CleftGeneDB-Search

Gene: PDGFC

Basic information

Tag	Content
Uniprot ID	Q9NRA1; B4DU34; B9EGR8; Q4W5M9; Q9UL22;
Entrez ID	56034
Genbank protein ID	AAY40906.1; BAB03266.1; AAF00049.1; AAQ88857.1; EAX04874.1; EAX04875.1; CAP58278.1; AAK51637.1; AAI36663.1; AAF80597.1; BAG62196.1;
Genbank nucleotide ID	XM_017008456.1; NM_016205.2;
Ensembl protein ID	ENSP00000410048; ENSP00000422464;
Ensembl nucleotide ID	ENSG00000145431
Gene name	Platelet-derived growth factor C
Gene symbol	PDGFC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	23029525
Functional description	Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in three stages: inflammation, proliferation and remodeling. Plays an important role in angiogenesis and blood vessel development. Involved in fibrotic processes, in which transformation of interstitial fibroblasts into myofibroblasts plus collagen deposition occurs. The CUB domain has mitogenic activity in coronary artery smooth muscle cells, suggesting a role beyond the maintenance of the latency of the PDGF domain. In the nucleus, PDGFC seems to have additional function.
Sequence	MSLFGLLLLT SALAGQRQGT QAESNLSSKF QFSSNKEQNG VQDPQHERII TVSTNGSIHS 60 PRFPHTYPRN TVLVWRLVAV EENVWIQLTF DERFGLEDPE DDICKYDFVE VEEPSDGTIL 120 GRWCGSGTVP GKQISKGNQI RIRFVSDEYF PSEPGFCIHY NIVMPQFTEA VSPSVLPPSA 180 LPLDLLNNAI TAFSTLEDLI RYLEPERWQL DLEDLYRPTW QLLGKAFVFG RKSRVVDLNL 240 LTEEVRLYSC TPRNFSVSIR EELKRTDTIF WPGCLLVKRC GGNCACCLHN CNECQCVPSK 300 VTKKYHEVLQ LRPKTGVRGL HKSLTDVALE HHEECDCVCR GSTGG 345

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PDGFC	102168934	A0A452ET29			Capra hircus	Prediction	More>>
1:1 ortholog	PDGFC	100062015	A0A3Q2HV05			Equus caballus	Prediction	More>>
1:1 ortholog	PDGFC	56034	Q9NRA1			Homo sapiens	Publication	More>>
1:1 ortholog	Pdgfc	54635	Q8CI19	CPO	E12.5, E13.5	Mus musculus	Publication	More>>
1:1 ortholog	PDGFC		H2QQC3			Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A481CL63			Sus scrofa	Prediction	More>>
1:1 ortholog	PDGFC	100350272	G1TDA1			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Pdgfc	79429	Q9EQX6			Rattus norvegicus	Prediction	More>>
1:1 ortholog	pdgfc	560564	E7FB33			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PDGFC	c.93G>T; p.Q31H	WES and Sanger sequencing	26449438
PDGFC	rs17035464	Genotyping; TDT	23029525

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs371638899	p.Ser2Asn	missense variant	-	NC_000004.12:g.156970899C>T	ESP,ExAC,TOPMed,gnomAD
rs371638899	p.Ser2Ile	missense variant	-	NC_000004.12:g.156970899C>A	ESP,ExAC,TOPMed,gnomAD
rs780536683	p.Gly5Arg	missense variant	-	NC_000004.12:g.156970891C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu6Arg	missense variant	-	NC_000004.12:g.156970887A>C	NCI-TCGA
rs750927647	p.Leu7Ile	missense variant	-	NC_000004.12:g.156970885G>T	ExAC,TOPMed,gnomAD
rs1229291727	p.Ser11Cys	missense variant	-	NC_000004.12:g.156970872G>C	TOPMed
NCI-TCGA novel	p.Ala12Pro	missense variant	-	NC_000004.12:g.156970870C>G	NCI-TCGA
rs757786156	p.Leu13Val	missense variant	-	NC_000004.12:g.156970867G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu13ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.156970858_156970867GGCCGGCCAG>-	NCI-TCGA
rs200141022	p.Ala14Gly	missense variant	-	NC_000004.12:g.156970863G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200141022	p.Ala14Val	missense variant	-	NC_000004.12:g.156970863G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752398576	p.Gly15Cys	missense variant	-	NC_000004.12:g.156970861C>A	ExAC,TOPMed,gnomAD
rs1410403807	p.Arg17Ser	missense variant	-	NC_000004.12:g.156970853T>A	gnomAD
rs902283916	p.Gln18Arg	missense variant	-	NC_000004.12:g.156970851T>C	gnomAD
rs902283916	p.Gln18Pro	missense variant	-	NC_000004.12:g.156970851T>G	gnomAD
rs767333984	p.Gln18Glu	missense variant	-	NC_000004.12:g.156970852G>C	ExAC,gnomAD
rs1457774354	p.Gly19Val	missense variant	-	NC_000004.12:g.156970848C>A	TOPMed
rs561086846	p.Thr20Ile	missense variant	-	NC_000004.12:g.156970845G>A	1000Genomes,ExAC,gnomAD
rs774205332	p.Gln21Pro	missense variant	-	NC_000004.12:g.156970842T>G	ExAC,gnomAD
rs766170502	p.Ala22Val	missense variant	-	NC_000004.12:g.156970839G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala22Glu	missense variant	-	NC_000004.12:g.156970839G>T	NCI-TCGA
rs1182260986	p.Asn25Ile	missense variant	-	NC_000004.12:g.156970830T>A	TOPMed
rs1182260986	p.Asn25Ser	missense variant	-	NC_000004.12:g.156970830T>C	TOPMed
rs768899191	p.Leu26Arg	missense variant	-	NC_000004.12:g.156970827A>C	ExAC,gnomAD
rs747210671	p.Ser27Asn	missense variant	-	NC_000004.12:g.156970824C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser27Gly	missense variant	-	NC_000004.12:g.156970825T>C	NCI-TCGA
COSM1052563	p.Ser27Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156970824C>A	NCI-TCGA Cosmic
rs1260420101	p.Ser28Thr	missense variant	-	NC_000004.12:g.156970821C>G	TOPMed,gnomAD
