CleftGeneDB-Search

Gene: TGFB3

Basic information

Tag	Content
Uniprot ID	P10600; Q8WV88;
Entrez ID	7043
Genbank protein ID	CAA33024.1; AAO13495.1; AAH18503.1; AAM96819.1; AAA61161.1; CAA32362.1; AAP35951.1; AAC79727.1;
Genbank nucleotide ID	NM_003239.4; NM_001329939.1; NM_001329938.1;
Ensembl protein ID	ENSP00000238682; ENSP00000451110;
Ensembl nucleotide ID	ENSG00000119699
Gene name	Transforming growth factor beta-3 proprotein
Gene symbol	TGFB3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	11396489; 18480962; 22143699; 20082468; 9683588; 14659070; 20170386; 16247549; 23023602;
Functional description	Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.
Sequence	MKMHLQRALV VLALLNFATV SLSLSTCTTL DFGHIKKKRV EAIRGQILSK LRLTSPPEPT 60 VMTHVPYQVL ALYNSTRELL EEMHGEREEG CTQENTESEY YAKEIHKFDM IQGLAEHNEL 120 AVCPKGITSK VFRFNVSSVE KNRTNLFRAE FRVLRVPNPS SKRNEQRIEL FQILRPDEHI 180 AKQRYIGGKN LPTRGTAEWL SFDVTDTVRE WLLRRESNLG LEISIHCPCH TFQPNGDILE 240 NIHEVMEIKF KGVDNEDDHG RGDLGRLKKQ KDHHNPHLIL MMIPPHRLDN PGQGGQRKKR 300 ALDTNYCFRN LEENCCVRPL YIDFRQDLGW KWVHEPKGYY ANFCSGPCPY LRSADTTHST 360 VLGLYNTLNP EASASPCCVP QDLEPLTILY YVGRTPKVEQ LSNMVVKSCK CS 412

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1KTZ
1TGJ
1TGK
2PJY
3EO1
4UM9
1TGJ
3EO1

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TGFB3	538957	A6QP91			Bos taurus	Prediction	More>>
1:1 ortholog	TGFB3	490796	F1PR85			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TGFB3	102189962	A0A452DMZ7			Capra hircus	Prediction	More>>
1:1 ortholog	TGFB3	7043	P10600	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Tgfb3		P17125	CPO	E11.5, E12.5, E14.0, E13.5, E14.5, E15.5	Mus musculus	Publication	More>>
1:1 ortholog	TGFB3	453054	H2Q8N5			Pan troglodytes	Prediction	More>>
1:1 ortholog	TGFB3	397400	K7GSJ9			Sus scrofa	Prediction	More>>
1:1 ortholog	Tgfb3	25717	Q07258			Rattus norvegicus	Prediction	More>>
1:1 ortholog	tgfb3	369195	Q66I23			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TGFB3	IVS5+104A>G	PCR-RFLP	23023602
TGFB3	rs3917201G>A	PCR-RFLP; TDT	20170386
TGFB3	rs2300607A>T; IVS1+5321	PCR-RFLP; TDT	18480962
TGFB3	IVS5+104A>G	Genotyping	14659070
TGFB3	g.-1083_-1086AGAGGG repeat (5'UTR.1)	Genotyping; sequencing; TDT	23660777
TGFB3	g.-24 int4/ex5 T>C (X5.1);	Genotyping; sequencing; TDT	23660777
TGFB3	rs2205181T>C	Genotyping	20572854
TGFB3	rs8011635C>T	Genotyping	20572854

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000538292	p.Met1Lys	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980892A>T	ClinVar
COSM958031	p.Lys2Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980888C>A	NCI-TCGA Cosmic
RCV000428373	p.His4Arg	missense variant	-	NC_000014.9:g.75980883T>C	ClinVar
rs997664741	p.His4Tyr	missense variant	-	NC_000014.9:g.75980884G>A	TOPMed
rs371772819	p.His4Arg	missense variant	-	NC_000014.9:g.75980883T>C	ESP,TOPMed,gnomAD
RCV000620302	p.His4Tyr	missense variant	-	NC_000014.9:g.75980884G>A	ClinVar
RCV000618428	p.His4Arg	missense variant	-	NC_000014.9:g.75980883T>C	ClinVar
rs367967889	p.Gln6Glu	missense variant	-	NC_000014.9:g.75980878G>C	ESP,ExAC,TOPMed,gnomAD
rs764219662	p.Ala13Ser	missense variant	-	NC_000014.9:g.75980857C>A	ExAC,gnomAD
rs775822611	p.Leu14Met	missense variant	-	NC_000014.9:g.75980854G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu14Pro	missense variant	-	NC_000014.9:g.75980853A>G	NCI-TCGA
rs759358916	p.Asn16Lys	missense variant	-	NC_000014.9:g.75980846G>C	ExAC,TOPMed,gnomAD
rs759358916	p.Asn16Lys	missense variant	-	NC_000014.9:g.75980846G>T	ExAC,TOPMed,gnomAD
rs776354980	p.Phe17Cys	missense variant	-	NC_000014.9:g.75980844A>C	ExAC,gnomAD
rs770761155	p.Thr19Met	missense variant	-	NC_000014.9:g.75980838G>A	ExAC,TOPMed,gnomAD
rs1384673775	p.Leu22Phe	missense variant	-	NC_000014.9:g.75980830G>A	gnomAD
rs746886966	p.Ser23Cys	missense variant	-	NC_000014.9:g.75980826G>C	ExAC,gnomAD
RCV000704957	p.Thr26Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980817G>C	ClinVar
RCV000428232	p.Thr26Ser	missense variant	-	NC_000014.9:g.75980817G>C	ClinVar
rs771543236	p.Thr26Ser	missense variant	-	NC_000014.9:g.75980817G>C	ExAC,TOPMed,gnomAD
rs564013964	p.Thr28Pro	missense variant	-	NC_000014.9:g.75980812T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000229793	p.Thr28Pro	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980812T>G	ClinVar
rs748977151	p.Phe32Leu	missense variant	-	NC_000014.9:g.75980798G>T	ExAC,TOPMed,gnomAD
rs1194816649	p.Phe32Ile	missense variant	-	NC_000014.9:g.75980800A>T	TOPMed
RCV000619146	p.Gly33Ser	missense variant	-	NC_000014.9:g.75980797C>T	ClinVar
rs781353815	p.Gly33Ser	missense variant	-	NC_000014.9:g.75980797C>T	ExAC,TOPMed,gnomAD
RCV000457494	p.Gly33Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980797C>T	ClinVar
rs199791687	p.His34Arg	missense variant	-	NC_000014.9:g.75980793T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1419846236	p.Ile35Val	missense variant	-	NC_000014.9:g.75980791T>C	TOPMed
RCV000579262	p.Lys36Ter	nonsense	-	NC_000014.9:g.75980788T>A	ClinVar
rs1555361451	p.Lys36Ter	stop gained	-	NC_000014.9:g.75980788T>A	-
COSM4826323	p.Lys38Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980780C>G	NCI-TCGA Cosmic
rs1262921400	p.Val40Leu	missense variant	-	NC_000014.9:g.75980776C>A	TOPMed,gnomAD
rs758527616	p.Glu41Lys	missense variant	-	NC_000014.9:g.75980773C>T	ExAC,gnomAD
rs1276359681	p.Ala42Gly	missense variant	-	NC_000014.9:g.75980769G>C	gnomAD
rs752881332	p.Ile43Val	missense variant	-	NC_000014.9:g.75980767T>C	ExAC,gnomAD
rs765490133	p.Ile43Thr	missense variant	-	NC_000014.9:g.75980766A>G	ExAC,gnomAD
rs776922148	p.Gln46Glu	missense variant	-	NC_000014.9:g.75980758G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile47Asn	missense variant	-	NC_000014.9:g.75980754A>T	NCI-TCGA
NCI-TCGA novel	p.Ile47Met	missense variant	-	NC_000014.9:g.75980753G>C	NCI-TCGA
rs1353571180	p.Ser49Cys	missense variant	-	NC_000014.9:g.75980749T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser49Arg	missense variant	-	NC_000014.9:g.75980747G>T	NCI-TCGA
rs1441479444	p.Arg52Gly	missense variant	-	NC_000014.9:g.75980740T>C	TOPMed
RCV000770648	p.Ser55Asn	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000014.9:g.75980730C>T	ClinVar
rs1362724996	p.Ser55Arg	missense variant	-	NC_000014.9:g.75980729G>T	TOPMed
rs143229915	p.Ser55Thr	missense variant	-	NC_000014.9:g.75980730C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143229915	p.Ser55Asn	missense variant	-	NC_000014.9:g.75980730C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000618120	p.Ser55Asn	missense variant	-	NC_000014.9:g.75980730C>T	ClinVar
rs747653529	p.Pro56Ser	missense variant	-	NC_000014.9:g.75980728G>A	ExAC,gnomAD
rs773670363	p.Pro56Leu	missense variant	-	NC_000014.9:g.75980727G>A	ExAC,gnomAD
rs1180676806	p.Glu58Gly	missense variant	-	NC_000014.9:g.75980721T>C	gnomAD
rs748843666	p.Pro59Ala	missense variant	-	NC_000014.9:g.75980719G>C	ExAC,gnomAD
rs4252315	p.Thr60Met	missense variant	-	NC_000014.9:g.75980715G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000234590	p.Thr60Met	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980715G>A	ClinVar
RCV000422788	p.Thr60Met	missense variant	-	NC_000014.9:g.75980715G>A	ClinVar
rs757664433	p.Thr63Asn	missense variant	-	NC_000014.9:g.75980706G>T	ExAC,TOPMed,gnomAD
rs1340393732	p.Thr63Ala	missense variant	-	NC_000014.9:g.75980707T>C	TOPMed
rs757664433	p.Thr63Ile	missense variant	-	NC_000014.9:g.75980706G>A	ExAC,TOPMed,gnomAD
rs201059075	p.Val65Ile	missense variant	-	NC_000014.9:g.75980701C>T	ExAC,TOPMed,gnomAD
RCV000474711	p.Val65Ile	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980701C>T	ClinVar
COSM958030	p.Pro66Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980698G>T	NCI-TCGA Cosmic
rs759038232	p.Tyr67Cys	missense variant	-	NC_000014.9:g.75980694T>C	ExAC,gnomAD
rs1214820284	p.Tyr67His	missense variant	-	NC_000014.9:g.75980695A>G	TOPMed
NCI-TCGA novel	p.Gln68Leu	missense variant	-	NC_000014.9:g.75980691T>A	NCI-TCGA
rs1279947435	p.Asn74Thr	missense variant	-	NC_000014.9:g.75980673T>G	gnomAD
rs1279947435	p.Asn74Ser	missense variant	-	NC_000014.9:g.75980673T>C	gnomAD
RCV000527997	p.Asn74Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980673T>C	ClinVar
rs778796326	p.Ser75Gly	missense variant	-	NC_000014.9:g.75980671T>C	ExAC,TOPMed,gnomAD
rs1036545575	p.Arg77Gln	missense variant	-	NC_000014.9:g.75980664C>T	TOPMed,gnomAD
rs150817760	p.Arg77Trp	missense variant	-	NC_000014.9:g.75980665G>A	ESP,ExAC,TOPMed,gnomAD
rs150817760	p.Arg77Gly	missense variant	-	NC_000014.9:g.75980665G>C	ESP,ExAC,TOPMed,gnomAD
rs371230847	p.Leu79Val	missense variant	-	NC_000014.9:g.75980659G>C	ESP,ExAC,TOPMed,gnomAD
rs766677704	p.Glu82Gly	missense variant	-	NC_000014.9:g.75980649T>C	ExAC,gnomAD
rs1361399074	p.Glu82Asp	missense variant	-	NC_000014.9:g.75980648C>G	gnomAD
rs1332691426	p.His84Leu	missense variant	-	NC_000014.9:g.75980643T>A	gnomAD
rs541426751	p.Gly85Arg	missense variant	-	NC_000014.9:g.75980641C>T	1000Genomes,ExAC,gnomAD
rs761683627	p.Glu86Asp	missense variant	-	NC_000014.9:g.75980636C>A	ExAC,gnomAD
rs1379970824	p.Arg87Lys	missense variant	-	NC_000014.9:g.75980634C>T	TOPMed,gnomAD
rs1379970824	p.Arg87Met	missense variant	-	NC_000014.9:g.75980634C>A	TOPMed,gnomAD
rs1158295068	p.Gly90Ser	missense variant	-	NC_000014.9:g.75980626C>T	TOPMed
rs1386422914	p.Cys91Tyr	missense variant	-	NC_000014.9:g.75980622C>T	TOPMed
rs768011820	p.Glu94Gly	missense variant	-	NC_000014.9:g.75980613T>C	ExAC,gnomAD
rs1383694236	p.Asn95Thr	missense variant	-	NC_000014.9:g.75980610T>G	TOPMed
COSM3690209	p.Asn95Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980610T>C	NCI-TCGA Cosmic
RCV000587920	p.Glu97Lys	missense variant	-	NC_000014.9:g.75980605C>T	ClinVar
rs1286432002	p.Glu97Asp	missense variant	-	NC_000014.9:g.75980603C>A	gnomAD
rs888198562	p.Glu97Val	missense variant	-	NC_000014.9:g.75980604T>A	TOPMed,gnomAD
