CleftGeneDB-Search

Gene: ACVR2A

Basic information

Tag	Content
Uniprot ID	P27037; B2RAB8; B4DWQ2; D3DP85; Q53TH4; Q6NWV2; Q92474;
Entrez ID	92
Genbank protein ID	BAA06548.1; AAA35504.1; EAX11562.1; AAH67418.1; BAG63114.1; CAA44839.1; AAH67417.1; AAX93050.1; BAG36815.1; EAX11561.1; AAH69707.1; CAA44245.1;
Genbank nucleotide ID	NM_001278579.1; NM_001616.4; NM_001278580.1;
Ensembl protein ID	ENSP00000241416; ENSP00000384338; ENSP00000439988;
Ensembl nucleotide ID	ENSG00000121989
Gene name	Activin receptor type-2A
Gene symbol	ACVR2A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity).
Sequence	MGAAAKLAFA VFLISCSSGA ILGRSETQEC LFFNANWEKD RTNQTGVEPC YGDKDKRRHC 60 FATWKNISGS IEIVKQGCWL DDINCYDRTD CVEKKDSPEV YFCCCEGNMC NEKFSYFPEM 120 EVTQPTSNPV TPKPPYYNIL LYSLVPLMLI AGIVICAFWV YRHHKMAYPP VLVPTQDPGP 180 PPPSPLLGLK PLQLLEVKAR GRFGCVWKAQ LLNEYVAVKI FPIQDKQSWQ NEYEVYSLPG 240 MKHENILQFI GAEKRGTSVD VDLWLITAFH EKGSLSDFLK ANVVSWNELC HIAETMARGL 300 AYLHEDIPGL KDGHKPAISH RDIKSKNVLL KNNLTACIAD FGLALKFEAG KSAGDTHGQV 360 GTRRYMAPEV LEGAINFQRD AFLRIDMYAM GLVLWELASR CTAADGPVDE YMLPFEEEIG 420 QHPSLEDMQE VVVHKKKRPV LRDYWQKHAG MAMLCETIEE CWDHDAEARL SAGCVGERIT 480 QMQRLTNIIT TEDIVTVVTM VTNVDFPPKE SSL 513

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
3Q4T
3SOC
4ASX
5NH3
3SOC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ACVR2A	281598	Q28043		Bos taurus	Prediction	More>>
1:1 ortholog	ACVR2A	476140	F1PKQ5		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ACVR2A		A0A452EGK7		Capra hircus	Prediction	More>>
1:1 ortholog	ACVR2A	100049823	F7CD19		Equus caballus	Prediction	More>>
1:1 ortholog	ACVR2A	92	P27037		Homo sapiens	Prediction	More>>
1:1 ortholog	Acvr2a	11480	P27038	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ACVR2A	459646	K7ALD8		Pan troglodytes	Prediction	More>>
1:1 ortholog	ACVR2A		F1S0H6		Sus scrofa	Prediction	More>>
1:1 ortholog	Acvr2a		F1MA24		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs769549574	p.Ala3Val	missense variant	-	NC_000002.12:g.147845160C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala3SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147845154_147845155insG	NCI-TCGA
rs533676933	p.Ala4Pro	missense variant	-	NC_000002.12:g.147845162G>C	1000Genomes,ExAC,gnomAD
rs774979181	p.Lys6Glu	missense variant	-	NC_000002.12:g.147845168A>G	ExAC,gnomAD
COSM4085313	p.Leu7Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147845172T>A	NCI-TCGA Cosmic
rs760028250	p.Ala8Ser	missense variant	-	NC_000002.12:g.147845174G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala8GlyPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147845175C>-	NCI-TCGA
COSM1007180	p.Phe9Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147845177T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe9Val	missense variant	-	NC_000002.12:g.147845177T>G	NCI-TCGA
NCI-TCGA novel	p.Phe9Leu	missense variant	-	NC_000002.12:g.147845179T>G	NCI-TCGA
rs1391719655	p.Ala10Thr	missense variant	-	NC_000002.12:g.147845180G>A	TOPMed
NCI-TCGA novel	p.Val11Asp	missense variant	-	NC_000002.12:g.147845184T>A	NCI-TCGA
rs752749821	p.Val11Ile	missense variant	-	NC_000002.12:g.147845183G>A	ExAC,gnomAD
rs1389950555	p.Phe12Val	missense variant	-	NC_000002.12:g.147845186T>G	TOPMed
COSM3783338	p.Leu13Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147845189C>G	NCI-TCGA Cosmic
rs1186296882	p.Ile14Thr	missense variant	-	NC_000002.12:g.147845193T>C	gnomAD
rs375035474	p.Ser17Tyr	missense variant	-	NC_000002.12:g.147845202C>A	ESP,ExAC,gnomAD
rs375035474	p.Ser17Cys	missense variant	-	NC_000002.12:g.147845202C>G	ESP,ExAC,gnomAD
COSM3971602	p.Ala20Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896304C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala20Ser	missense variant	-	NC_000002.12:g.147896303G>T	NCI-TCGA
rs755742197	p.Ile21Met	missense variant	-	NC_000002.12:g.147896308A>G	ExAC,gnomAD
rs752622036	p.Ile21Thr	missense variant	-	NC_000002.12:g.147896307T>C	ExAC,TOPMed,gnomAD
rs777144025	p.Leu22Ile	missense variant	-	NC_000002.12:g.147896309C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu22Val	missense variant	-	NC_000002.12:g.147896309C>G	NCI-TCGA
rs1036539489	p.Gly23Asp	missense variant	-	NC_000002.12:g.147896313G>A	TOPMed
NCI-TCGA novel	p.Ser25Leu	missense variant	-	NC_000002.12:g.147896319C>T	NCI-TCGA
rs749005993	p.Thr27Ile	missense variant	-	NC_000002.12:g.147896325C>T	ExAC,gnomAD
COSM716486	p.Gln28Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147896327C>T	NCI-TCGA Cosmic
rs1453883828	p.Glu29Gln	missense variant	-	NC_000002.12:g.147896330G>C	gnomAD
rs1246268853	p.Leu31Phe	missense variant	-	NC_000002.12:g.147896336C>T	gnomAD
rs1246268853	p.Leu31Val	missense variant	-	NC_000002.12:g.147896336C>G	gnomAD