rs775910775	p.Phe30Leu	missense variant	-	NC_000004.12:g.156970814G>T	ExAC,gnomAD
rs149931440	p.Gln31His	missense variant	-	NC_000004.12:g.156970811C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149931440	p.Gln31His	missense variant	-	NC_000004.12:g.156970811C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1263443137	p.Ser34Gly	missense variant	-	NC_000004.12:g.156970804T>C	gnomAD
rs749823455	p.Lys36Asn	missense variant	-	NC_000004.12:g.156970796C>G	ExAC,gnomAD
rs1442880005	p.Glu37Asp	missense variant	-	NC_000004.12:g.156970793T>G	gnomAD
rs139145392	p.Gln38Arg	missense variant	-	NC_000004.12:g.156970791T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750380935	p.Gly40Glu	missense variant	-	NC_000004.12:g.156850416C>T	ExAC,gnomAD
rs755681238	p.Gly40Arg	missense variant	-	NC_000004.12:g.156970786C>G	ExAC,gnomAD
rs755681238	p.Gly40Arg	missense variant	-	NC_000004.12:g.156970786C>T	ExAC,gnomAD
rs750380935	p.Gly40Ala	missense variant	-	NC_000004.12:g.156850416C>G	ExAC,gnomAD
rs761855036	p.Gln42Arg	missense variant	-	NC_000004.12:g.156850410T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln42His	missense variant	-	NC_000004.12:g.156850409T>G	NCI-TCGA
rs146333661	p.His46Gln	missense variant	-	NC_000004.12:g.156850397A>T	ESP,ExAC,TOPMed,gnomAD
rs767663101	p.His46Arg	missense variant	-	NC_000004.12:g.156850398T>C	ExAC,gnomAD
rs752667042	p.His46Tyr	missense variant	-	NC_000004.12:g.156850399G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg48Lys	missense variant	-	NC_000004.12:g.156850392C>T	NCI-TCGA
COSM3428282	p.Arg48Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850392C>A	NCI-TCGA Cosmic
rs1413516396	p.Ile50Val	missense variant	-	NC_000004.12:g.156850387T>C	gnomAD
NCI-TCGA novel	p.Ile50Thr	missense variant	-	NC_000004.12:g.156850386A>G	NCI-TCGA
rs774680655	p.Ile50Met	missense variant	-	NC_000004.12:g.156850385A>C	ExAC,gnomAD
rs1378336819	p.Thr54Ala	missense variant	-	NC_000004.12:g.156850375T>C	gnomAD
rs1478561664	p.Asn55Asp	missense variant	-	NC_000004.12:g.156850372T>C	gnomAD
NCI-TCGA novel	p.Gly56Arg	missense variant	-	NC_000004.12:g.156850369C>T	NCI-TCGA
NCI-TCGA novel	p.Gly56Glu	missense variant	-	NC_000004.12:g.156850368C>T	NCI-TCGA
rs771283512	p.Ser57Arg	missense variant	-	NC_000004.12:g.156850366T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser57Ile	missense variant	-	NC_000004.12:g.156850365C>A	NCI-TCGA
rs763240700	p.Ile58Val	missense variant	-	NC_000004.12:g.156850363T>C	ExAC,gnomAD
rs1214202962	p.Ile58Thr	missense variant	-	NC_000004.12:g.156850362A>G	TOPMed
rs1490360730	p.His59Arg	missense variant	-	NC_000004.12:g.156850359T>C	gnomAD
NCI-TCGA novel	p.Arg62Gly	missense variant	-	NC_000004.12:g.156850351T>C	NCI-TCGA
rs1285168954	p.Pro64Ser	missense variant	-	NC_000004.12:g.156850345G>A	TOPMed
rs773583675	p.His65Arg	missense variant	-	NC_000004.12:g.156850341T>C	ExAC,gnomAD
rs1490504018	p.Thr66Ala	missense variant	-	NC_000004.12:g.156850339T>C	TOPMed
COSM3601327	p.Pro68Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850333G>A	NCI-TCGA Cosmic
rs1320903452	p.Arg69Gly	missense variant	-	NC_000004.12:g.156850330T>C	gnomAD
NCI-TCGA novel	p.Arg69Lys	missense variant	-	NC_000004.12:g.156850329C>T	NCI-TCGA
rs765407120	p.Asn70Asp	missense variant	-	NC_000004.12:g.156850327T>C	TOPMed,gnomAD
rs370076533	p.Thr71Met	missense variant	-	NC_000004.12:g.156850323G>A	ESP,ExAC,TOPMed,gnomAD
rs1399521744	p.Val74Leu	missense variant	-	NC_000004.12:g.156850315C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Trp75Cys	missense variant	-	NC_000004.12:g.156850310C>G	NCI-TCGA
COSM3601326	p.Trp75Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156850311C>T	NCI-TCGA Cosmic
rs1368392765	p.Arg76Ser	missense variant	-	NC_000004.12:g.156850307T>A	gnomAD
rs1295866378	p.Val78Leu	missense variant	-	NC_000004.12:g.156850303C>G	gnomAD
rs768262677	p.Val78Glu	missense variant	-	NC_000004.12:g.156850302A>T	ExAC,gnomAD
rs1366701791	p.Val80Glu	missense variant	-	NC_000004.12:g.156850296A>T	TOPMed
COSM4123063	p.Glu81Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850292C>A	NCI-TCGA Cosmic
rs1349672377	p.Glu82Gly	missense variant	-	NC_000004.12:g.156850290T>C	gnomAD
COSM3601325	p.Glu82Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850291C>T	NCI-TCGA Cosmic
rs1427163786	p.Asn83Ser	missense variant	-	NC_000004.12:g.156850287T>C	TOPMed
COSM4123062	p.Val84Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850285C>T	NCI-TCGA Cosmic
rs758126449	p.Trp85Cys	missense variant	-	NC_000004.12:g.156850280C>A	ExAC,gnomAD
rs1192469833	p.Ile86Val	missense variant	-	NC_000004.12:g.156850279T>C	gnomAD
rs1392045879	p.Gln87Arg	missense variant	-	NC_000004.12:g.156850275T>C	TOPMed
rs368835623	p.Thr89Arg	missense variant	-	NC_000004.12:g.156850269G>C	ESP,ExAC,TOPMed,gnomAD
rs368835623	p.Thr89Met	missense variant	-	NC_000004.12:g.156850269G>A	ESP,ExAC,TOPMed,gnomAD
rs757216782	p.Glu92Asp	missense variant	-	NC_000004.12:g.156850259T>G	ExAC,gnomAD