rs769627183	p.Glu97Lys	missense variant	-	NC_000014.9:g.75980605C>T	ExAC,gnomAD
rs142047577	p.Ser98Trp	missense variant	-	NC_000014.9:g.75980601G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142047577	p.Ser98Leu	missense variant	-	NC_000014.9:g.75980601G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000461698	p.Ser98Leu	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980601G>A	ClinVar
RCV000852702	p.Ser98Leu	missense variant	Hypertrophic cardiomyopathy	NC_000014.9:g.75980601G>A	ClinVar
RCV000172592	p.Ser98Leu	missense variant	-	NC_000014.9:g.75980601G>A	ClinVar
RCV000243234	p.Ser98Leu	missense variant	-	NC_000014.9:g.75980601G>A	ClinVar
rs1284946081	p.Glu99Ala	missense variant	-	NC_000014.9:g.75980598T>G	gnomAD
rs1228534980	p.Tyr100His	missense variant	-	NC_000014.9:g.75980596A>G	gnomAD
rs1380630603	p.Tyr101Asn	missense variant	-	NC_000014.9:g.75980593A>T	TOPMed,gnomAD
rs1380630603	p.Tyr101Asp	missense variant	-	NC_000014.9:g.75980593A>C	TOPMed,gnomAD
rs1380630603	p.Tyr101His	missense variant	-	NC_000014.9:g.75980593A>G	TOPMed,gnomAD
RCV000705953	p.Tyr101His	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980593A>G	ClinVar
rs772575568	p.Ala102Val	missense variant	-	NC_000014.9:g.75980589G>A	ExAC,gnomAD
COSM5478766	p.Glu104Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75980584C>A	NCI-TCGA Cosmic
rs748551013	p.Ile105Thr	missense variant	-	NC_000014.9:g.75980580A>G	ExAC,gnomAD
rs1555361384	p.Phe108Ser	missense variant	-	NC_000014.9:g.75980571A>G	-
RCV000509830	p.Phe108Ter	frameshift	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75980575dup	ClinVar
RCV000621669	p.Phe108Ser	missense variant	-	NC_000014.9:g.75980571A>G	ClinVar
rs986180095	p.Asp109His	missense variant	-	NC_000014.9:g.75980569C>G	gnomAD
rs986180095	p.Asp109Asn	missense variant	-	NC_000014.9:g.75980569C>T	gnomAD
rs1418317779	p.Asp109Glu	missense variant	-	NC_000014.9:g.75980567G>T	TOPMed,gnomAD
rs1360294464	p.Met110Thr	missense variant	-	NC_000014.9:g.75980565A>G	gnomAD
RCV000617232	p.Gly113Glu	missense variant	-	NC_000014.9:g.75980556C>T	ClinVar
rs1555361380	p.Gly113Glu	missense variant	-	NC_000014.9:g.75980556C>T	-
rs1164387889	p.Gly113Arg	missense variant	-	NC_000014.9:g.75980557C>T	gnomAD
rs754010536	p.Ala115Glu	missense variant	-	NC_000014.9:g.75980550G>T	ExAC,gnomAD
rs754010536	p.Ala115Val	missense variant	-	NC_000014.9:g.75980550G>A	ExAC,gnomAD
rs138840538	p.Ala115Thr	missense variant	-	NC_000014.9:g.75980551C>T	ESP,ExAC,TOPMed
rs1411673111	p.Glu116Gly	missense variant	-	NC_000014.9:g.75980547T>C	gnomAD
rs1442229773	p.His117Tyr	missense variant	-	NC_000014.9:g.75980545G>A	TOPMed
rs145051522	p.Asn118Lys	missense variant	-	NC_000014.9:g.75971717G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs944621196	p.Ala121Pro	missense variant	-	NC_000014.9:g.75971710C>G	TOPMed,gnomAD
rs779277167	p.Val122Leu	missense variant	-	NC_000014.9:g.75971707C>G	ExAC,gnomAD
rs779277167	p.Val122Ile	missense variant	-	NC_000014.9:g.75971707C>T	ExAC,gnomAD
rs1345608097	p.Lys125Glu	missense variant	-	NC_000014.9:g.75971698T>C	TOPMed
rs1259454103	p.Ile127Thr	missense variant	-	NC_000014.9:g.75971691A>G	gnomAD
rs1297280833	p.Thr128Asn	missense variant	-	NC_000014.9:g.75971688G>T	gnomAD
rs769276402	p.Ser129Phe	missense variant	-	NC_000014.9:g.75971685G>A	ExAC
RCV000530954	p.Lys130Arg	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971682T>C	ClinVar
rs780051351	p.Lys130Arg	missense variant	-	NC_000014.9:g.75971682T>C	ExAC,TOPMed,gnomAD
rs1555360876	p.Phe132Ser	missense variant	-	NC_000014.9:g.75971676A>G	-
RCV000619584	p.Phe132Ser	missense variant	-	NC_000014.9:g.75971676A>G	ClinVar
rs761890018	p.Arg133His	missense variant	-	NC_000014.9:g.75971673C>T	gnomAD
rs1221353422	p.Arg133Gly	missense variant	-	NC_000014.9:g.75971674G>C	TOPMed,gnomAD
rs761890018	p.Arg133Pro	missense variant	-	NC_000014.9:g.75971673C>G	gnomAD
rs1221353422	p.Arg133Cys	missense variant	-	NC_000014.9:g.75971674G>A	TOPMed,gnomAD
rs1447808778	p.Val136Met	missense variant	-	NC_000014.9:g.75971665C>T	gnomAD
rs1329428163	p.Ser137Ala	missense variant	-	NC_000014.9:g.75971662A>C	gnomAD
rs1463969797	p.Ser137Phe	missense variant	-	NC_000014.9:g.75971661G>A	gnomAD
rs201453600	p.Ser138Ala	missense variant	-	NC_000014.9:g.75971659A>C	ExAC,TOPMed,gnomAD
RCV000279861	p.Ser138Ala	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000014.9:g.75971659A>C	ClinVar
RCV000226558	p.Ser138Ala	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971659A>C	ClinVar
NCI-TCGA novel	p.Ser138Leu	missense variant	-	NC_000014.9:g.75971658G>A	NCI-TCGA
RCV000618312	p.Ser138Ala	missense variant	-	NC_000014.9:g.75971659A>C	ClinVar
RCV000660313	p.Ser138Ala	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75971659A>C	ClinVar
RCV000489572	p.Ser138Ala	missense variant	-	NC_000014.9:g.75971659A>C	ClinVar
rs1422804503	p.Val139Ala	missense variant	-	NC_000014.9:g.75971655A>G	gnomAD
NCI-TCGA novel	p.Glu140Lys	missense variant	-	NC_000014.9:g.75971653C>T	NCI-TCGA
NCI-TCGA novel	p.Glu140Asp	missense variant	-	NC_000014.9:g.75971651C>G	NCI-TCGA
rs1421008373	p.Asn142Tyr	missense variant	-	NC_000014.9:g.75971647T>A	TOPMed
COSM1371188	p.Asn142IlePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75971646T>-	NCI-TCGA Cosmic
rs532403511	p.Arg143Lys	missense variant	-	NC_000014.9:g.75971643C>T	1000Genomes,ExAC,gnomAD
rs752691299	p.Phe147Cys	missense variant	-	NC_000014.9:g.75971631A>C	ExAC,TOPMed,gnomAD
rs560468476	p.Phe147Leu	missense variant	-	NC_000014.9:g.75971630G>C	1000Genomes,ExAC,gnomAD
RCV000817993	p.Arg148Ter	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971629G>A	ClinVar
rs776388495	p.Arg148Gln	missense variant	-	NC_000014.9:g.75971628C>T	ExAC,gnomAD
rs1057523647	p.Arg148Ter	stop gained	-	NC_000014.9:g.75971629G>A	-
NCI-TCGA novel	p.Glu150Ter	stop gained	-	NC_000014.9:g.75971623C>A	NCI-TCGA
rs1395042423	p.Phe151Cys	missense variant	-	NC_000014.9:g.75971619A>C	TOPMed
rs774715190	p.Arg152Gln	missense variant	-	NC_000014.9:g.75971616C>T	ExAC,gnomAD
rs546744152	p.Arg152Trp	missense variant	-	NC_000014.9:g.75971617G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000654902	p.Arg152Trp	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971617G>A	ClinVar
rs1461794105	p.Val153Ile	missense variant	-	NC_000014.9:g.75971614C>T	TOPMed
rs925224125	p.Arg155Gln	missense variant	-	NC_000014.9:g.75971607C>T	TOPMed,gnomAD
rs868258653	p.Arg155Trp	missense variant	-	NC_000014.9:g.75971608G>A	TOPMed
RCV000654903	p.Arg155Trp	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971608G>A	ClinVar
rs1379443147	p.Pro159Thr	missense variant	-	NC_000014.9:g.75971596G>T	gnomAD
rs983700048	p.Ser160Asn	missense variant	-	NC_000014.9:g.75971592C>T	TOPMed,gnomAD
rs1324592403	p.Ser160Gly	missense variant	-	NC_000014.9:g.75971593T>C	TOPMed
rs749754584	p.Lys162Glu	missense variant	-	NC_000014.9:g.75971587T>C	ExAC,gnomAD
rs142601521	p.Arg163Trp	missense variant	-	NC_000014.9:g.75971584G>A	ESP,ExAC,TOPMed,gnomAD
RCV000465880	p.Arg163Gln	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971583C>T	ClinVar
RCV000520464	p.Arg163Gln	missense variant	-	NC_000014.9:g.75971583C>T	ClinVar
RCV000654899	p.Arg163Trp	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971584G>A	ClinVar
RCV000412926	p.Arg163Trp	missense variant	-	NC_000014.9:g.75971584G>A	ClinVar
rs142601521	p.Arg163Gly	missense variant	-	NC_000014.9:g.75971584G>C	ESP,ExAC,TOPMed,gnomAD
rs920721092	p.Arg163Gln	missense variant	-	NC_000014.9:g.75971583C>T	TOPMed,gnomAD
RCV000172112	p.Arg163Trp	missense variant	-	NC_000014.9:g.75971584G>A	ClinVar
rs148029842	p.Ile168Met	missense variant	-	NC_000014.9:g.75971567G>C	ESP,ExAC,TOPMed,gnomAD
RCV000786406	p.Ile168Met	missense variant	-	NC_000014.9:g.75971567G>C	ClinVar
rs1191369907	p.Ile168Leu	missense variant	-	NC_000014.9:g.75971569T>G	gnomAD
RCV000621268	p.Ile168Met	missense variant	-	NC_000014.9:g.75971567G>C	ClinVar
RCV000654895	p.Ile168Met	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971567G>C	ClinVar
rs1555360808	p.Glu169Lys	missense variant	-	NC_000014.9:g.75971566C>T	-
rs1172825066	p.Glu169Gly	missense variant	-	NC_000014.9:g.75971565T>C	gnomAD
RCV000654900	p.Glu169Lys	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971566C>T	ClinVar
RCV000617523	p.Glu169Lys	missense variant	-	NC_000014.9:g.75971566C>T	ClinVar
rs1381847560	p.Leu170Val	missense variant	-	NC_000014.9:g.75971563G>C	gnomAD
rs869025534	p.Leu174His	missense variant	-	NC_000014.9:g.75971251A>T	TOPMed,gnomAD
RCV000232112	p.Leu174His	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971251A>T	ClinVar
RCV000208388	p.Leu174His	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000014.9:g.75971251A>T	ClinVar
rs1319852054	p.Arg175Gln	missense variant	-	NC_000014.9:g.75971248C>T	gnomAD
rs958240577	p.Arg175Trp	missense variant	-	NC_000014.9:g.75971249G>A	TOPMed
rs779569139	p.Pro176Leu	missense variant	-	NC_000014.9:g.75971245G>A	ExAC,TOPMed,gnomAD
rs755611135	p.Asp177Asn	missense variant	-	NC_000014.9:g.75971243C>T	ExAC,gnomAD
rs1296141902	p.Asp177Glu	missense variant	-	NC_000014.9:g.75971241A>T	gnomAD
rs996991722	p.Arg184His	missense variant	-	NC_000014.9:g.75971221C>T	TOPMed
rs767125999	p.Arg184Cys	missense variant	-	NC_000014.9:g.75971222G>A	ExAC,gnomAD
rs1398807973	p.Tyr185Cys	missense variant	-	NC_000014.9:g.75971218T>C	gnomAD
rs763289805	p.Ile186Ser	missense variant	-	NC_000014.9:g.75971215A>C	ExAC,TOPMed,gnomAD
RCV000788807	p.Ile186Ser	missense variant	-	NC_000014.9:g.75971215A>C	ClinVar
RCV000456396	p.Ile186Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971215A>C	ClinVar
rs201063101	p.Gly187Ser	missense variant	-	NC_000014.9:g.75971213C>T	ExAC,TOPMed,gnomAD
RCV000172111	p.Gly187Ser	missense variant	-	NC_000014.9:g.75971213C>T	ClinVar
rs201063101	p.Gly187Arg	missense variant	-	NC_000014.9:g.75971213C>G	ExAC,TOPMed,gnomAD
RCV000654898	p.Gly187Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971213C>T	ClinVar