rs778576056	p.Leu31Arg	missense variant	-	NC_000002.12:g.147896337T>G	ExAC,gnomAD
COSM1305683	p.Phe32Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896339T>G	NCI-TCGA Cosmic
rs746261161	p.Ala35Thr	missense variant	-	NC_000002.12:g.147896348G>A	ExAC,gnomAD
rs930920460	p.Asp40Glu	missense variant	-	NC_000002.12:g.147896365C>A	TOPMed
rs1413549279	p.Thr42Ile	missense variant	-	NC_000002.12:g.147896370C>T	TOPMed
COSM5098432	p.Gln44Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147896375C>T	NCI-TCGA Cosmic
rs775992985	p.Thr45Ser	missense variant	-	NC_000002.12:g.147896379C>G	ExAC,TOPMed,gnomAD
rs768851334	p.Glu48Asp	missense variant	-	NC_000002.12:g.147896389A>T	ExAC,gnomAD
rs776542712	p.Pro49Leu	missense variant	-	NC_000002.12:g.147896391C>T	ExAC,TOPMed,gnomAD
rs1436669424	p.Asp53Glu	missense variant	-	NC_000002.12:g.147896404C>A	gnomAD
NCI-TCGA novel	p.Lys56SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147896411_147896412insGC	NCI-TCGA
COSM1399821	p.Arg57Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896414C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg57LeuPheSerTerUnk	stop gained	-	NC_000002.12:g.147896412_147896413insACTTTAGGTATTCCTAAAGTGTCAGTAATTC	NCI-TCGA
NCI-TCGA novel	p.Arg57Gln	missense variant	-	NC_000002.12:g.147896415G>A	NCI-TCGA
COSM4942035	p.Arg58Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896418G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg58GlyPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147896415G>-	NCI-TCGA
rs1228095992	p.Ala62Val	missense variant	-	NC_000002.12:g.147896430C>T	gnomAD
COSM4839117	p.Lys65Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896440G>T	NCI-TCGA Cosmic
rs1426593767	p.Ile71Val	missense variant	-	NC_000002.12:g.147896456A>G	gnomAD
rs759415672	p.Ile71Thr	missense variant	-	NC_000002.12:g.147896457T>C	ExAC,gnomAD
rs1478720723	p.Ile73Val	missense variant	-	NC_000002.12:g.147896462A>G	gnomAD
COSM3567400	p.Val74Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896466T>G	NCI-TCGA Cosmic
rs1451305276	p.Val74Leu	missense variant	-	NC_000002.12:g.147896465G>C	TOPMed
COSM3425264	p.Gly77Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896475G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp79Cys	missense variant	-	NC_000002.12:g.147896482G>T	NCI-TCGA
rs1248849635	p.Ile83Val	missense variant	-	NC_000002.12:g.147896492A>G	gnomAD
NCI-TCGA novel	p.Cys85Gly	missense variant	-	NC_000002.12:g.147896498T>G	NCI-TCGA
NCI-TCGA novel	p.Cys85Ter	stop gained	-	NC_000002.12:g.147896500C>A	NCI-TCGA
NCI-TCGA novel	p.Arg88Ser	missense variant	-	NC_000002.12:g.147899458G>C	NCI-TCGA
rs942825733	p.Asp90Asn	missense variant	-	NC_000002.12:g.147899462G>A	TOPMed,gnomAD
rs1415374116	p.Cys91Ser	missense variant	-	NC_000002.12:g.147899465T>A	gnomAD
rs1041225697	p.Val92Ile	missense variant	-	NC_000002.12:g.147899468G>A	TOPMed
rs1354104220	p.Glu93Gly	missense variant	-	NC_000002.12:g.147899472A>G	gnomAD
NCI-TCGA novel	p.Glu93Asp	missense variant	-	NC_000002.12:g.147899473A>T	NCI-TCGA
COSM4659207	p.Asp96ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899471_147899472insA	NCI-TCGA Cosmic
COSM1399823	p.Asp96ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899472A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp96Tyr	missense variant	-	NC_000002.12:g.147899480G>T	NCI-TCGA
rs1309655016	p.Asp96Asn	missense variant	-	NC_000002.12:g.147899480G>A	gnomAD
rs756733502	p.Ser97Gly	missense variant	-	NC_000002.12:g.147899483A>G	ExAC
rs1289533816	p.Ser97Asn	missense variant	-	NC_000002.12:g.147899484G>A	gnomAD
COSM5192837	p.Cys103ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899497T>-	NCI-TCGA Cosmic
rs758019384	p.Asn108Ser	missense variant	-	NC_000002.12:g.147899517A>G	ExAC,TOPMed,gnomAD
rs1331334248	p.Met109Val	missense variant	-	NC_000002.12:g.147899519A>G	TOPMed
NCI-TCGA novel	p.Asn111Asp	missense variant	-	NC_000002.12:g.147899525A>G	NCI-TCGA
COSM1177261	p.Glu112Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899528G>T	NCI-TCGA Cosmic
rs141345586	p.Glu112Gly	missense variant	-	NC_000002.12:g.147899529A>G	ESP,ExAC,TOPMed,gnomAD
rs1483915666	p.Lys113Arg	missense variant	-	NC_000002.12:g.147899532A>G	gnomAD
rs1251021144	p.Ser115Phe	missense variant	-	NC_000002.12:g.147899538C>T	gnomAD
rs140428453	p.Phe117Val	missense variant	-	NC_000002.12:g.147899543T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140428453	p.Phe117Ile	missense variant	-	NC_000002.12:g.147899543T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561369241	p.Glu119Asp	missense variant	-	NC_000002.12:g.147899551G>C	1000Genomes,ExAC,gnomAD
rs1477527129	p.Met120Val	missense variant	-	NC_000002.12:g.147899552A>G	gnomAD
rs773394065	p.Val122Ile	missense variant	-	NC_000002.12:g.147899558G>A	ExAC,gnomAD