rs753850250	p.Arg93Lys	missense variant	-	NC_000004.12:g.156850257C>T	ExAC
rs759716749	p.Leu96Phe	missense variant	-	NC_000004.12:g.156850249G>A	ExAC,gnomAD
rs759716749	p.Leu96Ile	missense variant	-	NC_000004.12:g.156850249G>T	ExAC,gnomAD
COSM3917330	p.Glu97Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850246C>T	NCI-TCGA Cosmic
rs1269009732	p.Asp98Val	missense variant	-	NC_000004.12:g.156850242T>A	TOPMed,gnomAD
rs751597903	p.Pro99Thr	missense variant	-	NC_000004.12:g.156850240G>T	ExAC,gnomAD
rs1315801636	p.Glu100Asp	missense variant	-	NC_000004.12:g.156850235T>G	gnomAD
rs1218233550	p.Asp102Gly	missense variant	-	NC_000004.12:g.156850230T>C	gnomAD
rs940880207	p.Asp102Asn	missense variant	-	NC_000004.12:g.156850231C>T	TOPMed
rs1303422373	p.Ile103Val	missense variant	-	NC_000004.12:g.156850228T>C	gnomAD
rs763188788	p.Lys105Arg	missense variant	-	NC_000004.12:g.156850221T>C	ExAC,gnomAD
rs749165375	p.Tyr106Cys	missense variant	-	NC_000004.12:g.156811015T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu110Ter	stop gained	-	NC_000004.12:g.156811004C>A	NCI-TCGA
rs568689484	p.Val111Ile	missense variant	-	NC_000004.12:g.156811001C>T	ExAC,TOPMed,gnomAD
rs1242871066	p.Glu112Lys	missense variant	-	NC_000004.12:g.156810998C>T	gnomAD
rs969240001	p.Glu112Asp	missense variant	-	NC_000004.12:g.156810996C>G	TOPMed,gnomAD
rs910536904	p.Ser115Asn	missense variant	-	NC_000004.12:g.156810988C>T	TOPMed
COSM3601324	p.Gly117Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810982C>T	NCI-TCGA Cosmic
rs1300684521	p.Ile119Thr	missense variant	-	NC_000004.12:g.156810976A>G	gnomAD
rs751613380	p.Ile119Val	missense variant	-	NC_000004.12:g.156810977T>C	ExAC,gnomAD
rs1256069208	p.Gly121Val	missense variant	-	NC_000004.12:g.156810970C>A	TOPMed
rs374056468	p.Arg122Cys	missense variant	-	NC_000004.12:g.156810968G>A	ESP,ExAC,TOPMed,gnomAD
COSM733345	p.Arg122Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810967C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys124Tyr	missense variant	-	NC_000004.12:g.156810961C>T	NCI-TCGA
rs765573815	p.Gly127Ala	missense variant	-	NC_000004.12:g.156810952C>G	ExAC,TOPMed,gnomAD
rs765573815	p.Gly127Asp	missense variant	-	NC_000004.12:g.156810952C>T	ExAC,TOPMed,gnomAD
rs765573815	p.Gly127Val	missense variant	-	NC_000004.12:g.156810952C>A	ExAC,TOPMed,gnomAD
rs776862036	p.Val129Ala	missense variant	-	NC_000004.12:g.156810946A>G	ExAC,gnomAD
rs775096431	p.Gly131Glu	missense variant	-	NC_000004.12:g.156810940C>T	ExAC,TOPMed,gnomAD
rs761104554	p.Gly131Arg	missense variant	-	NC_000004.12:g.156810941C>G	ExAC,gnomAD
rs775096431	p.Gly131Ala	missense variant	-	NC_000004.12:g.156810940C>G	ExAC,TOPMed,gnomAD
rs771747215	p.Gln133Arg	missense variant	-	NC_000004.12:g.156810934T>C	ExAC,gnomAD
rs745492710	p.Lys136Asn	missense variant	-	NC_000004.12:g.156810924T>A	ExAC,TOPMed,gnomAD
rs774202989	p.Gly137Arg	missense variant	-	NC_000004.12:g.156810923C>T	ExAC,gnomAD
rs770625749	p.Gly137Ala	missense variant	-	NC_000004.12:g.156810922C>G	ExAC,gnomAD
COSM1539596	p.Gly137Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810922C>T	NCI-TCGA Cosmic
COSM4493470	p.Gln139Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156810917G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile140Val	missense variant	-	NC_000004.12:g.156810914T>C	NCI-TCGA
NCI-TCGA novel	p.Arg141Ser	missense variant	-	NC_000004.12:g.156810909C>G	NCI-TCGA
NCI-TCGA novel	p.Arg141Lys	missense variant	-	NC_000004.12:g.156810910C>T	NCI-TCGA
rs1467376775	p.Arg143Lys	missense variant	-	NC_000004.12:g.156810904C>T	TOPMed
rs1401367940	p.Tyr149Cys	missense variant	-	NC_000004.12:g.156810886T>C	TOPMed
COSM3601321	p.Pro151Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810881G>A	NCI-TCGA Cosmic
rs748127729	p.Glu153Lys	missense variant	-	NC_000004.12:g.156810875C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu153Ter	stop gained	-	NC_000004.12:g.156810875C>A	NCI-TCGA
rs748127729	p.Glu153Gln	missense variant	-	NC_000004.12:g.156810875C>G	ExAC,TOPMed,gnomAD
rs780089507	p.Pro154Leu	missense variant	-	NC_000004.12:g.156810871G>A	ExAC,gnomAD
rs750641386	p.Ile158Met	missense variant	-	NC_000004.12:g.156810858G>C	ExAC,gnomAD
rs758535039	p.Ile158Leu	missense variant	-	NC_000004.12:g.156810860T>G	ExAC,gnomAD
rs1417814417	p.His159Arg	missense variant	-	NC_000004.12:g.156810856T>C	gnomAD
rs765374743	p.Ile162Val	missense variant	-	NC_000004.12:g.156810848T>C	ExAC,TOPMed,gnomAD
rs757431261	p.Ile162Thr	missense variant	-	NC_000004.12:g.156810847A>G	ExAC,gnomAD
rs1473687179	p.Val163Ile	missense variant	-	NC_000004.12:g.156810845C>T	gnomAD
rs1303677965	p.Met164Thr	missense variant	-	NC_000004.12:g.156810841A>G	TOPMed
rs1433925119	p.Met164Val	missense variant	-	NC_000004.12:g.156810842T>C	TOPMed
rs1030602867	p.Pro165Thr	missense variant	-	NC_000004.12:g.156810839G>T	TOPMed,gnomAD