rs1171935854	p.Gly188Ala	missense variant	-	NC_000014.9:g.75971209C>G	gnomAD
COSM958023	p.Thr193Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971194G>A	NCI-TCGA Cosmic
rs760707107	p.Arg194Gln	missense variant	-	NC_000014.9:g.75971191C>T	ExAC,gnomAD
rs760707107	p.Arg194Pro	missense variant	-	NC_000014.9:g.75971191C>G	ExAC,gnomAD
RCV000466645	p.Arg194Trp	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971192G>A	ClinVar
rs368004396	p.Arg194Trp	missense variant	-	NC_000014.9:g.75971192G>A	ESP,ExAC,TOPMed,gnomAD
rs760707107	p.Arg194Leu	missense variant	-	NC_000014.9:g.75971191C>A	ExAC,gnomAD
RCV000621515	p.Arg194Pro	missense variant	-	NC_000014.9:g.75971191C>G	ClinVar
rs773458344	p.Gly195Val	missense variant	-	NC_000014.9:g.75971188C>A	ExAC,gnomAD
rs772252884	p.Ala197Val	missense variant	-	NC_000014.9:g.75971182G>A	ExAC,gnomAD
rs778797205	p.Glu198Lys	missense variant	-	NC_000014.9:g.75971180C>T	ExAC,TOPMed,gnomAD
COSM1640158	p.Trp199Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75971175C>T	NCI-TCGA Cosmic
COSM958022	p.Leu200Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971174G>T	NCI-TCGA Cosmic
rs768598579	p.Ser201Ala	missense variant	-	NC_000014.9:g.75971171A>C	ExAC,gnomAD
rs1474433492	p.Phe202Val	missense variant	-	NC_000014.9:g.75971168A>C	TOPMed,gnomAD
RCV000654897	p.Phe202Val	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971168A>C	ClinVar
rs1226495999	p.Asp203Asn	missense variant	-	NC_000014.9:g.75971165C>T	gnomAD
rs1331320163	p.Asp203Glu	missense variant	-	NC_000014.9:g.75971163A>C	gnomAD
rs1555360774	p.Val204Ala	missense variant	-	NC_000014.9:g.75971161A>G	-
RCV000529740	p.Val204Ala	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971161A>G	ClinVar
COSM433390	p.Val204Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971162C>T	NCI-TCGA Cosmic
COSM4052525	p.Val204Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971161A>T	NCI-TCGA Cosmic
COSM4937988	p.Asp206His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971156C>G	NCI-TCGA Cosmic
rs1384728669	p.Thr207Ile	missense variant	-	NC_000014.9:g.75971152G>A	gnomAD
rs779897294	p.Arg209Leu	missense variant	-	NC_000014.9:g.75971146C>A	ExAC,TOPMed,gnomAD
rs779897294	p.Arg209His	missense variant	-	NC_000014.9:g.75971146C>T	ExAC,TOPMed,gnomAD
rs1331488615	p.Arg209Cys	missense variant	-	NC_000014.9:g.75971147G>A	gnomAD
RCV000619148	p.Arg209His	missense variant	-	NC_000014.9:g.75971146C>T	ClinVar
rs1333389859	p.Leu213Ser	missense variant	-	NC_000014.9:g.75971134A>G	TOPMed
rs775486607	p.Glu216Gly	missense variant	-	NC_000014.9:g.75965695T>C	ExAC,gnomAD
rs1234848884	p.Ser217Tyr	missense variant	-	NC_000014.9:g.75965692G>T	TOPMed,gnomAD
rs1234848884	p.Ser217Cys	missense variant	-	NC_000014.9:g.75965692G>C	TOPMed,gnomAD
rs1442967001	p.Leu219Phe	missense variant	-	NC_000014.9:g.75965685T>G	gnomAD
rs1280447804	p.Cys227Tyr	missense variant	-	NC_000014.9:g.75965662C>T	gnomAD
rs1349938834	p.Gln233Leu	missense variant	-	NC_000014.9:g.75965644T>A	TOPMed
RCV000244609	p.Gln233Leu	missense variant	-	NC_000014.9:g.75965644T>A	ClinVar
RCV000185631	p.Asn235Ter	frameshift	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75965639del	ClinVar
NCI-TCGA novel	p.Gly236Arg	missense variant	-	NC_000014.9:g.75965636C>T	NCI-TCGA
rs1249703177	p.Ile238Val	missense variant	-	NC_000014.9:g.75965630T>C	TOPMed
rs1045402283	p.His243Asn	missense variant	-	NC_000014.9:g.75965615G>T	TOPMed
rs1085307755	p.Glu244Lys	missense variant	-	NC_000014.9:g.75965612C>T	-
RCV000490126	p.Glu244Lys	missense variant	-	NC_000014.9:g.75965612C>T	ClinVar
RCV000620015	p.Glu244Lys	missense variant	-	NC_000014.9:g.75965612C>T	ClinVar
rs755309898	p.Lys251Arg	missense variant	-	NC_000014.9:g.75965590T>C	ExAC,gnomAD
RCV000420017	p.Gly252Ser	missense variant	-	NC_000014.9:g.75965588C>T	ClinVar
rs1057524806	p.Gly252Ser	missense variant	-	NC_000014.9:g.75965588C>T	-
rs532517095	p.Val253Met	missense variant	-	NC_000014.9:g.75963485C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764272549	p.Asp254Tyr	missense variant	-	NC_000014.9:g.75963482C>A	ExAC,gnomAD
rs763026327	p.Asp254Glu	missense variant	-	NC_000014.9:g.75963480G>T	ExAC,TOPMed,gnomAD
rs752984800	p.Glu256Lys	missense variant	-	NC_000014.9:g.75963476C>T	ExAC,gnomAD
rs764900652	p.Asp257Ala	missense variant	-	NC_000014.9:g.75963472T>G	ExAC,gnomAD
COSM4893151	p.Asp257Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75963473C>T	NCI-TCGA Cosmic
rs1221859306	p.Gly260Ser	missense variant	-	NC_000014.9:g.75963464C>T	TOPMed,gnomAD
rs1221859306	p.Gly260Arg	missense variant	-	NC_000014.9:g.75963464C>G	TOPMed,gnomAD
rs547264290	p.Arg261Pro	missense variant	-	NC_000014.9:g.75963460C>G	1000Genomes,ExAC,gnomAD
rs547264290	p.Arg261His	missense variant	-	NC_000014.9:g.75963460C>T	1000Genomes,ExAC,gnomAD
RCV000619884	p.Arg261Pro	missense variant	-	NC_000014.9:g.75963460C>G	ClinVar
rs560321456	p.Arg261Cys	missense variant	-	NC_000014.9:g.75963461G>A	1000Genomes
RCV000414511	p.Arg261Cys	missense variant	-	NC_000014.9:g.75963461G>A	ClinVar
rs796051886	p.Asp263His	missense variant	-	NC_000014.9:g.75963455C>G	-
RCV000498355	p.Asp263His	missense variant	Hypertrophic cardiomyopathy	NC_000014.9:g.75963455C>G	ClinVar
rs770911263	p.Arg266Cys	missense variant	-	NC_000014.9:g.75963446G>A	ExAC,TOPMed,gnomAD
rs142069844	p.Arg266His	missense variant	-	NC_000014.9:g.75963445C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142069844	p.Arg266Leu	missense variant	-	NC_000014.9:g.75963445C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000622245	p.Arg266His	missense variant	-	NC_000014.9:g.75963445C>T	ClinVar
RCV000470741	p.Arg266His	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963445C>T	ClinVar
RCV000537920	p.Arg266Leu	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963445C>A	ClinVar
RCV000424450	p.Arg266His	missense variant	-	NC_000014.9:g.75963445C>T	ClinVar
COSM958020	p.Lys268Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75963438C>A	NCI-TCGA Cosmic
RCV000543725	p.Lys269Arg	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963436T>C	ClinVar
rs771638085	p.Lys269Arg	missense variant	-	NC_000014.9:g.75963436T>C	ExAC,TOPMed,gnomAD
rs561423382	p.Gln270Arg	missense variant	-	NC_000014.9:g.75963433T>C	1000Genomes
rs147601018	p.Lys271Asn	missense variant	-	NC_000014.9:g.75963429C>G	ESP,ExAC,TOPMed,gnomAD
RCV000558791	p.Lys271Asn	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963429C>G	ClinVar
rs778672048	p.Asp272Glu	missense variant	-	NC_000014.9:g.75963426A>T	ExAC,TOPMed,gnomAD
RCV000425131	p.Pro276Ser	missense variant	-	NC_000014.9:g.75963416G>A	ClinVar
NCI-TCGA novel	p.Pro276Leu	missense variant	-	NC_000014.9:g.75963415G>A	NCI-TCGA
rs1057522944	p.Pro276Ser	missense variant	-	NC_000014.9:g.75963416G>A	-
rs1382239332	p.His277Arg	missense variant	-	NC_000014.9:g.75963412T>C	TOPMed
rs1325349711	p.Met281Thr	missense variant	-	NC_000014.9:g.75963400A>G	gnomAD
rs781763854	p.Met282Thr	missense variant	-	NC_000014.9:g.75963397A>G	ExAC,gnomAD
rs963158813	p.Ile283Thr	missense variant	-	NC_000014.9:g.75963394A>G	gnomAD
rs1018415204	p.Pro284Ser	missense variant	-	NC_000014.9:g.75963392G>A	TOPMed,gnomAD
rs1288935716	p.Pro285Arg	missense variant	-	NC_000014.9:g.75963388G>C	TOPMed,gnomAD
rs200626284	p.His286Gln	missense variant	-	NC_000014.9:g.75963384G>C	1000Genomes
rs1293737156	p.His286Tyr	missense variant	-	NC_000014.9:g.75963386G>A	TOPMed
NCI-TCGA novel	p.His286ThrPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.75963387_75963388insG	NCI-TCGA
RCV000756774	p.Arg287Trp	missense variant	-	NC_000014.9:g.75963383G>A	ClinVar
rs757774610	p.Arg287Trp	missense variant	-	NC_000014.9:g.75963383G>A	ExAC,TOPMed,gnomAD
RCV000824473	p.Arg287Trp	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963383G>A	ClinVar
rs1191368075	p.Arg287Gln	missense variant	-	NC_000014.9:g.75963382C>T	TOPMed,gnomAD
rs1259117546	p.Leu288Pro	missense variant	-	NC_000014.9:g.75963379A>G	TOPMed
rs777949995	p.Asp289Asn	missense variant	-	NC_000014.9:g.75963377C>T	ExAC,TOPMed,gnomAD
rs145121701	p.Pro291Leu	missense variant	-	NC_000014.9:g.75963370G>A	ESP,ExAC,TOPMed,gnomAD
RCV000473364	p.Pro291Leu	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963370G>A	ClinVar
RCV000482159	p.Pro291Leu	missense variant	-	NC_000014.9:g.75963370G>A	ClinVar
rs759234781	p.Gln293Pro	missense variant	-	NC_000014.9:g.75963364T>G	ExAC,gnomAD
rs1419064846	p.Gly294Val	missense variant	-	NC_000014.9:g.75963361C>A	TOPMed
rs753696538	p.Gly294Trp	missense variant	-	NC_000014.9:g.75963362C>A	ExAC,gnomAD
rs760559695	p.Gly295Val	missense variant	-	NC_000014.9:g.75963358C>A	ExAC,TOPMed,gnomAD
RCV000462294	p.Gly295Ter	frameshift	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963362_75963363del	ClinVar
rs766164843	p.Gly295Arg	missense variant	-	NC_000014.9:g.75963359C>G	ExAC,gnomAD
COSM4733362	p.Gly295ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75963358C>-	NCI-TCGA Cosmic
rs773168068	p.Arg297Ser	missense variant	-	NC_000014.9:g.75963351C>A	ExAC
RCV000654901	p.Arg297Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963351C>A	ClinVar
RCV000617261	p.Lys298Ter	frameshift	-	NC_000014.9:g.75963349_75963356dup	ClinVar
RCV000521380	p.Lys298Ter	frameshift	-	NC_000014.9:g.75963349_75963356dup	ClinVar
rs587777617	p.Arg300Gln	missense variant	-	NC_000014.9:g.75963343C>T	-
RCV000332014	p.Arg300Trp	missense variant	-	NC_000014.9:g.75963344G>A	ClinVar
RCV000133467	p.Arg300Gln	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75963343C>T	ClinVar
rs796051885	p.Arg300Trp	missense variant	-	NC_000014.9:g.75963344G>A	-
rs768423844	p.Asp303Ala	missense variant	-	NC_000014.9:g.75963334T>G	ExAC,TOPMed,gnomAD
rs369281541	p.Asn305Ser	missense variant	-	NC_000014.9:g.75963328T>C	ESP,ExAC,TOPMed,gnomAD
rs369281541	p.Asn305Thr	missense variant	-	NC_000014.9:g.75963328T>G	ESP,ExAC,TOPMed,gnomAD