COSM4926180	p.Gln124Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899564C>T	NCI-TCGA Cosmic
rs1373961272	p.Gln124His	missense variant	-	NC_000002.12:g.147899566G>C	gnomAD
rs1270181070	p.Pro125Ser	missense variant	-	NC_000002.12:g.147899567C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser127GlnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147899748T>-	NCI-TCGA
COSM3971603	p.Val130Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899758G>A	NCI-TCGA Cosmic
rs1265942251	p.Pro132Thr	missense variant	-	NC_000002.12:g.147899764C>A	gnomAD
rs746092637	p.Pro134Ser	missense variant	-	NC_000002.12:g.147899770C>T	ExAC,gnomAD
rs375337197	p.Leu141Ile	missense variant	-	NC_000002.12:g.147899791C>A	ESP
rs768405906	p.Leu144Phe	missense variant	-	NC_000002.12:g.147899802G>C	ExAC,TOPMed,gnomAD
rs1187478240	p.Val145Met	missense variant	-	NC_000002.12:g.147899803G>A	gnomAD
rs138917994	p.Val145Gly	missense variant	-	NC_000002.12:g.147899804T>G	ESP,ExAC,TOPMed,gnomAD
COSM441199	p.Leu147Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899809C>G	NCI-TCGA Cosmic
rs1245484491	p.Leu147Phe	missense variant	-	NC_000002.12:g.147899809C>T	TOPMed
rs1167587836	p.Met148Val	missense variant	-	NC_000002.12:g.147899812A>G	gnomAD
rs550819828	p.Met148Thr	missense variant	-	NC_000002.12:g.147899813T>C	1000Genomes,TOPMed,gnomAD
rs761709451	p.Met148Ile	missense variant	-	NC_000002.12:g.147899814G>T	ExAC,TOPMed,gnomAD
rs769746262	p.Leu149Phe	missense variant	-	NC_000002.12:g.147899817A>T	ExAC,TOPMed,gnomAD
COSM3567403	p.Ile150Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899820T>G	NCI-TCGA Cosmic
rs200433753	p.Ala151Val	missense variant	-	NC_000002.12:g.147899822C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745880788	p.Val154Ile	missense variant	-	NC_000002.12:g.147899830G>A	ExAC,TOPMed,gnomAD
rs374966134	p.Ala157Val	missense variant	-	NC_000002.12:g.147899840C>T	ESP,TOPMed,gnomAD
rs1313394494	p.Val160Leu	missense variant	-	NC_000002.12:g.147899848G>T	gnomAD
NCI-TCGA novel	p.Val160CysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147899846G>-	NCI-TCGA
rs146383418	p.Arg162Gly	missense variant	-	NC_000002.12:g.147899854A>G	ESP,ExAC,TOPMed,gnomAD
rs369418751	p.Arg162Lys	missense variant	-	NC_000002.12:g.147899855G>A	ESP,ExAC,TOPMed,gnomAD
rs1238434692	p.His164Arg	missense variant	-	NC_000002.12:g.147899861A>G	TOPMed
rs958769987	p.Lys165Gln	missense variant	-	NC_000002.12:g.147899863A>C	TOPMed
rs536573434	p.Met166Ile	missense variant	-	NC_000002.12:g.147899868G>A	1000Genomes,ExAC,gnomAD
COSM4407995	p.Tyr168Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899874C>A	NCI-TCGA Cosmic
COSM4407992	p.Pro170Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899878C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro170His	missense variant	-	NC_000002.12:g.147899879C>A	NCI-TCGA
rs1393122963	p.Val171Glu	missense variant	-	NC_000002.12:g.147899882T>A	gnomAD
rs1485120488	p.Val173Ile	missense variant	-	NC_000002.12:g.147899887G>A	gnomAD
NCI-TCGA novel	p.Pro174Ala	missense variant	-	NC_000002.12:g.147899890C>G	NCI-TCGA
COSM475983	p.Pro178Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915194C>T	NCI-TCGA Cosmic
rs1015293914	p.Pro181Thr	missense variant	-	NC_000002.12:g.147915203C>A	TOPMed,gnomAD
rs201389916	p.Pro183Ser	missense variant	-	NC_000002.12:g.147915209C>T	1000Genomes,ExAC,gnomAD
COSM716485	p.Leu186Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915218T>A	NCI-TCGA Cosmic
rs1430779701	p.Leu187Arg	missense variant	-	NC_000002.12:g.147915222T>G	TOPMed
COSM3836949	p.Pro191Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915234C>T	NCI-TCGA Cosmic
rs1187891286	p.Gln193His	missense variant	-	NC_000002.12:g.147915241G>T	TOPMed
rs774344717	p.Ala199Pro	missense variant	-	NC_000002.12:g.147915257G>C	gnomAD
NCI-TCGA novel	p.Gly201Glu	missense variant	-	NC_000002.12:g.147915264G>A	NCI-TCGA
rs747180464	p.Arg202Thr	missense variant	-	NC_000002.12:g.147915267G>C	ExAC
rs777511018	p.Cys205Ser	missense variant	-	NC_000002.12:g.147915275T>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp207LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147915281_147915284TGGA>-	NCI-TCGA
COSM6154268	p.Gln210Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915291A>T	NCI-TCGA Cosmic
rs770920471	p.Glu214Lys	missense variant	-	NC_000002.12:g.147915302G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu214Ter	stop gained	-	NC_000002.12:g.147915302G>T	NCI-TCGA
rs770920471	p.Glu214Lys	missense variant	-	NC_000002.12:g.147915302G>A	ExAC,TOPMed,gnomAD
rs774111875	p.Val216Met	missense variant	-	NC_000002.12:g.147915308G>A	ExAC
rs1489499469	p.Ile223Val	missense variant	-	NC_000002.12:g.147915329A>G	gnomAD
rs1194558703	p.Ile223Met	missense variant	-	NC_000002.12:g.147915331A>G	gnomAD