rs1476617514	p.Gln166Arg	missense variant	-	NC_000004.12:g.156772892T>C	TOPMed,gnomAD
rs966748227	p.Thr168Ala	missense variant	-	NC_000004.12:g.156772887T>C	TOPMed
rs1217287477	p.Thr168Ile	missense variant	-	NC_000004.12:g.156772886G>A	gnomAD
rs769629986	p.Ala170Ser	missense variant	-	NC_000004.12:g.156772881C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala170Asp	missense variant	-	NC_000004.12:g.156772880G>T	NCI-TCGA
rs1223046493	p.Val171Leu	missense variant	-	NC_000004.12:g.156772878C>G	gnomAD
NCI-TCGA novel	p.Pro173Thr	missense variant	-	NC_000004.12:g.156772872G>T	NCI-TCGA
rs761532550	p.Pro173Ser	missense variant	-	NC_000004.12:g.156772872G>A	ExAC,gnomAD
rs1021050969	p.Pro177Thr	missense variant	-	NC_000004.12:g.156772860G>T	TOPMed
rs140044447	p.Pro178Ala	missense variant	-	NC_000004.12:g.156772857G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1428212	p.Pro178LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156772856G>-	NCI-TCGA Cosmic
rs1420357324	p.Ala180Gly	missense variant	-	NC_000004.12:g.156772850G>C	gnomAD
rs779015452	p.Ala180Thr	missense variant	-	NC_000004.12:g.156772851C>T	ExAC,TOPMed,gnomAD
rs1420357324	p.Ala180Val	missense variant	-	NC_000004.12:g.156772850G>A	gnomAD
rs901467319	p.Asp184Gly	missense variant	-	NC_000004.12:g.156772838T>C	TOPMed
rs749512195	p.Asn187Ser	missense variant	-	NC_000004.12:g.156772829T>C	ExAC,TOPMed,gnomAD
rs1414901982	p.Asn188Lys	missense variant	-	NC_000004.12:g.156772825A>T	gnomAD
rs1264111872	p.Ile190Val	missense variant	-	NC_000004.12:g.156772821T>C	gnomAD
rs777922904	p.Thr191Ala	missense variant	-	NC_000004.12:g.156772818T>C	ExAC,gnomAD
rs1471582831	p.Ser194Ile	missense variant	-	NC_000004.12:g.156772808C>A	TOPMed,gnomAD
rs756407673	p.Ser194Arg	missense variant	-	NC_000004.12:g.156772807A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr195Ile	missense variant	-	NC_000004.12:g.156772805G>A	NCI-TCGA
rs1193819404	p.Leu196Val	missense variant	-	NC_000004.12:g.156772803A>C	gnomAD
COSM3601320	p.Glu197Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772800C>T	NCI-TCGA Cosmic
COSM460660	p.Asp198Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772797C>T	NCI-TCGA Cosmic
COSM3601319	p.Leu199Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772793A>G	NCI-TCGA Cosmic
rs1041162351	p.Arg201Ter	stop gained	-	NC_000004.12:g.156772788G>A	TOPMed,gnomAD
rs375990881	p.Arg201Gln	missense variant	-	NC_000004.12:g.156772787C>T	ESP,ExAC,TOPMed,gnomAD
COSM733346	p.Arg201Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772788G>C	NCI-TCGA Cosmic
rs1253166666	p.Leu203Ile	missense variant	-	NC_000004.12:g.156772782G>T	gnomAD
COSM3601318	p.Arg207Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772769C>T	NCI-TCGA Cosmic
rs373950792	p.Trp208Arg	missense variant	-	NC_000004.12:g.156772767A>G	ESP,ExAC,gnomAD
rs765903830	p.Gln209Lys	missense variant	-	NC_000004.12:g.156772764G>T	ExAC,gnomAD
rs749956577	p.Gln209His	missense variant	-	NC_000004.12:g.156772762C>A	ExAC,gnomAD
rs1292868915	p.Leu212Val	missense variant	-	NC_000004.12:g.156772755A>C	gnomAD
rs895227114	p.Glu213Gly	missense variant	-	NC_000004.12:g.156772751T>C	gnomAD
rs764741287	p.Glu213Lys	missense variant	-	NC_000004.12:g.156772752C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp214Asn	missense variant	-	NC_000004.12:g.156772749C>T	NCI-TCGA
COSM4123060	p.Tyr216His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772743A>G	NCI-TCGA Cosmic
rs369762309	p.Pro218Leu	missense variant	-	NC_000004.12:g.156772736G>A	ESP,ExAC,gnomAD
rs1453592557	p.Pro218Ser	missense variant	-	NC_000004.12:g.156772737G>A	gnomAD
rs907608501	p.Trp220Arg	missense variant	-	NC_000004.12:g.156772731A>T	TOPMed
rs763913754	p.Trp220Ter	stop gained	-	NC_000004.12:g.156772729C>T	ExAC,gnomAD
rs1278553883	p.Gln221His	missense variant	-	NC_000004.12:g.156772726T>G	TOPMed
rs1170946998	p.Gly224Val	missense variant	-	NC_000004.12:g.156772718C>A	gnomAD
rs375215057	p.Gly224Ser	missense variant	-	NC_000004.12:g.156772719C>T	ESP,ExAC,gnomAD
rs199562156	p.Phe227Leu	missense variant	-	NC_000004.12:g.156772708A>T	1000Genomes,ExAC,gnomAD
rs371889486	p.Phe229Ser	missense variant	-	NC_000004.12:g.156772703A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe229Cys	missense variant	-	NC_000004.12:g.156772703A>C	NCI-TCGA
rs1217035827	p.Ser233Tyr	missense variant	-	NC_000004.12:g.156772691G>T	TOPMed
NCI-TCGA novel	p.Arg234Gly	missense variant	-	NC_000004.12:g.156772689T>C	NCI-TCGA
rs760452946	p.Val235Ala	missense variant	-	NC_000004.12:g.156767990A>G	ExAC,gnomAD
rs760452946	p.Val235Glu	missense variant	-	NC_000004.12:g.156767990A>T	ExAC,gnomAD
COSM6166710	p.Val235Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772686C>A	NCI-TCGA Cosmic
rs1199543316	p.Val236Met	missense variant	-	NC_000004.12:g.156767988C>T	gnomAD
NCI-TCGA novel	p.Asp237His	missense variant	-	NC_000004.12:g.156767985C>G	NCI-TCGA
rs1454426122	p.Leu240Phe	missense variant	-	NC_000004.12:g.156767976G>A	TOPMed