RCV000654896	p.Tyr306Ter	frameshift	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963327del	ClinVar
rs1299759608	p.Tyr306His	missense variant	-	NC_000014.9:g.75963326A>G	gnomAD
NCI-TCGA novel	p.Tyr306Cys	missense variant	-	NC_000014.9:g.75963325T>C	NCI-TCGA
RCV000622564	p.Tyr306His	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000014.9:g.75963326A>G	ClinVar
RCV000431104	p.Arg309His	missense variant	-	NC_000014.9:g.75963316C>T	ClinVar
rs1353668442	p.Arg309Cys	missense variant	-	NC_000014.9:g.75963317G>A	gnomAD
rs1057524768	p.Arg309His	missense variant	-	NC_000014.9:g.75963316C>T	TOPMed
rs1194831540	p.Asn310Thr	missense variant	-	NC_000014.9:g.75961074T>G	TOPMed
rs761225134	p.Arg318His	missense variant	-	NC_000014.9:g.75961050C>T	ExAC,TOPMed,gnomAD
COSM4052521	p.Arg318Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75961051G>A	NCI-TCGA Cosmic
rs773846624	p.Pro319Ser	missense variant	-	NC_000014.9:g.75961048G>A	ExAC,gnomAD
RCV000763946	p.Ile322Thr	missense variant	Arrhythmogenic right ventricular dysplasia, familial 1 (ARVD1)	NC_000014.9:g.75961038A>G	ClinVar
RCV000464759	p.Ile322Thr	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75961038A>G	ClinVar
rs1555360234	p.Ile322Val	missense variant	-	NC_000014.9:g.75961039T>C	-
rs762643638	p.Ile322Thr	missense variant	-	NC_000014.9:g.75961038A>G	ExAC,gnomAD
RCV000619960	p.Ile322Val	missense variant	-	NC_000014.9:g.75961039T>C	ClinVar
RCV000761886	p.Arg325Gln	missense variant	-	NC_000014.9:g.75961029C>T	ClinVar
RCV000414018	p.Arg325Gln	missense variant	-	NC_000014.9:g.75961029C>T	ClinVar
rs771391164	p.Arg325Gln	missense variant	-	NC_000014.9:g.75961029C>T	ExAC,TOPMed,gnomAD
rs771391164	p.Arg325Leu	missense variant	-	NC_000014.9:g.75961029C>A	ExAC,TOPMed,gnomAD
rs1555360229	p.Arg325Ter	stop gained	-	NC_000014.9:g.75961030G>A	-
RCV000620738	p.Arg325Ter	nonsense	-	NC_000014.9:g.75961030G>A	ClinVar
rs747427366	p.Asp327Tyr	missense variant	-	NC_000014.9:g.75961024C>A	ExAC,gnomAD
COSM1300839	p.Asp327His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75961024C>G	NCI-TCGA Cosmic
rs772698647	p.Gly329Asp	missense variant	-	NC_000014.9:g.75961017C>T	ExAC,gnomAD
RCV000528556	p.Trp330Ter	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75961014C>T	ClinVar
rs1555360222	p.Trp330Ter	stop gained	-	NC_000014.9:g.75961014C>T	-
NCI-TCGA novel	p.Trp330Cys	missense variant	-	NC_000014.9:g.75961013C>A	NCI-TCGA
rs1555360218	p.Trp332Leu	missense variant	-	NC_000014.9:g.75961008C>A	-
RCV000618623	p.Trp332Leu	missense variant	-	NC_000014.9:g.75961008C>A	ClinVar
rs1021920873	p.His334Arg	missense variant	-	NC_000014.9:g.75961002T>C	TOPMed
NCI-TCGA novel	p.Tyr339Ter	stop gained	-	NC_000014.9:g.75960986G>C	NCI-TCGA
rs778990969	p.Tyr340Ter	stop gained	-	NC_000014.9:g.75960983A>T	ExAC,gnomAD
RCV000497766	p.Tyr340Ter	nonsense	-	NC_000014.9:g.75960983A>T	ClinVar
RCV000472175	p.Ser345Ter	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75960969G>C	ClinVar
rs1060502827	p.Ser345Leu	missense variant	-	NC_000014.9:g.75960969G>A	gnomAD
rs1060502827	p.Ser345Ter	stop gained	-	NC_000014.9:g.75960969G>C	gnomAD
rs755084678	p.Pro347Arg	missense variant	-	NC_000014.9:g.75960963G>C	ExAC,gnomAD
rs1312092802	p.Pro349Ser	missense variant	-	NC_000014.9:g.75960958G>A	gnomAD
rs1400200743	p.Tyr350Asn	missense variant	-	NC_000014.9:g.75960955A>T	gnomAD
rs749485028	p.Arg352Cys	missense variant	-	NC_000014.9:g.75960949G>A	ExAC,TOPMed,gnomAD
RCV000618833	p.Arg352His	missense variant	-	NC_000014.9:g.75960948C>T	ClinVar
RCV000654904	p.Arg352Cys	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75960949G>A	ClinVar
rs755894337	p.Arg352His	missense variant	-	NC_000014.9:g.75960948C>T	ExAC,gnomAD
rs755894337	p.Arg352Leu	missense variant	-	NC_000014.9:g.75960948C>A	ExAC,gnomAD
rs1167674615	p.Thr356Ala	missense variant	-	NC_000014.9:g.75960937T>C	gnomAD
rs1474531974	p.Ser359Thr	missense variant	-	NC_000014.9:g.75960927C>G	TOPMed,gnomAD
rs750299821	p.Thr360Met	missense variant	-	NC_000014.9:g.75960924G>A	ExAC,gnomAD
RCV000432914	p.Thr360Met	missense variant	-	NC_000014.9:g.75960924G>A	ClinVar
NCI-TCGA novel	p.Gly363Glu	missense variant	-	NC_000014.9:g.75959338C>T	NCI-TCGA
rs748650364	p.Leu364Met	missense variant	-	NC_000014.9:g.75959336G>T	ExAC,gnomAD
RCV000617331	p.Leu368Ter	frameshift	-	NC_000014.9:g.75959321_75959324del	ClinVar
rs1555360046	p.Pro370Ala	missense variant	-	NC_000014.9:g.75959318G>C	-
RCV000617733	p.Pro370Ala	missense variant	-	NC_000014.9:g.75959318G>C	ClinVar
rs768701364	p.Ser373Phe	missense variant	-	NC_000014.9:g.75959308G>A	ExAC,gnomAD
rs780254258	p.Ser375Trp	missense variant	-	NC_000014.9:g.75959302G>C	ExAC,gnomAD
rs780254258	p.Ser375Leu	missense variant	-	NC_000014.9:g.75959302G>A	ExAC,gnomAD
rs1446755738	p.Pro376Leu	missense variant	-	NC_000014.9:g.75959299G>A	TOPMed
rs1060502828	p.Cys377Tyr	missense variant	-	NC_000014.9:g.75959296C>T	-
RCV000460341	p.Cys377Tyr	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959296C>T	ClinVar
rs1271001524	p.Cys378Gly	missense variant	-	NC_000014.9:g.75959294A>C	gnomAD
rs757031677	p.Val379Met	missense variant	-	NC_000014.9:g.75959291C>T	ExAC,TOPMed,gnomAD
rs1555360033	p.Pro380Ser	missense variant	-	NC_000014.9:g.75959288G>A	-
RCV000620927	p.Pro380Ser	missense variant	-	NC_000014.9:g.75959288G>A	ClinVar
rs893375581	p.Gln381His	missense variant	-	NC_000014.9:g.75959283C>A	TOPMed
RCV000498453	p.Gln381His	missense variant	-	NC_000014.9:g.75959283C>A	ClinVar
RCV000550507	p.Glu384Gly	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959275T>C	ClinVar
rs777902992	p.Glu384Gly	missense variant	-	NC_000014.9:g.75959275T>C	ExAC,gnomAD
rs1304975316	p.Glu384Lys	missense variant	-	NC_000014.9:g.75959276C>T	gnomAD
rs533250628	p.Thr387Ala	missense variant	-	NC_000014.9:g.75959267T>C	1000Genomes,ExAC,gnomAD
rs996297395	p.Tyr390Phe	missense variant	-	NC_000014.9:g.75959257T>A	TOPMed,gnomAD
RCV000520235	p.Tyr390Phe	missense variant	-	NC_000014.9:g.75959257T>A	ClinVar
rs759168311	p.Val392Ala	missense variant	-	NC_000014.9:g.75959251A>G	ExAC,gnomAD
RCV000702478	p.Thr395Pro	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959243T>G	ClinVar
rs1284626226	p.Thr395Asn	missense variant	-	NC_000014.9:g.75959242G>T	TOPMed
RCV000539505	p.Pro396Ser	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959240G>A	ClinVar
rs899613458	p.Pro396Ser	missense variant	-	NC_000014.9:g.75959240G>A	TOPMed
RCV000522931	p.Glu399Ter	nonsense	-	NC_000014.9:g.75959231C>A	ClinVar
rs1555360027	p.Glu399Ter	stop gained	-	NC_000014.9:g.75959231C>A	-
rs774909501	p.Val405Ala	missense variant	-	NC_000014.9:g.75959212A>G	ExAC,gnomAD
rs1248127840	p.Lys407Glu	missense variant	-	NC_000014.9:g.75959207T>C	gnomAD
rs398122984	p.Cys409Tyr	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75959200C>T	UniProt,dbSNP
VAR_070924	p.Cys409Tyr	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75959200C>T	UniProt
rs398122984	p.Cys409Tyr	missense variant	-	NC_000014.9:g.75959200C>T	-
RCV000077765	p.Cys409Tyr	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75959200C>T	ClinVar
rs1177558814	p.Ter413Arg	stop lost	-	NC_000014.9:g.75959189A>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0003130	Anoxia	phenotype	LHGDN
C0003504	Aortic Valve Insufficiency	disease	HPO
C0003706	Arachnodactyly	disease	HPO
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0004364	Autoimmune Diseases	group	BEFREE
C0005890	Body Height	phenotype	GWASDB
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007570	Celiac Disease	disease	LHGDN
C0008031	Chest Pain	phenotype	HPO
C0008476	Chondromatosis, Synovial	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE;LHGDN
C0008924	Cleft upper lip	disease	BEFREE;LHGDN
C0008925	Cleft Palate	disease	BEFREE;CTD_human;LHGDN
C0009324	Ulcerative Colitis	disease	BEFREE
C0010346	Crohn Disease	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE
C0011882	Diabetic Neuropathies	group	RGD
C0013238	Dry Eye Syndromes	group	BEFREE
C0013405	Dyspnea, Paroxysmal	disease	HPO
C0013537	Eclampsia	disease	BEFREE
C0013720	Ehlers-Danlos Syndrome	disease	GENOMICS_ENGLAND
C0014070	Encephalomyelitis	disease	BEFREE
C0015300	Exophthalmos	disease	HPO
C0015310	Exotropia	disease	HPO
C0016059	Fibrosis	phenotype	LHGDN
C0016202	Flatfoot	phenotype	HPO
C0017636	Glioblastoma	disease	BEFREE
C0018800	Cardiomegaly	phenotype	HPO
C0019294	Hernia, Inguinal	phenotype	HPO
C0020456	Hyperglycemia	disease	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0020538	Hypertensive disease	group	BEFREE;HPO
C0021364	Male infertility	disease	BEFREE
C0022548	Keloid	phenotype	BEFREE
C0023212	Left-Sided Heart Failure	disease	HPO
C0023267	Fibroid Tumor	group	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0024032	Low Birth Weights	phenotype	HPO
C0024121	Lung Neoplasms	group	LHGDN
C0024796	Marfan Syndrome	disease	CLINGEN
C0025202	melanoma	disease	BEFREE
C0026265	Diseases of mitral valve	group	BEFREE
C0026266	Mitral Valve Insufficiency	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0029427	Synovial osteochondromatosis	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032019	Pituitary Neoplasms	group	BEFREE
C0032927	Precancerous Conditions	group	BEFREE
C0033375	Prolactinoma	disease	BEFREE
C0034069	Pulmonary Fibrosis	disease	BEFREE
C0035238	Congenital abnormality of respiratory system	group	CTD_human
C0036202	Sarcoidosis	disease	BEFREE
C0040136	Thyroid Neoplasm	disease	LHGDN
C0042133	Uterine Fibroids	group	BEFREE
C0042514	Tachycardia, Ventricular	disease	BEFREE
C0078911	AIDS-Associated Nephropathy	disease	BEFREE
C0085119	Foot Ulcer	disease	LHGDN
C0085298	Sudden Cardiac Death	phenotype	HPO
C0085612	Ventricular arrhythmia	disease	HPO
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152451	Chronic glomerulonephritis	disease	BEFREE
C0153687	Secondary malignant neoplasm of skin	disease	BEFREE
C0156181	Peritoneal adhesion	phenotype	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0158731	Congenital pectus carinatum	disease	HPO