rs775338527	p.Gln224Arg	missense variant	-	NC_000002.12:g.147915333A>G	ExAC,gnomAD
rs1318556202	p.Asp225Gly	missense variant	-	NC_000002.12:g.147917284A>G	gnomAD
NCI-TCGA novel	p.Asp225Glu	missense variant	-	NC_000002.12:g.147917285C>A	NCI-TCGA
rs771677111	p.Lys226Arg	missense variant	-	NC_000002.12:g.147917287A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys226SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147917284_147917287ACAA>-	NCI-TCGA
COSM278610	p.Trp229Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147917297G>A	NCI-TCGA Cosmic
COSM3425265	p.Glu232Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147917304G>T	NCI-TCGA Cosmic
rs1381913043	p.Glu234Lys	missense variant	-	NC_000002.12:g.147917310G>A	NCI-TCGA Cosmic
rs768445996	p.Glu234Asp	missense variant	-	NC_000002.12:g.147917312A>C	ExAC,TOPMed,gnomAD
rs1381913043	p.Glu234Lys	missense variant	-	NC_000002.12:g.147917310G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly240Glu	missense variant	-	NC_000002.12:g.147917329G>A	NCI-TCGA
NCI-TCGA novel	p.His243Leu	missense variant	-	NC_000002.12:g.147917338A>T	NCI-TCGA
COSM4846742	p.Glu244Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147917340G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly251Asp	missense variant	-	NC_000002.12:g.147917362G>A	NCI-TCGA
NCI-TCGA novel	p.Gly251Arg	missense variant	-	NC_000002.12:g.147917361G>C	NCI-TCGA
rs1158140322	p.Lys254Ile	missense variant	-	NC_000002.12:g.147917371A>T	gnomAD
COSM1399827	p.Arg255Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147917373C>T	NCI-TCGA Cosmic
rs766492712	p.Arg255Gln	missense variant	-	NC_000002.12:g.147917374G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg255ThrPheSerTerUnk	frameshift	-	NC_000002.12:g.147917367_147917368insA	NCI-TCGA
COSM4085315	p.Gly256Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147917377G>A	NCI-TCGA Cosmic
rs1187138158	p.Thr257Ala	missense variant	-	NC_000002.12:g.147917379A>G	gnomAD
rs34917571	p.Ser258Arg	missense variant	-	NC_000002.12:g.147917384T>G	UniProt,dbSNP
VAR_032809	p.Ser258Arg	missense variant	-	NC_000002.12:g.147917384T>G	UniProt
rs34917571	p.Ser258Arg	missense variant	-	NC_000002.12:g.147917384T>G	ExAC,gnomAD
rs751657945	p.Ser258Gly	missense variant	-	NC_000002.12:g.147917382A>G	ExAC,gnomAD
rs767727387	p.Asp260His	missense variant	-	NC_000002.12:g.147917388G>C	ExAC,gnomAD
rs562464467	p.Val261Met	missense variant	-	NC_000002.12:g.147917391G>A	1000Genomes,ExAC,gnomAD
rs562464467	p.Val261Leu	missense variant	-	NC_000002.12:g.147917391G>T	1000Genomes,ExAC,gnomAD
rs1262996267	p.Ala268Thr	missense variant	-	NC_000002.12:g.147917412G>A	TOPMed
rs769352263	p.Gly273Ser	missense variant	-	NC_000002.12:g.147918447G>A	ExAC,gnomAD
COSM1481991	p.Asn282Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918475A>T	NCI-TCGA Cosmic
rs1249286464	p.Val283Met	missense variant	-	NC_000002.12:g.147918477G>A	gnomAD
COSM1007184	p.Glu288Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147918492G>T	NCI-TCGA Cosmic
rs749615583	p.His291Arg	missense variant	-	NC_000002.12:g.147918502A>G	ExAC,gnomAD
rs771224053	p.Ile292Val	missense variant	-	NC_000002.12:g.147918504A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu294Asp	missense variant	-	NC_000002.12:g.147918512A>C	NCI-TCGA
rs1253204877	p.Met296Thr	missense variant	-	NC_000002.12:g.147918517T>C	gnomAD
rs774896692	p.Met296Ile	missense variant	-	NC_000002.12:g.147918518G>T	ExAC,gnomAD
rs760032206	p.Ala297Val	missense variant	-	NC_000002.12:g.147918520C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala297Thr	missense variant	-	NC_000002.12:g.147918519G>A	NCI-TCGA
COSM1007186	p.Gly299Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918525G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu303Ser	missense variant	-	NC_000002.12:g.147918538T>C	NCI-TCGA
rs760761327	p.His304Gln	missense variant	-	NC_000002.12:g.147918542T>G	ExAC
rs764255410	p.Asp306Asn	missense variant	-	NC_000002.12:g.147918546G>A	ExAC
rs764255410	p.Asp306Asn	missense variant	-	NC_000002.12:g.147918546G>A	UniProt,dbSNP
VAR_032810	p.Asp306Asn	missense variant	-	NC_000002.12:g.147918546G>A	UniProt
rs1268740838	p.Ile307Val	missense variant	-	NC_000002.12:g.147918549A>G	gnomAD
COSM441200	p.Pro308Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918553C>G	NCI-TCGA Cosmic
rs762855250	p.Pro308His	missense variant	-	NC_000002.12:g.147918553C>A	ExAC
rs751618496	p.Gly309Ala	missense variant	-	NC_000002.12:g.147918556G>C	ExAC
rs752176792	p.Leu310Gln	missense variant	-	NC_000002.12:g.147918559T>A	ExAC,gnomAD
rs754936786	p.Leu310Ile	missense variant	-	NC_000002.12:g.147918558C>A	ExAC,gnomAD
rs34582946	p.Lys311Asn	missense variant	-	NC_000002.12:g.147918563A>T	gnomAD
rs777299662	p.Asp312Val	missense variant	-	NC_000002.12:g.147918565A>T	ExAC