rs201389930	p.Leu241Val	missense variant	-	NC_000004.12:g.156767973G>C	1000Genomes,ExAC,gnomAD
rs759551032	p.Glu243Lys	missense variant	-	NC_000004.12:g.156767967C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser249Arg	missense variant	-	NC_000004.12:g.156767947G>T	NCI-TCGA
rs748367828	p.Cys250Arg	missense variant	-	NC_000004.12:g.156767946A>G	ExAC,gnomAD
rs777064864	p.Thr251Ala	missense variant	-	NC_000004.12:g.156767943T>C	ExAC,gnomAD
rs1056838662	p.Arg253Cys	missense variant	-	NC_000004.12:g.156767937G>A	TOPMed
rs769007620	p.Arg253His	missense variant	-	NC_000004.12:g.156767936C>T	ExAC,gnomAD
rs1305304570	p.Phe255Cys	missense variant	-	NC_000004.12:g.156767930A>C	TOPMed
COSM283921	p.Phe255Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767929G>T	NCI-TCGA Cosmic
COSM3974785	p.Val257Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767925C>T	NCI-TCGA Cosmic
rs1176538946	p.Ser258Cys	missense variant	-	NC_000004.12:g.156767921G>C	TOPMed
rs1297244331	p.Ile259Val	missense variant	-	NC_000004.12:g.156767919T>C	gnomAD
rs141820181	p.Glu261Lys	missense variant	-	NC_000004.12:g.156767913C>T	gnomAD
NCI-TCGA novel	p.Arg265Ser	missense variant	-	NC_000004.12:g.156767899T>A	NCI-TCGA
rs138079287	p.Arg265Thr	missense variant	-	NC_000004.12:g.156767900C>G	ESP,ExAC,TOPMed,gnomAD
rs138079287	p.Arg265Lys	missense variant	-	NC_000004.12:g.156767900C>T	ESP,ExAC,TOPMed,gnomAD
rs1446932026	p.Asp267Asn	missense variant	-	NC_000004.12:g.156767895C>T	gnomAD
rs150367476	p.Ile269Leu	missense variant	-	NC_000004.12:g.156767889T>G	ESP,TOPMed
NCI-TCGA novel	p.Leu275Val	missense variant	-	NC_000004.12:g.156767871G>C	NCI-TCGA
NCI-TCGA novel	p.Leu276Met	missense variant	-	NC_000004.12:g.156767868G>T	NCI-TCGA
rs746424459	p.Val277Ile	missense variant	-	NC_000004.12:g.156767865C>T	ExAC,TOPMed,gnomAD
rs778368467	p.Arg279Cys	missense variant	-	NC_000004.12:g.156767859G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys280Tyr	missense variant	-	NC_000004.12:g.156767855C>T	NCI-TCGA
rs753484240	p.Gly281Asp	missense variant	-	NC_000004.12:g.156767852C>T	ExAC,gnomAD
rs756815335	p.Gly281Ser	missense variant	-	NC_000004.12:g.156767853C>T	ExAC,TOPMed,gnomAD
COSM3601314	p.Cys287Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767834C>G	NCI-TCGA Cosmic
rs1454312674	p.Cys291Tyr	missense variant	-	NC_000004.12:g.156767822C>T	TOPMed
rs910605904	p.Asn292His	missense variant	-	NC_000004.12:g.156767820T>G	TOPMed,gnomAD
rs767387050	p.Asn292Ser	missense variant	-	NC_000004.12:g.156767819T>C	ExAC
NCI-TCGA novel	p.Glu293Lys	missense variant	-	NC_000004.12:g.156767817C>T	NCI-TCGA
NCI-TCGA novel	p.Gln295Lys	missense variant	-	NC_000004.12:g.156767811G>T	NCI-TCGA
COSM460661	p.Gln295Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156767811G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys296Phe	missense variant	-	NC_000004.12:g.156767807C>A	NCI-TCGA
rs1347847153	p.Val297Gly	missense variant	-	NC_000004.12:g.156767804A>C	gnomAD
COSM1052561	p.Val297Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767805C>T	NCI-TCGA Cosmic
rs367723244	p.Pro298Arg	missense variant	-	NC_000004.12:g.156767801G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro298Gln	missense variant	-	NC_000004.12:g.156767801G>T	NCI-TCGA
rs1242849892	p.Ser299Arg	missense variant	-	NC_000004.12:g.156767797G>T	gnomAD
rs1430978881	p.Ser299Gly	missense variant	-	NC_000004.12:g.156767799T>C	TOPMed
rs1334335568	p.Lys300Asn	missense variant	-	NC_000004.12:g.156767794T>A	gnomAD
NCI-TCGA novel	p.Lys300Asn	missense variant	-	NC_000004.12:g.156767794T>G	NCI-TCGA
COSM4123059	p.Val301Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767792A>G	NCI-TCGA Cosmic
rs1271609281	p.Lys303Thr	missense variant	-	NC_000004.12:g.156767786T>G	TOPMed
NCI-TCGA novel	p.Lys304AsnPheSerTerUnk	frameshift	-	NC_000004.12:g.156767782T>-	NCI-TCGA
rs765404800	p.Tyr305Ser	missense variant	-	NC_000004.12:g.156767780T>G	ExAC,gnomAD
NCI-TCGA novel	p.His306Tyr	missense variant	-	NC_000004.12:g.156767778G>A	NCI-TCGA
rs776866706	p.Glu307Lys	missense variant	-	NC_000004.12:g.156767775C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu307Ala	missense variant	-	NC_000004.12:g.156767774T>G	NCI-TCGA
NCI-TCGA novel	p.Glu307Gln	missense variant	-	NC_000004.12:g.156767775C>G	NCI-TCGA
NCI-TCGA novel	p.Glu307Ter	stop gained	-	NC_000004.12:g.156767775C>A	NCI-TCGA
rs964340726	p.Gln310Arg	missense variant	-	NC_000004.12:g.156763199T>C	TOPMed
rs764271106	p.Pro313Arg	missense variant	-	NC_000004.12:g.156763190G>C	ExAC,TOPMed,gnomAD
rs760783059	p.Thr315Ala	missense variant	-	NC_000004.12:g.156763185T>C	ExAC,TOPMed,gnomAD
rs1455196232	p.Gly316Ser	missense variant	-	NC_000004.12:g.156763182C>T	TOPMed
COSM4123058	p.Gly316Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156763181C>T	NCI-TCGA Cosmic
rs1232243537	p.His321Gln	missense variant	-	NC_000004.12:g.156763165G>C	gnomAD