C0162534	Prion Diseases	group	BEFREE
C0162739	HELLP Syndrome	disease	LHGDN
C0162810	Cicatrix, Hypertrophic	phenotype	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE
C0162872	Aortic Aneurysm, Thoracic	disease	GENOMICS_ENGLAND
C0178874	Tumor Progression	phenotype	BEFREE
C0202236	Triglycerides measurement	phenotype	GWASDB
C0206172	Diabetic Foot	disease	LHGDN
C0206698	Cholangiocarcinoma	disease	BEFREE
C0231807	Dyspnea on exertion	phenotype	HPO
C0232197	Fibrillation	disease	BEFREE
C0235991	Small for gestational age (disorder)	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0241240	Tall stature	phenotype	HPO
C0263401	Cutis marmorata	disease	HPO
C0264133	Acquired flat foot	phenotype	HPO
C0265706	Gastroschisis	disease	BEFREE
C0266122	Cleft uvula	disease	HPO
C0314719	Dryness of eye	phenotype	BEFREE
C0340164	Lofgrens syndrome	disease	BEFREE
C0345050	Congenital aneurysm of ascending aorta	disease	GENOMICS_ENGLAND
C0349588	Short stature	phenotype	HPO
C0349788	Arrhythmogenic Right Ventricular Dysplasia	disease	BEFREE;GENOMICS_ENGLAND
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0392775	Cystic medial necrosis of aorta	disease	HPO
C0431122	Atypical meningioma	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0497247	Increase in blood pressure	phenotype	HPO
C0542514	Blue sclera	phenotype	HPO
C0553982	Impaired left ventricular function	phenotype	HPO
C0574143	Liver calculus	disease	BEFREE
C0575158	Kyphoscoliosis deformity of spine	phenotype	HPO
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0700078	Decreased tendon reflex	phenotype	HPO
C0877430	Asthma chronic	disease	BEFREE
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1337014	Grade I Chondrosarcoma	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1458155	Mammary Neoplasms	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1812607	Aortic aneurysm and dissection	disease	BEFREE
C1832931	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	disease	BEFREE
C1836635	Loeys-Dietz Aortic Aneurysm Syndrome	disease	CTD_human
C1836653	Ascending aortic dissection	phenotype	HPO
C1837108	Decreased muscle mass	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE;CTD_human
C1837760	Prominent eyes	phenotype	HPO
C1844820	Range of joint movement increased	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1855794	Bamforth syndrome	disease	BEFREE
C1862425	Prominent globes	phenotype	HPO
C1862511	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)	disease	CTD_human
C1956346	Coronary Artery Disease	disease	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2063326	Right ventricular cardiomyopathy	disease	HPO
C2697932	Loeys-Dietz Syndrome	disease	CTD_human
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3489393	Hiatal Hernia	disease	HPO
C3494422	Retrognathia	phenotype	HPO
C3551535	Mitral regurgitation, mild	phenotype	HPO
C3553762	LOEYS-DIETZ SYNDROME 4	disease	CLINVAR
C3711374	Nonsyndromic Deafness	disease	CTD_human
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3810012	RIENHOFF SYNDROME	disease	BEFREE;CLINVAR;UNIPROT
C3810018	Bilateral coxa valga	phenotype	HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3887486	Interstitial lung fibrosis	phenotype	BEFREE
C4022729	Increased arm span	phenotype	HPO
C4022878	Descending aortic dissection	disease	HPO
C4025845	Abnormality of the iris	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005114	type II transforming growth factor beta receptor binding	IDA
GO:0005114	type II transforming growth factor beta receptor binding	IPI
GO:0005114	type II transforming growth factor beta receptor binding	IBA
GO:0005114	type II transforming growth factor beta receptor binding	IMP
GO:0005125	cytokine activity	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0034713	type I transforming growth factor beta receptor binding	IDA
GO:0034714	type III transforming growth factor beta receptor binding	IBA
GO:0034714	type III transforming growth factor beta receptor binding	IMP
GO:0042802	identical protein binding	IDA
GO:0042802	identical protein binding	IPI
GO:0044877	protein-containing complex binding	IEA
GO:0050431	transforming growth factor beta binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000187	activation of MAPK activity	IEA
GO:0001666	response to hypoxia	IDA
GO:0001701	in utero embryonic development	ISS
GO:0002576	platelet degranulation	TAS
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA
GO:0007435	salivary gland morphogenesis	IEP
GO:0007565	female pregnancy	IEA
GO:0007568	aging	IEA
GO:0008284	positive regulation of cell population proliferation	IMP
GO:0008285	negative regulation of cell population proliferation	ISS
GO:0008285	negative regulation of cell population proliferation	IMP
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0010936	negative regulation of macrophage cytokine production	IDA
GO:0030501	positive regulation of bone mineralization	IEP
GO:0030509	BMP signaling pathway	IBA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030879	mammary gland development	ISS
GO:0032570	response to progesterone	IDA
GO:0032967	positive regulation of collagen biosynthetic process	IMP
GO:0034616	response to laminar fluid shear stress	IEA
GO:0042060	wound healing	IEA
GO:0042127	regulation of cell population proliferation	IBA
GO:0042476	odontogenesis	NAS
GO:0042704	uterine wall breakdown	TAS
GO:0043065	positive regulation of apoptotic process	ISS
GO:0043524	negative regulation of neuron apoptotic process	ISS
GO:0043627	response to estrogen	IEA
GO:0043932	ossification involved in bone remodeling	IEP
GO:0045216	cell-cell junction organization	IDA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0048286	lung alveolus development	ISS
GO:0048565	digestive tract development	IEA
GO:0048702	embryonic neurocranium morphogenesis	IEA
GO:0048839	inner ear development	IEA
GO:0050714	positive regulation of protein secretion	IDA
GO:0051491	positive regulation of filopodium assembly	ISS
GO:0051496	positive regulation of stress fiber assembly	IDA
GO:0051781	positive regulation of cell division	IEA
GO:0060325	face morphogenesis	IMP
GO:0060364	frontal suture morphogenesis	IEA
GO:0060391	positive regulation of SMAD protein signal transduction	ISS
GO:0060395	SMAD protein signal transduction	IBA
GO:0062009	secondary palate development	ISS
GO:0070483	detection of hypoxia	IDA
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	IDA
GO:1905075	positive regulation of tight junction disassembly	IDA
GO:1905005	regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA
GO:0005634	nucleus	IEA
GO:0005886	plasma membrane	IC
GO:0009986	cell surface	IEA
GO:0030315	T-tubule	IEA
GO:0031093	platelet alpha granule lumen	TAS
GO:0043025	neuronal cell body	IEA
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0062023	collagen-containing extracellular matrix	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109582	Hemostasis	TAS
R-HSA-114608	Platelet degranulation	TAS
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1566948	Elastic fibre formation	TAS
R-HSA-2129379	Molecules associated with elastic fibres	TAS
R-HSA-3000178	ECM proteoglycans	IEA
R-HSA-76002	Platelet activation, signaling and aggregation	TAS
R-HSA-76005	Response to elevated platelet cytosolic Ca2+	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[Dexamethasone co-treated with 8-Bromo Cyclic Adenosine Monophosphate co-treated with 1-Methyl-3-isobutylxanthine] results in decreased expression of TGFB3 mRNA	16997883
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of TGFB3 mRNA	28628672
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium affects the expression of TGFB3 mRNA	25234470
C581572	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea results in increased expression of TGFB3 mRNA	25827057
C581572	1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea	[Carbon Tetrachloride co-treated with 1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea] results in increased expression of TGFB3 mRNA	25827057
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of TGFB3 mRNA	19933214
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [FSHB protein affects the expression of TGFB3 mRNA]	19414516
C029955	2-nitrotoluene	2-nitrotoluene results in decreased expression of TGFB3 mRNA	16460773
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of TGFB3 mRNA	23196670
C031285	3-xylene	3-xylene results in decreased expression of TGFB3 mRNA	12815608
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [TGFB3 protein affects the localization of SMAD3 protein]	21586554
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [TGFB3 protein affects the localization of SMAD3 protein modified form]	21586554
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [TGFB3 protein affects the localization of SMAD4 protein]	21586554
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [TGFB3 protein results in increased secretion of Estradiol]	21586554
D015124	8-Bromo Cyclic Adenosine Monophosphate	[Dexamethasone co-treated with 8-Bromo Cyclic Adenosine Monophosphate co-treated with 1-Methyl-3-isobutylxanthine] results in decreased expression of TGFB3 mRNA	16997883
C496492	abrine	abrine results in increased expression of TGFB3 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of TGFB3 mRNA	17562736
D000111	Acetylcysteine	[Acetylcysteine co-treated with Cadmium] results in decreased expression of TGFB3 mRNA	29408318
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of TGFB3 mRNA]	29408318
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Cadmium results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Water Pollutants, Chemical results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Water Pollutants, Chemical results in increased expression of TGFB3 mRNA]	29408318
D020106	Acrylamide	Acrylamide results in increased expression of TGFB3 mRNA	28959563