rs757686102	p.Asp312Glu	missense variant	-	NC_000002.12:g.147918566T>G	ExAC,TOPMed,gnomAD
rs777299662	p.Asp312Ala	missense variant	-	NC_000002.12:g.147918565A>C	ExAC
rs755581998	p.Asp312Asn	missense variant	-	NC_000002.12:g.147918564G>A	ExAC
rs746422676	p.Gly313Val	missense variant	-	NC_000002.12:g.147918568G>T	ExAC,gnomAD
rs746422676	p.Gly313Ala	missense variant	-	NC_000002.12:g.147918568G>C	ExAC,gnomAD
rs779215494	p.Gly313Cys	missense variant	-	NC_000002.12:g.147918567G>T	ExAC
rs746422676	p.Gly313Asp	missense variant	-	NC_000002.12:g.147918568G>A	ExAC,gnomAD
rs776779872	p.His314Asn	missense variant	-	NC_000002.12:g.147918570C>A	ExAC
rs78013999	p.His314Gln	missense variant	-	NC_000002.12:g.147918572C>A	ExAC,gnomAD
NCI-TCGA novel	p.His314LeuPheSerTerUnk	stop gained	-	NC_000002.12:g.147918570_147918571insTGGTGGCACTCAGCTAAGTATCTGTTCTGTG	NCI-TCGA
rs776779872	p.His314Tyr	missense variant	-	NC_000002.12:g.147918570C>T	ExAC
rs766319709	p.His314Pro	missense variant	-	NC_000002.12:g.147918571A>C	ExAC,gnomAD
rs766319709	p.His314Arg	missense variant	-	NC_000002.12:g.147918571A>G	ExAC,gnomAD
rs371059184	p.Lys315Asn	missense variant	-	NC_000002.12:g.147918575A>C	ExAC,TOPMed,gnomAD
COSM4414519	p.Ile318Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918584A>G	NCI-TCGA Cosmic
rs770165190	p.Ile323Met	missense variant	-	NC_000002.12:g.147920236C>G	ExAC,gnomAD
COSM3425266	p.Asn327His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147920246A>C	NCI-TCGA Cosmic
rs773498226	p.Leu329Val	missense variant	-	NC_000002.12:g.147920252C>G	ExAC,gnomAD
rs149682383	p.Leu334Met	missense variant	-	NC_000002.12:g.147920267C>A	ESP,ExAC,TOPMed,gnomAD
COSM475984	p.Ala336Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147920273G>T	NCI-TCGA Cosmic
rs1241543071	p.Ala336Asp	missense variant	-	NC_000002.12:g.147920274C>A	TOPMed
rs111862877	p.Ala336Thr	missense variant	-	NC_000002.12:g.147920273G>A	TOPMed
rs1190692563	p.Ile338Leu	missense variant	-	NC_000002.12:g.147920279A>C	gnomAD
NCI-TCGA novel	p.Ala344Val	missense variant	-	NC_000002.12:g.147920298C>T	NCI-TCGA
NCI-TCGA novel	p.Ala344Thr	missense variant	-	NC_000002.12:g.147920297G>A	NCI-TCGA
NCI-TCGA novel	p.Lys346Thr	missense variant	-	NC_000002.12:g.147920304A>C	NCI-TCGA
NCI-TCGA novel	p.Glu348Lys	missense variant	-	NC_000002.12:g.147920309G>A	NCI-TCGA
rs775352348	p.Ala349Val	missense variant	-	NC_000002.12:g.147920313C>T	ExAC,gnomAD
rs777150989	p.Ala349Ser	missense variant	-	NC_000002.12:g.147920312G>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys351Glu	missense variant	-	NC_000002.12:g.147920318A>G	NCI-TCGA
rs760629539	p.Ala353Thr	missense variant	-	NC_000002.12:g.147920324G>A	ExAC,gnomAD
rs1288007049	p.Ala353Val	missense variant	-	NC_000002.12:g.147920325C>T	gnomAD
rs760629539	p.Ala353Thr	missense variant	-	NC_000002.12:g.147920324G>A	NCI-TCGA,NCI-TCGA Cosmic
rs761274834	p.Asp355Asn	missense variant	-	NC_000002.12:g.147920330G>A	ExAC,gnomAD
rs1354318591	p.Thr356Ile	missense variant	-	NC_000002.12:g.147920334C>T	gnomAD
rs1051645003	p.His357Tyr	missense variant	-	NC_000002.12:g.147920336C>T	TOPMed,gnomAD
rs1317080991	p.Gly358Arg	missense variant	-	NC_000002.12:g.147920339G>A	gnomAD
rs750020244	p.Gln359Glu	missense variant	-	NC_000002.12:g.147920342C>G	ExAC,gnomAD
rs760336455	p.Arg363Trp	missense variant	-	NC_000002.12:g.147922982C>T	ExAC,gnomAD
COSM4942203	p.Met366Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147922991A>G	NCI-TCGA Cosmic
VAR_064692	p.Ala367Thr	Missense	-	-	UniProt
COSM4085316	p.Pro368Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147922997C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu372Ter	stop gained	-	NC_000002.12:g.147923009G>T	NCI-TCGA
NCI-TCGA novel	p.Glu372Gly	missense variant	-	NC_000002.12:g.147923010A>G	NCI-TCGA
COSM716484	p.Ala374Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147923015G>T	NCI-TCGA Cosmic
rs749606424	p.Ile375Val	missense variant	-	NC_000002.12:g.147923018A>G	gnomAD
NCI-TCGA novel	p.Asn376His	missense variant	-	NC_000002.12:g.147923021A>C	NCI-TCGA
NCI-TCGA novel	p.Gln378Ter	stop gained	-	NC_000002.12:g.147923027C>T	NCI-TCGA
NCI-TCGA novel	p.Arg379Ser	missense variant	-	NC_000002.12:g.147923032G>T	NCI-TCGA
COSM1007188	p.Ala381Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147923037C>T	NCI-TCGA Cosmic
rs1208111152	p.Ala381Ser	missense variant	-	NC_000002.12:g.147923036G>T	gnomAD
NCI-TCGA novel	p.Leu383Val	missense variant	-	NC_000002.12:g.147923042T>G	NCI-TCGA
NCI-TCGA novel	p.Leu383Ter	frameshift	-	NC_000002.12:g.147923039T>-	NCI-TCGA
rs1258959405	p.Arg384Thr	missense variant	-	NC_000002.12:g.147923046G>C	TOPMed
rs1234738721	p.Ile385Met	missense variant	-	NC_000002.12:g.147923050A>G	gnomAD
rs1210983508	p.Ile385Thr	missense variant	-	NC_000002.12:g.147923049T>C	TOPMed
NCI-TCGA novel	p.Asp386Asn	missense variant	-	NC_000002.12:g.147923051G>A	NCI-TCGA
rs919129287	p.Met387Thr	missense variant	-	NC_000002.12:g.147923055T>C	TOPMed
rs764714880	p.Met390Val	missense variant	-	NC_000002.12:g.147923063A>G	ExAC,gnomAD
rs1236542519	p.Val393Ile	missense variant	-	NC_000002.12:g.147923072G>A	TOPMed,gnomAD
rs1172432400	p.Ala398Thr	missense variant	-	NC_000002.12:g.147923087G>A	TOPMed,gnomAD
rs751979337	p.Arg400Cys	missense variant	-	NC_000002.12:g.147923093C>T	ExAC,gnomAD
rs1296122552	p.Arg400His	missense variant	-	NC_000002.12:g.147923094G>A	gnomAD
rs199516039	p.Thr402Ile	missense variant	-	NC_000002.12:g.147923100C>T	ExAC,gnomAD
rs199516039	p.Thr402Ser	missense variant	-	NC_000002.12:g.147923100C>G	ExAC,gnomAD
rs1214607593	p.Pro407Arg	missense variant	-	NC_000002.12:g.147926034C>G	gnomAD
NCI-TCGA novel	p.Tyr411Asp	missense variant	-	NC_000002.12:g.147926045T>G	NCI-TCGA
rs1381346962	p.Met412Thr	missense variant	-	NC_000002.12:g.147926049T>C	TOPMed
NCI-TCGA novel	p.Glu418Gly	missense variant	-	NC_000002.12:g.147926067A>G	NCI-TCGA
rs1272750384	p.Ile419Phe	missense variant	-	NC_000002.12:g.147926069A>T	gnomAD
COSM6050774	p.Gln429Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147926099C>T	NCI-TCGA Cosmic
rs1360231167	p.Val431Ala	missense variant	-	NC_000002.12:g.147926106T>C	gnomAD
NCI-TCGA novel	p.Val432Gly	missense variant	-	NC_000002.12:g.147926109T>G	NCI-TCGA
rs377566208	p.His434Leu	missense variant	-	NC_000002.12:g.147926115A>T	ESP,ExAC,TOPMed,gnomAD
rs1163808315	p.Lys435Gln	missense variant	-	NC_000002.12:g.147926117A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys436Glu	missense variant	-	NC_000002.12:g.147926120A>G	NCI-TCGA
rs764719749	p.Lys437ArgPheSerTerUnk	frameshift	-	NC_000002.12:g.147926117A>-	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys437Glu	missense variant	-	NC_000002.12:g.147926123A>G	NCI-TCGA
NCI-TCGA novel	p.Lys437GluPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147926117_147926118AA>-	NCI-TCGA
COSM1399832	p.Arg438GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147926116_147926117insA	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp443Asn	missense variant	-	NC_000002.12:g.147926141G>A	NCI-TCGA
NCI-TCGA novel	p.Asp443Tyr	missense variant	-	NC_000002.12:g.147926141G>T	NCI-TCGA
NCI-TCGA novel	p.Gln446Pro	missense variant	-	NC_000002.12:g.147926151A>C	NCI-TCGA
COSM3894913	p.Lys447Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147926153A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala449GlyPheSerTerUnk	frameshift	-	NC_000002.12:g.147926158_147926159insG	NCI-TCGA
NCI-TCGA novel	p.Met451SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147927084_147927090TGGCAAT>-	NCI-TCGA
rs1352764340	p.Met453Ile	missense variant	-	NC_000002.12:g.147927091G>A	gnomAD
rs762399265	p.Met453Val	missense variant	-	NC_000002.12:g.147927089A>G	ExAC,TOPMed,gnomAD
rs1490498075	p.Ile458Thr	missense variant	-	NC_000002.12:g.147927105T>C	TOPMed
rs749174459	p.Ala466Thr	missense variant	-	NC_000002.12:g.147927128G>A	ExAC,TOPMed,gnomAD
COSM205865	p.Gly473AspPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147927149G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys474TyrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147927151_147927167ATGTGTAGGTGAAAGAA>-	NCI-TCGA
rs1439021007	p.Gly476Arg	missense variant	-	NC_000002.12:g.147927158G>C	TOPMed,gnomAD
rs778260944	p.Gly476Asp	missense variant	-	NC_000002.12:g.147927159G>A	ExAC,gnomAD
COSM1399833	p.Arg478Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147927165G>T	NCI-TCGA Cosmic
COSM4085317	p.Met482Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147927178G>A	NCI-TCGA Cosmic
rs1439498173	p.Leu485Arg	missense variant	-	NC_000002.12:g.147927186T>G	gnomAD
NCI-TCGA novel	p.Thr486Ala	missense variant	-	NC_000002.12:g.147927188A>G	NCI-TCGA
rs141305891	p.Ile488Thr	missense variant	-	NC_000002.12:g.147927195T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs548287143	p.Ile489Thr	missense variant	-	NC_000002.12:g.147927198T>C	1000Genomes,ExAC,gnomAD
rs775215388	p.Ile489Val	missense variant	-	NC_000002.12:g.147927197A>G	ExAC,gnomAD
rs367648716	p.Thr490Asn	missense variant	-	NC_000002.12:g.147927201C>A	ESP,ExAC,TOPMed,gnomAD
rs367648716	p.Thr490Ile	missense variant	-	NC_000002.12:g.147927201C>T	ESP,ExAC,TOPMed,gnomAD
rs1043255902	p.Asp493Asn	missense variant	-	NC_000002.12:g.147927209G>A	TOPMed
rs202050064	p.Ile494Thr	missense variant	-	NC_000002.12:g.147927213T>C	ExAC,TOPMed,gnomAD
rs765408586	p.Val495Leu	missense variant	-	NC_000002.12:g.147927215G>T	ExAC,TOPMed,gnomAD
rs750494074	p.Val497Ala	missense variant	-	NC_000002.12:g.147927222T>C	ExAC,gnomAD
rs147624201	p.Met500Val	missense variant	-	NC_000002.12:g.147927230A>G	ESP,ExAC,TOPMed,gnomAD
rs751725699	p.Val501Met	missense variant	-	NC_000002.12:g.147927233G>A	ExAC,gnomAD
rs1195823364	p.Asn503Tyr	missense variant	-	NC_000002.12:g.147927239A>T	gnomAD
rs755965917	p.Val504Ala	missense variant	-	NC_000002.12:g.147927243T>C	ExAC,gnomAD
rs777395294	p.Pro507Leu	missense variant	-	NC_000002.12:g.147927252C>T	ExAC,TOPMed,gnomAD
COSM167400	p.Glu510Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147927260G>T	NCI-TCGA Cosmic
rs750820855	p.Ser511Thr	missense variant	-	NC_000002.12:g.147927263T>A	TOPMed,gnomAD
rs1206220819	p.Ser511Cys	missense variant	-	NC_000002.12:g.147927264C>G	gnomAD
NCI-TCGA novel	p.Ser512MetPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147927261_147927265AATCT>-	NCI-TCGA
NCI-TCGA novel	p.Ser512ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.147927267_147927268GT>-	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007102	Malignant tumor of colon	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0009375	Colonic Neoplasms	group	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE;LHGDN
C0013537	Eclampsia	disease	BEFREE
C0014084	Enchondromatosis	disease	BEFREE
C0015306	Hereditary Multiple Exostoses	disease	BEFREE
C0017185	Gastrointestinal Neoplasms	group	BEFREE
C0024814	Marinesco-Sjogren syndrome	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0031900	Pierre Robin Syndrome	disease	MGD
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0032914	Pre-Eclampsia	phenotype	LHGDN
C0033578	Prostatic Neoplasms	group	LHGDN
C0202239	Uric acid measurement (procedure)	phenotype	GWASDB
C0206641	Osteochondromatosis	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0278701	Gastric Adenocarcinoma	disease	UNIPROT
C0341858	Endometriosis of uterus	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0920269	Microsatellite Instability	phenotype	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1332922	Cervical Squamous Intraepithelial Neoplasia	disease	BEFREE
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1721098	Replication Error Phenotype	phenotype	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004674	protein serine/threonine kinase activity	IBA
GO:0004674	protein serine/threonine kinase activity	EXP
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	TAS
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0015026	coreceptor activity	IDA
GO:0017002	activin-activated receptor activity	IBA
GO:0019838	growth factor binding	IEA
GO:0030165	PDZ domain binding	IEA
GO:0034711	inhibin binding	IEA
GO:0043621	protein self-association	IEA
GO:0046872	metal ion binding	IEA
GO:0048185	activin binding	IBA
GO:0098821	BMP receptor activity	ISS
GO:0017002	activin-activated receptor activity	IDA
GO:0048185	activin binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001702	gastrulation with mouth forming second	IEA
GO:0001934	positive regulation of protein phosphorylation	IMP
GO:0006468	protein phosphorylation	IBA
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	TAS
GO:0007283	spermatogenesis	IEA
GO:0007368	determination of left/right symmetry	IEA
GO:0007498	mesoderm development	IEA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP
GO:0030501	positive regulation of bone mineralization	IMP
GO:0030509	BMP signaling pathway	IMP
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	TAS
GO:0032924	activin receptor signaling pathway	IMP
GO:0032924	activin receptor signaling pathway	IBA
GO:0032927	positive regulation of activin receptor signaling pathway	IDA
GO:0042713	sperm ejaculation	IEA
GO:0043084	penile erection	IEA
GO:0045648	positive regulation of erythrocyte differentiation	IDA
GO:0045669	positive regulation of osteoblast differentiation	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0048706	embryonic skeletal system development	IEA
GO:0050999	regulation of nitric-oxide synthase activity	IEA
GO:0060011	Sertoli cell proliferation	IEA
GO:0071363	cellular response to growth factor stimulus	IBA
GO:0071773	cellular response to BMP stimulus	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0009986	cell surface	IEA
GO:0034673	inhibin-betaglycan-ActRII complex	IDA
GO:0043235	receptor complex	IBA
GO:0043235	receptor complex	IPI
GO:0048179	activin receptor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1181150	Signaling by NODAL	IEA
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1433617	Regulation of signaling by NODAL	IEA
R-HSA-1502540	Signaling by Activin	TAS
R-HSA-1502540	Signaling by Activin	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-201451	Signaling by BMP	TAS
R-HSA-9006936	Signaling by TGF-beta family members	TAS
R-HSA-9006936	Signaling by TGF-beta family members	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000082	Acetaminophen	Acetaminophen results in increased expression of ACVR2A mRNA	21420995; 22230336;
D000082	Acetaminophen	ACVR2A gene polymorphism affects the susceptibility to Acetaminophen	26104854
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of ACVR2A mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of ACVR2A mRNA	16483693
D001151	Arsenic	Arsenic affects the expression of ACVR2A protein	24675094
C006780	bisphenol A	bisphenol A results in decreased expression of ACVR2A mRNA	22576693; 27685785;
C006780	bisphenol A	bisphenol A results in increased methylation of ACVR2A gene	22576693
C006780	bisphenol A	bisphenol A results in decreased expression of ACVR2A mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of ACVR2A gene	28505145
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ACVR2A mRNA	12706302
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of ACVR2A mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in increased expression of ACVR2A mRNA	24386269
D016572	Cyclosporine	Cyclosporine results in decreased expression of ACVR2A mRNA	25562108
D003703	Demecolcine	Demecolcine results in increased expression of ACVR2A mRNA	23649840
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ACVR2A mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in decreased expression of ACVR2A mRNA	18042831
D004317	Doxorubicin	Doxorubicin results in decreased expression of ACVR2A mRNA	29803840
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of ACVR2A mRNA	23649840
D019833	Genistein	Genistein results in decreased expression of ACVR2A mRNA	17341692
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of ACVR2A mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of ACVR2A mRNA	27392435
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of ACVR2A mRNA	23649840
C000627226	momfluorothrin	momfluorothrin results in decreased expression of ACVR2A mRNA	28520973
C025589	ochratoxin A	ochratoxin A results in increased expression of ACVR2A mRNA	12700408
D000073878	Palm Oil	Palm Oil results in decreased expression of ACVR2A mRNA	18042831
C016030	pantogab	pantogab results in decreased expression of ACVR2A mRNA	17379144
D010269	Paraquat	Paraquat affects the expression of ACVR2A mRNA	16854511
D010269	Paraquat	Paraquat results in decreased expression of ACVR2A mRNA	18198484
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of ACVR2A mRNA	18593933
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ACVR2A mRNA	19710929
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of ACVR2A mRNA	22714537
D011441	Propylthiouracil	Propylthiouracil results in increased expression of ACVR2A mRNA	24780913
D018030	Silver Compounds	Silver Compounds results in increased expression of ACVR2A mRNA	29703973
C017947	sodium arsenite	sodium arsenite affects the methylation of ACVR2A gene	28589171
C017947	sodium arsenite	sodium arsenite results in increased expression of ACVR2A mRNA	22714537
D000077210	Sunitinib	Sunitinib results in increased expression of ACVR2A mRNA	31533062
D013739	Testosterone	Testosterone results in decreased expression of ACVR2A mRNA	22138414
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ACVR2A mRNA	18691609; 21570461;
C009495	titanium dioxide	titanium dioxide results in decreased expression of ACVR2A mRNA	29264374
D014118	Toxins, Biological	Toxins, Biological affects the expression of ACVR2A mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of ACVR2A	8959336
D014241	Trichloroethylene	Trichloroethylene results in decreased methylation of ACVR2A gene	27618143
D014284	Triiodothyronine	Triiodothyronine results in increased expression of ACVR2A mRNA	17403546
D014520	Urethane	Urethane results in increased expression of ACVR2A mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of ACVR2A mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of ACVR2A mRNA	23179753
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of ACVR2A gene	25560391
D014810	Vitamin E	Vitamin E results in decreased expression of ACVR2A mRNA	19244175
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of ACVR2A mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0418	Kinase
KW-0460	Magnesium
KW-0464	Manganese
KW-0472	Membrane
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0723	Serine/threonine-protein kinase
KW-0732	Signal
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR000472	Activin_recp
IPR011009	Kinase-like_dom_sf
IPR000719	Prot_kinase_dom
IPR008271	Ser/Thr_kinase_AS
IPR000333	TGFB_receptor

PROSITE

PROSITE ID	PROSITE Term
PS50011	PROTEIN_KINASE_DOM
PS00108	PROTEIN_KINASE_ST

Pfam

Pfam ID	Pfam Term
PF01064	Activin_recp
PF00069	Pkinase

Gene: ACVR2A

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

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