NCI-TCGA novel	p.His321Gln	missense variant	-	NC_000004.12:g.156763165G>T	NCI-TCGA
NCI-TCGA novel	p.Lys322Arg	missense variant	-	NC_000004.12:g.156763163T>C	NCI-TCGA
rs1271394599	p.Thr325Ser	missense variant	-	NC_000004.12:g.156763155T>A	gnomAD
COSM1052560	p.Thr325Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156763154G>C	NCI-TCGA Cosmic
rs777243935	p.Asp326Ala	missense variant	-	NC_000004.12:g.156763151T>G	ExAC,gnomAD
rs150603208	p.Asp326Asn	missense variant	-	NC_000004.12:g.156763152C>T	1000Genomes,TOPMed,gnomAD
rs538854061	p.Val327Leu	missense variant	-	NC_000004.12:g.156763149C>A	gnomAD
rs538854061	p.Val327Met	missense variant	-	NC_000004.12:g.156763149C>T	gnomAD
rs1324137195	p.Ala328Val	missense variant	-	NC_000004.12:g.156763145G>A	gnomAD
rs1474450244	p.Glu333Val	missense variant	-	NC_000004.12:g.156763130T>A	gnomAD
NCI-TCGA novel	p.Glu333Gly	missense variant	-	NC_000004.12:g.156763130T>C	NCI-TCGA
rs754603971	p.Arg340Thr	missense variant	-	NC_000004.12:g.156763109C>G	ExAC,gnomAD
rs1274387776	p.Ser342Asn	missense variant	-	NC_000004.12:g.156763103C>T	TOPMed
rs1457898893	p.Gly344Glu	missense variant	-	NC_000004.12:g.156763097C>T	gnomAD
rs750432240	p.Gly345Glu	missense variant	-	NC_000004.12:g.156763094C>T	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007133	Carcinoma, Papillary	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	BEFREE
C0013568	Ecthyma	disease	BEFREE
C0016059	Fibrosis	phenotype	LHGDN
C0017658	Glomerulonephritis	disease	BEFREE
C0017661	IGA Glomerulonephritis	disease	BEFREE
C0017665	Membranous glomerulonephritis	disease	BEFREE
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0025149	Medulloblastoma	disease	LHGDN
C0025202	melanoma	disease	BEFREE
C0025500	Mesothelioma	disease	CTD_human
C0027721	Lipoid nephrosis	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0086025	Codependency	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206633	Angiomyolipoma	disease	BEFREE
C0206669	Hepatocellular Adenoma	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0241961	Angiomyolipoma of kidney	disease	BEFREE
C0268731	Renal glomerular disease	group	BEFREE
C0392885	High density lipoprotein measurement	phenotype	GWASCAT
C0400966	Non-alcoholic Fatty Liver Disease	disease	BEFREE
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0578022	Finding of body mass index	phenotype	GWASCAT;GWASDB
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0751674	Lymphangioleiomyomatosis	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C1305855	Body mass index	phenotype	GWASCAT;GWASDB
C1837218	Cleft palate, isolated	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2711227	Steatohepatitis	disease	BEFREE
C2717961	Thrombotic Microangiopathies	group	BEFREE
C3536893	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005161	platelet-derived growth factor receptor binding	IPI
GO:0005161	platelet-derived growth factor receptor binding	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0042803	protein homodimerization activity	IPI
GO:0070851	growth factor receptor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA
GO:0007417	central nervous system development	TAS
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0008284	positive regulation of cell population proliferation	IBA
GO:0009887	animal organ morphogenesis	IEA
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IBA
GO:0030335	positive regulation of cell migration	IBA
GO:0031954	positive regulation of protein autophosphorylation	IBA
GO:0043406	positive regulation of MAP kinase activity	IBA
GO:0048008	platelet-derived growth factor receptor signaling pathway	IDA
GO:0048008	platelet-derived growth factor receptor signaling pathway	IBA
GO:0048146	positive regulation of fibroblast proliferation	IDA
GO:0048565	digestive tract development	IEA
GO:0048568	embryonic organ development	IEA
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0051781	positive regulation of cell division	IEA
GO:0060348	bone development	IEA
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IBA
GO:0071230	cellular response to amino acid stimulus	IEA
GO:0120162	positive regulation of cold-induced thermogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	TAS
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005634	nucleus	IEA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0005829	cytosol	IDA
GO:0005886	plasma membrane	IDA
GO:0009986	cell surface	IDA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-186797	Signaling by PDGF	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in decreased expression of PDGFC mRNA	26377693
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of PDGFC mRNA	28801915
C577942	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide	2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide results in decreased expression of PDGFC mRNA	26644586
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 [TGFB1 protein results in increased expression of PDGFC mRNA]	25280005