C016601	afimoxifene	afimoxifene inhibits the reaction [Estrogens results in decreased expression of TGFB3 mRNA]	21233418
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of TGFB3 intron	30157460
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of TGFB3 mRNA	28522335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of TGFB3 mRNA	16483693
D000942	Antigens, Bacterial	[Antigens, Bacterial co-treated with Ovalbumin] results in decreased expression of TGFB3 mRNA	29067999
D000942	Antigens, Bacterial	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in decreased expression of TGFB3 mRNA]	29067999
D001104	Arbutin	Arbutin results in decreased expression of TGFB3 mRNA	17103032
D001151	Arsenic	Arsenic affects the methylation of TGFB3 gene	25304211
D001151	Arsenic	[Arsenic co-treated with Fluorides] results in decreased expression of TGFB3 mRNA	19962721
D001151	Arsenic	Arsenic results in decreased expression of TGFB3 mRNA	19962721
C015001	arsenite	arsenite results in increased expression of TGFB3 mRNA	18191166
D001205	Ascorbic Acid	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in decreased expression of MMP13 mRNA]	26526931
D001205	Ascorbic Acid	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]	26526931
D001205	Ascorbic Acid	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]	26526931
D001205	Ascorbic Acid	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA]	26526931
D001205	Ascorbic Acid	IL1B protein results in decreased susceptibility to [TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone]	26526931
D001205	Ascorbic Acid	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]]	26526931
D001205	Ascorbic Acid	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]]	26526931
D001205	Ascorbic Acid	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA]]	26526931
D001205	Ascorbic Acid	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in decreased expression of MMP13 mRNA	26526931
D001205	Ascorbic Acid	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA	26526931
D001205	Ascorbic Acid	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA	26526931
D001205	Ascorbic Acid	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA	26526931
C547126	AZM551248	AZM551248 results in increased expression of TGFB3 mRNA	22323515
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of TGFB3 mRNA	29950665
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in increased expression of TGFB3 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TGFB3 mRNA	15034205; 22228805;
D000077610	Bexarotene	Bexarotene results in increased expression of TGFB3 mRNA	16648578
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of TGFB3 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TGFB3 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of TGFB3 mRNA	11331657
C006780	bisphenol A	TGFB3 protein inhibits the reaction [bisphenol A results in increased expression of ESR1 mRNA]	26224478
C006780	bisphenol A	TGFB3 protein inhibits the reaction [bisphenol A results in increased expression of FOS mRNA]	26224478
C006780	bisphenol A	bisphenol A results in increased expression of TGFB3 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of TGFB3 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of TGFB3 mRNA	17052851
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of TGFB3 mRNA	28628672
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of TGFB3 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of TGFB3 mRNA	30951980
D001761	Bleomycin	Bleomycin results in increased expression of TGFB3 mRNA	28434932
D001761	Bleomycin	CCL12 protein affects the reaction [Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]]	28434932
D001761	Bleomycin	Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]	28434932
D001761	Bleomycin	HIF1A protein affects the reaction [Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]]	28434932
D001761	Bleomycin	MMP3 protein affects the reaction [Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]]	28434932
C546611	brevetoxin 2	brevetoxin 2 results in increased expression of TGFB3 mRNA	20498034
C099813	bromochloroacetic acid	bromochloroacetic acid results in decreased expression of TGFB3 mRNA	16460773
D020148	Butyric Acid	Butyric Acid results in increased expression of TGFB3 mRNA	17928716
D002104	Cadmium	[Acetylcysteine co-treated with Cadmium] results in decreased expression of TGFB3 mRNA	29408318
D002104	Cadmium	Acetylcysteine inhibits the reaction [Cadmium results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
D002104	Cadmium	Cadmium results in decreased expression of TGFB3 mRNA	20570719
D002104	Cadmium	Cadmium results in increased expression of and results in increased secretion of TGFB3 protein	29408318
D002104	Cadmium	Cadmium results in increased expression of TGFB3 protein	26424772
D002104	Cadmium	flavocoxid inhibits the reaction [Cadmium results in increased expression of TGFB3 protein]	26424772
D019256	Cadmium Chloride	Acetylcysteine inhibits the reaction [[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
D019256	Cadmium Chloride	Acetylcysteine inhibits the reaction [[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of TGFB3 mRNA]	29408318
D019256	Cadmium Chloride	[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of and results in increased secretion of TGFB3 protein	29408318
D019256	Cadmium Chloride	[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of TGFB3 mRNA	29408318
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of TGFB3 protein	26138014
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of TGFB3 protein	26424772
D019256	Cadmium Chloride	flavocoxid inhibits the reaction [Cadmium Chloride results in increased expression of TGFB3 protein]	26424772
D002117	Calcitriol	Calcitriol results in increased expression of TGFB3 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of TGFB3 mRNA	21592394
D002185	Cannabidiol	Cannabidiol affects the methylation of TGFB3 gene	30521419
D002211	Capsaicin	Capsaicin results in increased expression of TGFB3 protein	22150557
D002211	Capsaicin	[Naproxen co-treated with Sumatriptan] inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
D002211	Capsaicin	Naproxen inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
D002211	Capsaicin	Sumatriptan inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of TGFB3 mRNA	17484886
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with 1-trifluoromethoxyphenyl-3-(1-propionylpiperidine-4-yl)urea] results in increased expression of TGFB3 mRNA	25827057
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of TGFB3 mRNA	25827057
D002251	Carbon Tetrachloride	[Quercetin co-treated with Carbon Tetrachloride] results in increased expression of TGFB3 mRNA	22989100
D002752	Chlorthalidone	Chlorthalidone results in decreased expression of TGFB3 mRNA	20625077
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TGFB3 mRNA	20938992
D002945	Cisplatin	Cisplatin results in increased expression of TGFB3 mRNA	19561079
C007095	cobaltiprotoporphyrin	cobaltiprotoporphyrin inhibits the reaction [IL1B protein results in decreased secretion of TGFB3 protein]	21954917
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of TGFB3 mRNA	24386269
D016572	Cyclosporine	Cyclosporine results in decreased expression of TGFB3 mRNA	27989131
D003634	DDT	DDT results in increased expression of TGFB3 mRNA	29477483
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of TGFB3 mRNA	23640034
C007262	deoxynivalenol	deoxynivalenol promotes the reaction [Lipopolysaccharides results in increased expression of TGFB3 mRNA]	14644621
C007262	deoxynivalenol	deoxynivalenol results in increased expression of TGFB3 mRNA	14644621
D003907	Dexamethasone	[Dexamethasone co-treated with 8-Bromo Cyclic Adenosine Monophosphate co-treated with 1-Methyl-3-isobutylxanthine] results in decreased expression of TGFB3 mRNA	16997883
D003907	Dexamethasone	Dexamethasone results in increased expression of TGFB3 mRNA	16144937
D003907	Dexamethasone	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in decreased expression of MMP13 mRNA]	26526931
D003907	Dexamethasone	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]	26526931
D003907	Dexamethasone	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]	26526931
D003907	Dexamethasone	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA]	26526931
D003907	Dexamethasone	IL1B protein results in decreased susceptibility to [TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone]	26526931
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of TGFB3 mRNA	28628672
D003907	Dexamethasone	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]]	26526931
D003907	Dexamethasone	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]]	26526931
D003907	Dexamethasone	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA]]	26526931
D003907	Dexamethasone	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in decreased expression of MMP13 mRNA	26526931
D003907	Dexamethasone	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA	26526931
D003907	Dexamethasone	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA	26526931
D003907	Dexamethasone	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA	26526931
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of TGFB3 mRNA	29950665
D003975	Diazepam	Diazepam results in decreased expression of TGFB3 mRNA	19114084
D003976	Diazinon	Diazinon results in increased expression of TGFB3 mRNA	16758764
D003976	Diazinon	Diazinon affects the expression of TGFB3 mRNA	22546817
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of TGFB3 mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of TGFB3 mRNA	19464577
C027118	didecyldimethylammonium	didecyldimethylammonium results in decreased expression of TGFB3 mRNA	23537712
D004026	Dieldrin	Dieldrin affects the expression of TGFB3 mRNA	22546817