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PDGFC mRNA	19150397
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PDGFC gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of PDGFC mRNA	19770486
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of PDGFC mRNA	23630614
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of PDGFC mRNA	21757418
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PDGFC mRNA	16483693
D000068180	Aripiprazole	[Aripiprazole co-treated with Ozone] results in decreased expression of PDGFC mRNA	31476115
D001151	Arsenic	Arsenic affects the expression of PDGFC protein	24675094
C015001	arsenite	arsenite results in increased methylation of PDGFC promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PDGFC mRNA	20106945; 21632981; 22316170; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PDGFC mRNA	20713471; 22228805;
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of PDGFC mRNA	30616060
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PDGFC mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PDGFC mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of PDGFC mRNA	24586524
C006780	bisphenol A	bisphenol A results in increased expression of PDGFC mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PDGFC mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F results in increased expression of PDGFC mRNA	30951980
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in decreased expression of PDGFC mRNA	25270620
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of PDGFC mRNA	18974090
D002220	Carbamazepine	Carbamazepine affects the expression of PDGFC mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PDGFC mRNA	17484886
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PDGFC	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PDGFC gene	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFC mRNA	20548288; 20938992;
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of PDGFC mRNA	30690063
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of PDGFC mRNA	28472532
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of PDGFC mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PDGFC mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PDGFC mRNA	24386269
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of PDGFC mRNA	20971185
D003300	Copper	Copper results in increased expression of PDGFC mRNA	30556269
D003471	Cuprizone	Cuprizone results in increased expression of PDGFC mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in decreased expression of PDGFC mRNA	27989131
D003907	Dexamethasone	Dexamethasone results in increased expression of PDGFC mRNA	21041162; 22733784;
D004026	Dieldrin	Dieldrin results in increased expression of PDGFC mRNA	28385952
D004041	Dietary Fats	Dietary Fats results in decreased expression of PDGFC mRNA	18042831
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PDGFC mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of PDGFC mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PDGFC mRNA	22079256
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of PDGFC mRNA	30165855
D005047	Etoposide	PDGFC protein affects the susceptibility to Etoposide	16217747
D017313	Fenretinide	Fenretinide results in decreased expression of PDGFC mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of PDGFC mRNA	28973697
D005485	Flutamide	Flutamide results in increased expression of PDGFC mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PDGFC	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PDGFC gene	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFC mRNA	20548288; 20938992;
C039281	furan	furan results in increased methylation of PDGFC gene	22079235
C568713	GSK1210151A	GSK1210151A inhibits the reaction [TGFB1 protein results in increased expression of PDGFC mRNA]	26644586
C568713	GSK1210151A	GSK1210151A results in decreased expression of PDGFC mRNA	26644586
C492448	ICG 001	ICG 001 results in increased expression of PDGFC mRNA	26191083
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of PDGFC mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of PDGFC mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [TGFB1 protein results in increased expression of PDGFC mRNA]	26644586
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PDGFC mRNA	24796395; 26644586;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PDGFC mRNA	26644586
C008261	lead acetate	lead acetate results in increased expression of PDGFC mRNA	22609695
C533894	LG 100815	LG 100815 results in increased expression of PDGFC mRNA	16951191
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of PDGFC mRNA	23306164
C025340	manganese chloride	manganese chloride results in decreased expression of PDGFC mRNA	28801915
C042720	mercuric bromide	mercuric bromide results in increased expression of PDGFC mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PDGFC	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PDGFC gene	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PDGFC mRNA	20548288; 20938992;
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PDGFC mRNA	23649840
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of PDGFC mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of PDGFC mRNA	25554681
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of PDGFC mRNA	20971185
C558013	NSC 689534	NSC 689534 results in increased expression of PDGFC mRNA	20971185
C062198	octa-2,4,6-trienoic acid	octa-2,4,6-trienoic acid results in increased expression of PDGFC mRNA	16951191
D010126	Ozone	[Aripiprazole co-treated with Ozone] results in decreased expression of PDGFC mRNA	31476115
D010126	Ozone	Ozone results in decreased expression of PDGFC mRNA	31476115
D000073878	Palm Oil	Palm Oil results in decreased expression of PDGFC mRNA	18042831
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PDGFC mRNA	26272509
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid affects the expression of PDGFC mRNA	19429403
C023036	perfluorooctanoic acid	perfluorooctanoic acid affects the expression of PDGFC mRNA	19429403
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of PDGFC mRNA]	19482888
D010634	Phenobarbital	Phenobarbital affects the expression of PDGFC mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of PDGFC mRNA	19270015
D010634	Phenobarbital	Phenobarbital results in increased expression of PDGFC mRNA	19482888
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of PDGFC mRNA	26272509
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PDGFC mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of PDGFC mRNA	22079256; 22714537;
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PDGFC mRNA	23608068
D011441	Propylthiouracil	Propylthiouracil results in increased expression of PDGFC mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of PDGFC mRNA	21632981
D012402	Rotenone	Rotenone results in increased expression of PDGFC mRNA	28374803
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of PDGFC mRNA	21427059
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of PDGFC mRNA	25895662
D018030	Silver Compounds	Silver Compounds results in decreased expression of PDGFC mRNA	29703973
C009277	sodium arsenate	sodium arsenate results in increased expression of PDGFC mRNA	21795629
D012999	Soman	Soman results in increased expression of PDGFC mRNA	19281266
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PDGFC mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PDGFC mRNA	28922406
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PDGFC mRNA	21215274
D013750	Tetrachloroethylene	Tetrachloroethylene results in increased expression of PDGFC mRNA	28973375
D013853	Thioacetamide	Thioacetamide results in increased expression of PDGFC mRNA	23411599
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PDGFC mRNA	28065790
D019772	Topotecan	PDGFC protein affects the susceptibility to Topotecan	16217747
D014212	Tretinoin	Tretinoin results in increased expression of PDGFC mRNA	21934132
D014212	Tretinoin	Tretinoin results in decreased expression of PDGFC protein	16956736
D014212	Tretinoin	Tretinoin results in increased expression of PDGFC mRNA	17066417
D014212	Tretinoin	Tretinoin results in increased expression of PDGFC protein	17066417
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of PDGFC mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in increased expression of PDGFC mRNA	30510588
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PDGFC mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PDGFC mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of PDGFC gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of PDGFC mRNA	19101580; 23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased expression of PDGFC mRNA	21427059
D014638	Vanadates	Vanadates results in increased expression of PDGFC mRNA	22714537
C066075	vanadium pentoxide	vanadium pentoxide results in increased expression of PDGFC mRNA	17134509
D000077337	Vorinostat	Vorinostat results in increased expression of PDGFC mRNA	26272509
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of PDGFC mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0165	Cleavage on pair of basic residues
KW-0963	Cytoplasm
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0472	Membrane
KW-0497	Mitogen
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR000859	CUB_dom
IPR029034	Cystine-knot_cytokine
IPR029817	PDGF-C
IPR000072	PDGF/VEGF_dom
IPR035914	Sperma_CUB_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS01180	CUB
PS50278	PDGF_2

Pfam

Pfam ID	Pfam Term
PF00431	CUB
PF00341	PDGF

Gene: PDGFC

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

There is no related protein structure for this gene.

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