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate affects the expression of TGFB3 mRNA	20920545
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of TGFB3 mRNA	15765122; 18282651;
D004052	Diethylnitrosamine	RB1 protein promotes the reaction [Diethylnitrosamine results in increased expression of TGFB3 mRNA]	18282651
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of TGFB3 mRNA	10811566; 11331657;
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of TGFB3 mRNA	25380136
D015232	Dinoprostone	CCL12 protein affects the reaction [Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]]	28434932
D015232	Dinoprostone	Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]	28434932
D015232	Dinoprostone	HIF1A protein affects the reaction [Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]]	28434932
D015232	Dinoprostone	MMP3 protein affects the reaction [Dinoprostone inhibits the reaction [Bleomycin results in increased expression of TGFB3 mRNA]]	28434932
D004237	Diuron	Diuron results in decreased expression of TGFB3 mRNA	25152437
D013759	Dronabinol	Dronabinol affects the expression of TGFB3 mRNA	18454173
D013759	Dronabinol	Dronabinol affects the reaction [Estradiol results in increased expression of TGFB3 mRNA]	8390853
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in decreased expression of TGFB3 mRNA	29667321
D004726	Endosulfan	Endosulfan results in decreased expression of TGFB3 mRNA	29391264
D004918	Erythromycin Estolate	Erythromycin Estolate results in decreased expression of TGFB3 mRNA	24412560
D004958	Estradiol	[Estradiol co-treated with EGF protein] results in decreased expression of TGFB3 mRNA	24758408
D004958	Estradiol	Estradiol results in decreased expression of TGFB3 mRNA	16202921; 24758408;
D004958	Estradiol	Estradiol results in increased expression of TGFB3 mRNA	10811566; 11331657; 19484750; 26921789;
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of TGFB3 mRNA	17404688
D004958	Estradiol	TGFB3 protein inhibits the reaction [Estradiol results in increased expression of ESR1 mRNA]	26224478
D004958	Estradiol	TGFB3 protein inhibits the reaction [Estradiol results in increased expression of FOS mRNA]	26224478
D004958	Estradiol	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide inhibits the reaction [TGFB3 protein results in increased secretion of Estradiol]	21586554
D004958	Estradiol	Dronabinol affects the reaction [Estradiol results in increased expression of TGFB3 mRNA]	8390853
D004958	Estradiol	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of TGFB3 mRNA	11861973
D004958	Estradiol	Estradiol results in increased expression of TGFB3 mRNA	19484750; 8390853;
D004958	Estradiol	FSHB protein promotes the reaction [TGFB3 protein results in increased secretion of Estradiol]	21586554
D004958	Estradiol	TGFB3 protein results in increased secretion of Estradiol	21586554
D004967	Estrogens	afimoxifene inhibits the reaction [Estrogens results in decreased expression of TGFB3 mRNA]	21233418
D004967	Estrogens	Estrogens results in decreased expression of TGFB3 mRNA	21233418
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of TGFB3 mRNA	15885639
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TGFB3 mRNA	12538720
C540355	fenamidone	fenamidone results in increased expression of TGFB3 mRNA	27029645
C504383	fenbuconazole	fenbuconazole results in increased expression of TGFB3 mRNA	15942997
D017313	Fenretinide	Fenretinide results in decreased expression of TGFB3 mRNA	28973697
C544478	flavocoxid	flavocoxid inhibits the reaction [Cadmium Chloride results in increased expression of TGFB3 protein]	26424772
C544478	flavocoxid	flavocoxid inhibits the reaction [Cadmium results in increased expression of TGFB3 protein]	26424772
D005459	Fluorides	[Arsenic co-treated with Fluorides] results in decreased expression of TGFB3 mRNA	19962721
D005459	Fluorides	Fluorides results in decreased expression of TGFB3 mRNA	19962721
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TGFB3 mRNA	20938992
D005620	Freund's Adjuvant	Freund's Adjuvant inhibits the reaction [Urethane results in decreased expression of TGFB3 mRNA]	12810352
D005620	Freund's Adjuvant	[Urethane co-treated with Freund's Adjuvant] results in decreased expression of TGFB3 mRNA	12400877
C039281	furan	furan results in increased expression of TGFB3 mRNA	27387713
D019833	Genistein	Genistein results in increased expression of TGFB3 mRNA	11331657
C004312	glycidol	glycidol results in increased expression of TGFB3 mRNA	24915197
C010176	halofuginone	halofuginone results in increased expression of TGFB3 mRNA	17180598
C089796	hexabromocyclododecane	hexabromocyclododecane results in decreased expression of TGFB3 mRNA	24680724
C089796	hexabromocyclododecane	hexabromocyclododecane results in decreased expression of TGFB3 mRNA	30594549
D006581	Hexachlorobenzene	Hexachlorobenzene results in decreased expression of TGFB3 mRNA	15159207
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of TGFB3 mRNA	20044591
C474021	indirubin-3'-monoxime	indirubin-3'-monoxime results in increased expression of TGFB3 protein	21948866
C474021	indirubin-3'-monoxime	Lipopolysaccharides affects the susceptibility to [indirubin-3'-monoxime results in increased expression of TGFB3 protein]	21948866
C016517	indole-3-carbinol	indole-3-carbinol results in increased expression of TGFB3 mRNA	21948866
C016517	indole-3-carbinol	Lipopolysaccharides affects the susceptibility to [indole-3-carbinol results in increased expression of TGFB3 mRNA]	21948866
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of TGFB3 mRNA	28628672
D007213	Indomethacin	Indomethacin results in increased expression of TGFB3 mRNA	18299717
D007213	Indomethacin	rebamipide inhibits the reaction [Indomethacin results in increased expression of TGFB3 mRNA]	18299717
C544151	jinfukang	jinfukang results in decreased expression of TGFB3 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of TGFB3 mRNA	26752646
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of TGFB3 mRNA	26644586
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of TGFB3 mRNA	24972896
D008070	Lipopolysaccharides	deoxynivalenol promotes the reaction [Lipopolysaccharides results in increased expression of TGFB3 mRNA]	14644621
D008070	Lipopolysaccharides	Lipopolysaccharides affects the susceptibility to [indirubin-3'-monoxime results in increased expression of TGFB3 protein]	21948866
D008070	Lipopolysaccharides	Lipopolysaccharides affects the susceptibility to [indole-3-carbinol results in increased expression of TGFB3 mRNA]	21948866
D008070	Lipopolysaccharides	[[Lipopolysaccharides binds to and results in increased activity of TLR4 protein] which co-treated with Tetrachlorodibenzodioxin] results in increased expression of TGFB3 mRNA	21097750
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of TGFB3 mRNA	14644621
C520284	Ly-364947	Ly-364947 affects the reaction [TGFB3 protein results in increased expression of SERPINE1 mRNA]	25566828
C520284	Ly-364947	Ly-364947 inhibits the reaction [TGFB3 protein results in increased expression of ACTA2 mRNA]	25566828
C520284	Ly-364947	Ly-364947 inhibits the reaction [TGFB3 protein results in increased expression of CCN2 mRNA]	25566828
C520284	Ly-364947	Ly-364947 inhibits the reaction [TGFB3 protein results in increased expression of SMAD2 protein modified form]	25566828
C520284	Ly-364947	Ly-364947 inhibits the reaction [TGFB3 protein results in increased expression of SMAD3 protein modified form]	25566828
C025340	manganese chloride	manganese chloride results in decreased expression of TGFB3 mRNA	28801915
D017258	Medroxyprogesterone Acetate	Medroxyprogesterone Acetate results in decreased expression of TGFB3 mRNA	20843944
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of TGFB3 mRNA	20938992
C005219	methyl cellosolve	methyl cellosolve results in increased expression of TGFB3 mRNA	21061450
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of TGFB3 mRNA	29191790
C500085	muraglitazar	muraglitazar results in decreased expression of TGFB3 mRNA	21515302
D009151	Mustard Gas	Mustard Gas results in decreased expression of TGFB3 mRNA	18955075
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of TGFB3 mRNA	25554681
D009288	Naproxen	[Naproxen co-treated with Sumatriptan] inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
D009288	Naproxen	Naproxen inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of TGFB3 mRNA	19812364
D009532	Nickel	Nickel results in decreased expression of TGFB3 mRNA	24084258
C022838	nickel chloride	nickel chloride affects the expression of TGFB3 mRNA	22546817
C007350	nitrofen	nitrofen results in decreased expression of TGFB3 mRNA	20638522
C025256	nonylphenol	TGFB3 protein inhibits the reaction [nonylphenol results in increased expression of ESR1 mRNA]	26224478
C025256	nonylphenol	TGFB3 protein inhibits the reaction [nonylphenol results in increased expression of FOS mRNA]	26224478
D009638	Norepinephrine	Norepinephrine results in increased expression of TGFB3 mRNA	15326086
D009638	Norepinephrine	Prazosin inhibits the reaction [Norepinephrine results in increased expression of TGFB3 mRNA]	15326086
C464660	obeticholic acid	obeticholic acid results in increased expression of TGFB3 mRNA	27939613
C474055	octylphenol	TGFB3 protein inhibits the reaction [octylphenol results in increased expression of ESR1 mRNA]	26224478
C474055	octylphenol	TGFB3 protein inhibits the reaction [octylphenol results in increased expression of FOS mRNA]	26224478
D000069463	Olive Oil	Olive Oil results in increased expression of TGFB3 mRNA	26240151
C508548	ormeloxifene	ormeloxifene affects the expression of TGFB3 mRNA	16797179
D010042	Ouabain	Ouabain results in decreased expression of TGFB3 mRNA	28795476
D010047	Ovalbumin	[Antigens, Bacterial co-treated with Ovalbumin] results in decreased expression of TGFB3 mRNA	29067999
D010047	Ovalbumin	MYD88 gene mutant form affects the reaction [[Antigens, Bacterial co-treated with Ovalbumin] results in decreased expression of TGFB3 mRNA]	29067999
D010047	Ovalbumin	[Ovalbumin affects the susceptibility to Particulate Matter] which results in increased expression of TGFB3 mRNA	19176365
D010047	Ovalbumin	[Particulate Matter co-treated with Ovalbumin] results in increased expression of TGFB3 mRNA	19176365
D010100	Oxygen	Oxygen deficiency results in increased expression of TGFB3 mRNA	21531777
D010100	Oxygen	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of TGFB3 mRNA]	21531777
D010269	Paraquat	Paraquat results in increased expression of TGFB3 mRNA	18198484
C084656	paricalcitol	[Phosphorus co-treated with paricalcitol] results in increased expression of TGFB3 mRNA	17715259
D052638	Particulate Matter	[Ovalbumin affects the susceptibility to Particulate Matter] which results in increased expression of TGFB3 mRNA	19176365
D052638	Particulate Matter	[Particulate Matter co-treated with Ovalbumin] results in increased expression of TGFB3 mRNA	19176365
D052638	Particulate Matter	Particulate Matter results in increased expression of TGFB3 protein	29673083
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of TGFB3 mRNA	28511854
D010578	Petroleum	Petroleum affects the expression of TGFB3 mRNA	25208076
D010656	Phenylephrine	Phenylephrine results in increased expression of TGFB3 mRNA	18158353
D010672	Phenytoin	Phenytoin results in increased expression of TGFB3 mRNA	14741686
D010758	Phosphorus	[Phosphorus co-treated with paricalcitol] results in increased expression of TGFB3 mRNA	17715259
D010795	Phthalic Acids	Phthalic Acids results in increased expression of TGFB3 mRNA	21061450
D010936	Plant Extracts	Plant Extracts results in decreased expression of TGFB3 mRNA	15268973
D011224	Prazosin	Prazosin inhibits the reaction [Norepinephrine results in increased expression of TGFB3 mRNA]	15326086
D011374	Progesterone	Progesterone results in decreased expression of TGFB3 mRNA	23012394
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of TGFB3 mRNA	17404688
D011441	Propylthiouracil	Propylthiouracil results in increased expression of TGFB3 mRNA	25825206
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of TGFB3 mRNA	27029645
C014175	pyrazolo(3,4-d)pyrimidine	pyrazolo(3,4-d)pyrimidine analog affects the expression of TGFB3 mRNA	21152443
D011794	Quercetin	[Quercetin co-treated with Carbon Tetrachloride] results in increased expression of TGFB3 mRNA	22989100
D020849	Raloxifene Hydrochloride	ESR1 protein affects the reaction [Raloxifene Hydrochloride results in increased expression of TGFB3 mRNA]	14699072
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of TGFB3 mRNA	14699072
C052785	rebamipide	rebamipide inhibits the reaction [Indomethacin results in increased expression of TGFB3 mRNA]	18299717
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]]	26526931
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of COL2A1 mRNA]]	26526931
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of SOX9 mRNA]]	26526931
C071721	Ro 41-0960	Ro 41-0960 results in decreased expression of TGFB3 mRNA	21896544
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [Oxygen deficiency results in increased expression of TGFB3 mRNA]	21531777
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of TGFB3 mRNA	21531777
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of TGFB3 mRNA	21515302
D012715	Sesame Oil	Sesame Oil results in increased expression of TGFB3 mRNA	29191790
C017947	sodium arsenite	Acetylcysteine inhibits the reaction [[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
C017947	sodium arsenite	Acetylcysteine inhibits the reaction [[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of TGFB3 mRNA]	29408318
C017947	sodium arsenite	[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of and results in increased secretion of TGFB3 protein	29408318
C017947	sodium arsenite	[Cadmium Chloride co-treated with sodium arsenite] results in increased expression of TGFB3 mRNA	29408318
C017947	sodium arsenite	sodium arsenite results in increased expression of TGFB3 mRNA	12016162
C017947	sodium arsenite	sodium arsenite results in decreased expression of TGFB3 mRNA	16014739
C017947	sodium arsenite	sodium arsenite results in increased expression of TGFB3 mRNA	11241755
C538809	sodium pentaborate	sodium pentaborate analog results in increased expression of TGFB3 protein	27206737
D018170	Sumatriptan	[Naproxen co-treated with Sumatriptan] inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
D018170	Sumatriptan	Sumatriptan inhibits the reaction [Capsaicin results in increased expression of TGFB3 protein]	22150557
D000077210	Sunitinib	Sunitinib results in decreased expression of TGFB3 mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in decreased expression of TGFB3 mRNA	26908177
C501413	tesaglitazar	tesaglitazar results in decreased expression of TGFB3 mRNA	21515302
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of TGFB3 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of TGFB3 mRNA	21592394
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of TGFB3 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TGFB3 mRNA	9787404
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TGFB3 mRNA	7755487
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TGFB3 protein	9787404
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of TGFB3 mRNA]	14728982
D013749	Tetrachlorodibenzodioxin	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of TGFB3 mRNA	11861973
D013749	Tetrachlorodibenzodioxin	[[Lipopolysaccharides binds to and results in increased activity of TLR4 protein] which co-treated with Tetrachlorodibenzodioxin] results in increased expression of TGFB3 mRNA	21097750
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TGFB3 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TGFB3 mRNA	14728982; 17586704; 18684927; 19933214; 20350561; 9224809;
D013749	Tetrachlorodibenzodioxin	TGFB3 protein affects the susceptibility to Tetrachlorodibenzodioxin	15668235
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TGFB3 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of and affects the localization of TGFB3 protein	11752688
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TGFB3 mRNA	15358164
D013853	Thioacetamide	Thioacetamide results in increased expression of TGFB3 mRNA	17292413
D013893	Thiram	Thiram results in decreased expression of TGFB3 mRNA	20530235
C078041	tin sulfide	tin sulfide results in increased expression of TGFB3 mRNA	29069489
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of TGFB3 mRNA	29950665
D014212	Tretinoin	TGFB3 protein inhibits the reaction [Tretinoin results in decreased expression of FBN2]	24374174
D014212	Tretinoin	TGFB3 protein inhibits the reaction [Tretinoin results in decreased expression of FN1]	24374174
D014212	Tretinoin	TGFB3 protein inhibits the reaction [Tretinoin results in decreased expression of TNC]	24374174
D014212	Tretinoin	Tretinoin results in decreased expression of TGFB3	24374174
D014212	Tretinoin	Tretinoin results in decreased expression of TGFB3 mRNA	23830798
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of TGFB3 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of TGFB3 mRNA	30951980
D014212	Tretinoin	Tretinoin affects the expression of TGFB3 mRNA	16235736
D014212	Tretinoin	Tretinoin results in increased expression of TGFB3 mRNA	12834868; 16410076;
D000077288	Troglitazone	Troglitazone results in decreased expression of TGFB3 mRNA	21515302
D014520	Urethane	Freund's Adjuvant inhibits the reaction [Urethane results in decreased expression of TGFB3 mRNA]	12810352
D014520	Urethane	IFNG protein inhibits the reaction [Urethane results in decreased expression of TGFB3 mRNA]	12810352
D014520	Urethane	[Urethane co-treated with Freund's Adjuvant] results in decreased expression of TGFB3 mRNA	12400877
D014520	Urethane	Urethane results in decreased expression of TGFB3 mRNA	12400877; 12810352;
D014635	Valproic Acid	Valproic Acid results in decreased expression of TGFB3 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased methylation of TGFB3 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of TGFB3 mRNA	17963808
D014635	Valproic Acid	Valproic Acid results in increased expression of TGFB3 mRNA	24896083
D001335	Vehicle Emissions	Vehicle Emissions results in decreased expression of TGFB3 mRNA	19165385
D014801	Vitamin A	Vitamin A results in increased expression of TGFB3 mRNA	17225872
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical affects the expression of TGFB3 mRNA	25208076
D014874	Water Pollutants, Chemical	Acetylcysteine inhibits the reaction [Water Pollutants, Chemical results in increased expression of and results in increased secretion of TGFB3 protein]	29408318
D014874	Water Pollutants, Chemical	Acetylcysteine inhibits the reaction [Water Pollutants, Chemical results in increased expression of TGFB3 mRNA]	29408318
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in increased expression of and results in increased secretion of TGFB3 protein	29408318
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in increased expression of TGFB3 mRNA	29408318
D015029	Zeranol	Zeranol results in increased expression of TGFB3 mRNA	10811566; 11331657;
D015034	Zinc Oxide	Zinc Oxide affects the expression of TGFB3 mRNA	28648595

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0122	Cardiomyopathy
KW-0165	Cleavage on pair of basic residues
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0488	Methylation
KW-0497	Mitogen
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR001111	TGF-b_propeptide
IPR016319	TGF-beta
IPR015615	TGF-beta-rel
IPR015618	TGFB3
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta
PF00688	TGFb_propeptide

Gene: TGFB3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction