CleftGeneDB-Search

Gene: GSC

Basic information

Tag	Content
Uniprot ID	P56915; Q86YR1;
Entrez ID	145258
Genbank protein ID	AAO18645.1; AAH63580.1;
Genbank nucleotide ID	NM_173849.2
Ensembl protein ID	ENSP00000238558
Ensembl nucleotide ID	ENSG00000133937
Gene name	Homeobox protein goosecoid
Gene symbol	GSC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.
Sequence	MPASMFSIDN ILAARPRCKD SVLPVAHSAA APVVFPALHG DSLYGASGGA SSDYGAFYPR 60 PVAPGGAGLP AAVSGSRLGY NNYFYGQLHV QAAPVGPACC GAVPPLGAQQ CSCVPTPPGY 120 EGPGSVLVSP VPHQMLPYMN VGTLSRTELQ LLNQLHCRRK RRHRTIFTDE QLEALENLFQ 180 ETKYPDVGTR EQLARKVHLR EEKVEVWFKN RRAKWRRQKR SSSEESENAE KWNKTSSSKA 240 SPEKREEEGK SDLDSDS 257

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
2DMU

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	GSC	514862	E1BB15			Bos taurus	Prediction	More>>
1:1 ortholog	GSC	102185957	A0A452FMK4			Capra hircus	Prediction	More>>
1:1 ortholog	GSC	145258	P56915			Homo sapiens	Prediction	More>>
1:1 ortholog	Gsc	14836	Q02591	CPO	E12.5, E13.75, E13.5, E14.5, E15.5	Mus musculus	Publication	More>>
1:1 ortholog	GSC	467546	A2T733			Pan troglodytes	Prediction	More>>
1:1 ortholog	GSC	397342	F1SCC4			Sus scrofa	Prediction	More>>
1:1 ortholog	Gsc	317715	G3V7E7			Rattus norvegicus	Prediction	More>>
1:1 ortholog	gsc		Q7ZZR4			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1379514100	p.Pro2Leu	missense variant	-	NC_000014.9:g.94770011G>A	gnomAD
rs868545171	p.Pro2Thr	missense variant	-	NC_000014.9:g.94770012G>T	TOPMed
rs868545171	p.Pro2Ser	missense variant	-	NC_000014.9:g.94770012G>A	TOPMed
rs1480263027	p.Ala3Thr	missense variant	-	NC_000014.9:g.94770009C>T	gnomAD
rs747285885	p.Ser7Asn	missense variant	-	NC_000014.9:g.94769996C>T	ExAC,gnomAD
rs778230655	p.Ile8Thr	missense variant	-	NC_000014.9:g.94769993A>G	ExAC,gnomAD
rs1029759374	p.Asp9Tyr	missense variant	-	NC_000014.9:g.94769991C>A	gnomAD
rs753305679	p.Asn10Ser	missense variant	-	NC_000014.9:g.94769987T>C	ExAC,gnomAD
rs764836563	p.Leu12Pro	missense variant	-	NC_000014.9:g.94769981A>G	ExAC,gnomAD
rs1288594053	p.Ala13Val	missense variant	-	NC_000014.9:g.94769978G>A	gnomAD
rs1240851072	p.Arg15Trp	missense variant	-	NC_000014.9:g.94769973G>A	gnomAD
rs1333825291	p.Arg17Leu	missense variant	-	NC_000014.9:g.94769966C>A	gnomAD
rs868242635	p.Lys19Glu	missense variant	-	NC_000014.9:g.94769961T>C	TOPMed
rs1328098437	p.Lys19Asn	missense variant	-	NC_000014.9:g.94769959C>G	gnomAD
rs1396581310	p.Ser21Leu	missense variant	-	NC_000014.9:g.94769954G>A	gnomAD
rs1300245006	p.Val22Gly	missense variant	-	NC_000014.9:g.94769951A>C	TOPMed
rs1334733197	p.Val22Met	missense variant	-	NC_000014.9:g.94769952C>T	gnomAD
rs753414164	p.Leu23Phe	missense variant	-	NC_000014.9:g.94769947C>G	ExAC,TOPMed,gnomAD
rs1412894670	p.Pro24Leu	missense variant	-	NC_000014.9:g.94769945G>A	gnomAD
rs1468916690	p.Val25Met	missense variant	-	NC_000014.9:g.94769943C>T	gnomAD
rs1006202219	p.Ala26Val	missense variant	-	NC_000014.9:g.94769939G>A	TOPMed,gnomAD
rs1196608911	p.Ala26Pro	missense variant	-	NC_000014.9:g.94769940C>G	TOPMed
rs1444585049	p.His27Arg	missense variant	-	NC_000014.9:g.94769936T>C	gnomAD
rs1241865372	p.Ser28Asn	missense variant	-	NC_000014.9:g.94769933C>T	gnomAD
rs1385061223	p.Ala29Val	missense variant	-	NC_000014.9:g.94769930G>A	gnomAD
rs760439922	p.Ala30Val	missense variant	-	NC_000014.9:g.94769927G>A	ExAC,gnomAD
rs767391192	p.Ala31Thr	missense variant	-	NC_000014.9:g.94769925C>T	ExAC
rs761638109	p.Pro32Ser	missense variant	-	NC_000014.9:g.94769922G>A	ExAC,TOPMed,gnomAD
rs1478894684	p.Val33Ile	missense variant	-	NC_000014.9:g.94769919C>T	TOPMed
rs1348239887	p.Val34Ile	missense variant	-	NC_000014.9:g.94769916C>T	TOPMed,gnomAD
rs1245276938	p.Pro36Gln	missense variant	-	NC_000014.9:g.94769909G>T	gnomAD
rs1350971326	p.Ala37Asp	missense variant	-	NC_000014.9:g.94769906G>T	TOPMed
rs1451984437	p.Leu38Met	missense variant	-	NC_000014.9:g.94769904G>T	TOPMed,gnomAD
rs771101600	p.Gly40Arg	missense variant	-	NC_000014.9:g.94769898C>T	ExAC,TOPMed,gnomAD
rs1220047294	p.Gly40Glu	missense variant	-	NC_000014.9:g.94769897C>T	TOPMed
rs771101600	p.Gly40Arg	missense variant	-	NC_000014.9:g.94769898C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp41Asn	missense variant	-	NC_000014.9:g.94769895C>T	NCI-TCGA
rs1292028524	p.Gly45Asp	missense variant	-	NC_000014.9:g.94769882C>T	TOPMed
rs1216243523	p.Gly45Cys	missense variant	-	NC_000014.9:g.94769883C>A	TOPMed
rs777988148	p.Ala46Asp	missense variant	-	NC_000014.9:g.94769879G>T	ExAC,gnomAD
rs747295443	p.Ala46Ser	missense variant	-	NC_000014.9:g.94769880C>A	ExAC,TOPMed,gnomAD
rs747295443	p.Ala46Thr	missense variant	-	NC_000014.9:g.94769880C>T	ExAC,TOPMed,gnomAD
rs772555300	p.Gly48Asp	missense variant	-	NC_000014.9:g.94769873C>T	ExAC,TOPMed,gnomAD
rs531310446	p.Gly49Cys	missense variant	-	NC_000014.9:g.94769871C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs531310446	p.Gly49Ser	missense variant	-	NC_000014.9:g.94769871C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1489394553	p.Gly49Val	missense variant	-	NC_000014.9:g.94769870C>A	TOPMed
rs1476920780	p.Ser51Phe	missense variant	-	NC_000014.9:g.94769864G>A	TOPMed
rs1444877483	p.Ser51Pro	missense variant	-	NC_000014.9:g.94769865A>G	gnomAD
rs1283160997	p.Asp53His	missense variant	-	NC_000014.9:g.94769859C>G	gnomAD
rs1165043427	p.Asp53Val	missense variant	-	NC_000014.9:g.94769858T>A	TOPMed
rs755567297	p.Tyr54Ser	missense variant	-	NC_000014.9:g.94769855T>G	ExAC,TOPMed,gnomAD
rs1298497051	p.Arg60Leu	missense variant	-	NC_000014.9:g.94769837C>A	TOPMed
rs572177972	p.Pro64Ser	missense variant	-	NC_000014.9:g.94769826G>A	1000Genomes
rs1324470038	p.Gly65Ser	missense variant	-	NC_000014.9:g.94769823C>T	gnomAD
RCV000114411	p.Gly66Ter	frameshift	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)	NC_000014.9:g.94769810_94769826del	ClinVar
rs1364172180	p.Ala67Ser	missense variant	-	NC_000014.9:g.94769817C>A	gnomAD
rs145932252	p.Ala72Thr	missense variant	-	NC_000014.9:g.94769802C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1217058294	p.Ser74Asn	missense variant	-	NC_000014.9:g.94769795C>T	TOPMed
rs1487417555	p.Gly75Ala	missense variant	-	NC_000014.9:g.94769792C>G	TOPMed
rs761600442	p.Gly75Arg	missense variant	-	NC_000014.9:g.94769793C>G	ExAC,TOPMed,gnomAD
rs761600442	p.Gly75Ser	missense variant	-	NC_000014.9:g.94769793C>T	ExAC,TOPMed,gnomAD
rs751365495	p.Arg77His	missense variant	-	NC_000014.9:g.94769786C>T	ExAC,gnomAD
rs1189735421	p.Arg77Cys	missense variant	-	NC_000014.9:g.94769787G>A	TOPMed
NCI-TCGA novel	p.Arg77Leu	missense variant	-	NC_000014.9:g.94769786C>A	NCI-TCGA
rs1472761671	p.Gly79Cys	missense variant	-	NC_000014.9:g.94769781C>A	TOPMed
rs1382690744	p.Phe84Tyr	missense variant	-	NC_000014.9:g.94769765A>T	TOPMed
rs951684427	p.Gly86Trp	missense variant	-	NC_000014.9:g.94769760C>A	TOPMed
rs1380125441	p.His89Gln	missense variant	-	NC_000014.9:g.94769749G>C	TOPMed
rs1304027611	p.His89Tyr	missense variant	-	NC_000014.9:g.94769751G>A	TOPMed,gnomAD
rs866018623	p.Val90Ala	missense variant	-	NC_000014.9:g.94769747A>G	TOPMed
rs574191507	p.Pro94Leu	missense variant	-	NC_000014.9:g.94769735G>A	1000Genomes,gnomAD
rs1446632653	p.Val95Gly	missense variant	-	NC_000014.9:g.94769732A>C	TOPMed
rs1342735228	p.Val95Met	missense variant	-	NC_000014.9:g.94769733C>T	gnomAD
rs776660853	p.Gly96Ala	missense variant	-	NC_000014.9:g.94769729C>G	ExAC,gnomAD
rs1338888397	p.Ala98Thr	missense variant	-	NC_000014.9:g.94769724C>T	TOPMed,gnomAD
rs1407039749	p.Gly101Val	missense variant	-	NC_000014.9:g.94769714C>A	gnomAD
rs1025867069	p.Gly101Arg	missense variant	-	NC_000014.9:g.94769715C>T	TOPMed,gnomAD
rs1025867069	p.Gly101Arg	missense variant	-	NC_000014.9:g.94769715C>G	TOPMed,gnomAD
rs1344004949	p.Ala102Pro	missense variant	-	NC_000014.9:g.94769712C>G	gnomAD
rs771046649	p.Val103Leu	missense variant	-	NC_000014.9:g.94769709C>A	ExAC,TOPMed,gnomAD
rs771046649	p.Val103Leu	missense variant	-	NC_000014.9:g.94769709C>G	ExAC,TOPMed,gnomAD
rs1356744173	p.Pro104Gln	missense variant	-	NC_000014.9:g.94769705G>T	gnomAD
rs1168976593	p.Pro105Leu	missense variant	-	NC_000014.9:g.94769702G>A	TOPMed,gnomAD
rs952294613	p.Gln109His	missense variant	-	NC_000014.9:g.94769689C>A	TOPMed
rs1407685841	p.Gln109Ter	stop gained	-	NC_000014.9:g.94769691G>A	gnomAD
rs1178440114	p.Gln110His	missense variant	-	NC_000014.9:g.94769686C>G	TOPMed
rs1440827298	p.Gln110Ter	stop gained	-	NC_000014.9:g.94769688G>A	TOPMed
rs1378776285	p.Cys111Gly	missense variant	-	NC_000014.9:g.94769685A>C	TOPMed
rs1468647753	p.Cys113Arg	missense variant	-	NC_000014.9:g.94769679A>G	TOPMed,gnomAD
rs1481182094	p.Val114Ile	missense variant	-	NC_000014.9:g.94769676C>T	gnomAD
rs1026972712	p.Pro115Arg	missense variant	-	NC_000014.9:g.94769672G>C	TOPMed,gnomAD
rs1026972712	p.Pro115Leu	missense variant	-	NC_000014.9:g.94769672G>A	TOPMed,gnomAD
rs972380535	p.Pro117Ala	missense variant	-	NC_000014.9:g.94769667G>C	TOPMed,gnomAD
rs1380479580	p.Glu121Val	missense variant	-	NC_000014.9:g.94769211T>A	gnomAD
rs749863959	p.Glu121Lys	missense variant	-	NC_000014.9:g.94769212C>T	ExAC,gnomAD
rs1317804947	p.Gly122Ser	missense variant	-	NC_000014.9:g.94769209C>T	TOPMed,gnomAD
rs755714120	p.Pro123Ser	missense variant	-	NC_000014.9:g.94769206G>A	ExAC,gnomAD
rs1335668055	p.Val126Met	missense variant	-	NC_000014.9:g.94769197C>T	gnomAD
rs1454045075	p.Val128Leu	missense variant	-	NC_000014.9:g.94769191C>A	gnomAD
rs1454045075	p.Val128Leu	missense variant	-	NC_000014.9:g.94769191C>G	gnomAD
rs1156583612	p.Ser129Phe	missense variant	-	NC_000014.9:g.94769187G>A	gnomAD
rs1346612042	p.Ser129Ala	missense variant	-	NC_000014.9:g.94769188A>C	gnomAD
NCI-TCGA novel	p.Ser129Pro	missense variant	-	NC_000014.9:g.94769188A>G	NCI-TCGA
rs1185392823	p.Pro130Gln	missense variant	-	NC_000014.9:g.94769184G>T	gnomAD
rs1385729985	p.Pro130Ala	missense variant	-	NC_000014.9:g.94769185G>C	gnomAD
rs1242676736	p.Val131Gly	missense variant	-	NC_000014.9:g.94769181A>C	gnomAD
rs376420400	p.Val131Leu	missense variant	-	NC_000014.9:g.94769182C>A	ESP,ExAC,TOPMed,gnomAD
rs1187203180	p.His133Pro	missense variant	-	NC_000014.9:g.94769175T>G	gnomAD
rs919228928	p.His133Gln	missense variant	-	NC_000014.9:g.94769174G>T	TOPMed,gnomAD
rs587777289	p.Gln134Lys	missense variant	-	NC_000014.9:g.94769173G>T	gnomAD
rs587777289	p.Gln134Ter	stop gained	-	NC_000014.9:g.94769173G>A	gnomAD
RCV000114412	p.Gln134Ter	nonsense	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)	NC_000014.9:g.94769173G>A	ClinVar
rs1294547935	p.Met139Ile	missense variant	-	NC_000014.9:g.94769156C>T	gnomAD
rs756880471	p.Met139Val	missense variant	-	NC_000014.9:g.94769158T>C	ExAC,gnomAD
rs751314200	p.Met139Thr	missense variant	-	NC_000014.9:g.94769157A>G	ExAC,TOPMed,gnomAD
rs756880471	p.Met139Leu	missense variant	-	NC_000014.9:g.94769158T>G	ExAC,gnomAD
rs752698866	p.Thr143Met	missense variant	-	NC_000014.9:g.94769145G>A	ExAC,gnomAD
rs916846613	p.Ser145Thr	missense variant	-	NC_000014.9:g.94769140A>T	TOPMed
rs765091352	p.Arg146His	missense variant	-	NC_000014.9:g.94769136C>T	ExAC,gnomAD
rs1286775634	p.Arg146Gly	missense variant	-	NC_000014.9:g.94769137G>C	gnomAD
rs990862083	p.Thr147Ala	missense variant	-	NC_000014.9:g.94769134T>C	TOPMed
rs527327953	p.Glu148Lys	missense variant	-	NC_000014.9:g.94769131C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767740982	p.Gln150His	missense variant	-	NC_000014.9:g.94769123C>G	ExAC,gnomAD
rs1430405915	p.Gln154Arg	missense variant	-	NC_000014.9:g.94769112T>C	gnomAD
rs149410963	p.Gln154His	missense variant	-	NC_000014.9:g.94769111C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149410963	p.Gln154His	missense variant	-	NC_000014.9:g.94769111C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1490614477	p.His156Arg	missense variant	-	NC_000014.9:g.94769106T>C	TOPMed,gnomAD
rs1490614477	p.His156Leu	missense variant	-	NC_000014.9:g.94769106T>A	TOPMed,gnomAD
rs765088049	p.Arg158Trp	missense variant	-	NC_000014.9:g.94769101G>A	TOPMed,gnomAD
rs1220736807	p.Arg159Gln	missense variant	-	NC_000014.9:g.94769097C>T	TOPMed,gnomAD
rs1220736807	p.Arg159Leu	missense variant	-	NC_000014.9:g.94769097C>A	TOPMed,gnomAD
COSM3690263	p.Arg159Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94769098G>A	NCI-TCGA Cosmic
rs1359265713	p.Arg161Trp	missense variant	-	NC_000014.9:g.94769092G>A	gnomAD
rs966481476	p.His163Arg	missense variant	-	NC_000014.9:g.94769085T>C	TOPMed,gnomAD
rs1478883993	p.Arg164Gly	missense variant	-	NC_000014.9:g.94769083G>C	TOPMed
rs1399080377	p.Thr165Ile	missense variant	-	NC_000014.9:g.94769079G>A	gnomAD
rs1304664618	p.Ile166Val	missense variant	-	NC_000014.9:g.94769077T>C	gnomAD
rs1408647165	p.Asp169Gly	missense variant	-	NC_000014.9:g.94769067T>C	TOPMed
rs1475607815	p.Glu170Gly	missense variant	-	NC_000014.9:g.94769064T>C	TOPMed,gnomAD
rs1475607815	p.Glu170Val	missense variant	-	NC_000014.9:g.94769064T>A	TOPMed,gnomAD
COSM1371840	p.Leu172Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94769058A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu173Lys	missense variant	-	NC_000014.9:g.94769056C>T	NCI-TCGA
rs1298728944	p.Ala174Thr	missense variant	-	NC_000014.9:g.94769053C>T	TOPMed,gnomAD
rs1436180696	p.Ala174Gly	missense variant	-	NC_000014.9:g.94769052G>C	TOPMed
rs1463563715	p.Leu175Phe	missense variant	-	NC_000014.9:g.94769050G>A	gnomAD
NCI-TCGA novel	p.Glu176Asp	missense variant	-	NC_000014.9:g.94769045C>A	NCI-TCGA
rs1241350234	p.Asn177Thr	missense variant	-	NC_000014.9:g.94769043T>G	gnomAD
rs1169991794	p.Leu178Val	missense variant	-	NC_000014.9:g.94769041G>C	gnomAD
rs1169991794	p.Leu178Phe	missense variant	-	NC_000014.9:g.94769041G>A	gnomAD
rs1431721337	p.Glu181Lys	missense variant	-	NC_000014.9:g.94769032C>T	TOPMed,gnomAD
rs777531321	p.Asp186Glu	missense variant	-	NC_000014.9:g.94769015G>C	ExAC,TOPMed,gnomAD
rs369844550	p.Val187Leu	missense variant	-	NC_000014.9:g.94769014C>A	ESP,gnomAD
rs369844550	p.Val187Leu	missense variant	-	NC_000014.9:g.94769014C>G	ESP,gnomAD
rs562169265	p.Thr189Ala	missense variant	-	NC_000014.9:g.94769008T>C	1000Genomes,ExAC,gnomAD
rs1217492242	p.Thr189Met	missense variant	-	NC_000014.9:g.94769007G>A	gnomAD
rs1291786221	p.Arg190Ser	missense variant	-	NC_000014.9:g.94769005G>T	TOPMed
rs750487062	p.Glu191Lys	missense variant	-	NC_000014.9:g.94769002C>T	ExAC,gnomAD
rs750487062	p.Glu191Gln	missense variant	-	NC_000014.9:g.94769002C>G	ExAC,gnomAD
rs1307614548	p.Ala194Thr	missense variant	-	NC_000014.9:g.94768993C>T	gnomAD
rs1289945233	p.Ala194Gly	missense variant	-	NC_000014.9:g.94768992G>C	TOPMed
rs1289945233	p.Ala194Val	missense variant	-	NC_000014.9:g.94768992G>A	TOPMed
rs1393127035	p.Arg195Gln	missense variant	-	NC_000014.9:g.94768989C>T	gnomAD
rs1297615827	p.Val197Ala	missense variant	-	NC_000014.9:g.94768983A>G	gnomAD
rs1297615827	p.Val197Ala	missense variant	-	NC_000014.9:g.94768983A>G	NCI-TCGA Cosmic
rs1470361138	p.His198Tyr	missense variant	-	NC_000014.9:g.94768981G>A	gnomAD
rs774777528	p.Arg200His	missense variant	-	NC_000014.9:g.94768974C>T	ExAC,TOPMed,gnomAD
rs774777528	p.Arg200Leu	missense variant	-	NC_000014.9:g.94768974C>A	ExAC,TOPMed,gnomAD
rs774777528	p.Arg200His	missense variant	-	NC_000014.9:g.94768974C>T	NCI-TCGA Cosmic
rs1174607751	p.Glu201Ter	stop gained	-	NC_000014.9:g.94768972C>A	gnomAD
COSM1371839	p.Glu201Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94768972C>T	NCI-TCGA Cosmic
rs376810813	p.Glu202Asp	missense variant	-	NC_000014.9:g.94768967C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763348360	p.Val204Glu	missense variant	-	NC_000014.9:g.94768962A>T	ExAC,gnomAD
rs1360367196	p.Arg211His	missense variant	-	NC_000014.9:g.94768633C>T	gnomAD
rs1427043700	p.Arg212Gly	missense variant	-	NC_000014.9:g.94768631G>C	gnomAD
NCI-TCGA novel	p.Arg212His	missense variant	-	NC_000014.9:g.94768630C>T	NCI-TCGA
rs1160908761	p.Ala213Ser	missense variant	-	NC_000014.9:g.94768628C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala213Gly	missense variant	-	NC_000014.9:g.94768627G>C	NCI-TCGA
rs778759721	p.Gln218Pro	missense variant	-	NC_000014.9:g.94768612T>G	ExAC,gnomAD
rs778759721	p.Gln218Arg	missense variant	-	NC_000014.9:g.94768612T>C	ExAC,gnomAD
rs1472190021	p.Gln218Ter	stop gained	-	NC_000014.9:g.94768613G>A	gnomAD
rs768406079	p.Arg220Gly	missense variant	-	NC_000014.9:g.94768607G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser223Leu	missense variant	-	NC_000014.9:g.94768597G>A	NCI-TCGA
rs1459306477	p.Ser226Ter	stop gained	-	NC_000014.9:g.94768588G>T	TOPMed
rs1361458704	p.Asn228Ser	missense variant	-	NC_000014.9:g.94768582T>C	TOPMed,gnomAD
rs543612146	p.Ala229Ser	missense variant	-	NC_000014.9:g.94768580C>A	1000Genomes,ExAC,gnomAD
rs751647283	p.Glu230Gly	missense variant	-	NC_000014.9:g.94768576T>C	ExAC,TOPMed,gnomAD
rs778037023	p.Lys231Arg	missense variant	-	NC_000014.9:g.94768573T>C	ExAC,gnomAD
rs1300142965	p.Trp232Ter	stop gained	-	NC_000014.9:g.94768569C>T	TOPMed
rs1300142965	p.Trp232Ter	stop gained	-	NC_000014.9:g.94768569C>T	NCI-TCGA Cosmic
rs1304063152	p.Asn233Lys	missense variant	-	NC_000014.9:g.94768566G>T	gnomAD
NCI-TCGA novel	p.Asn233Tyr	missense variant	-	NC_000014.9:g.94768568T>A	NCI-TCGA
rs758669591	p.Lys234Arg	missense variant	-	NC_000014.9:g.94768564T>C	ExAC,gnomAD
rs1407179343	p.Lys234Glu	missense variant	-	NC_000014.9:g.94768565T>C	gnomAD
rs759761613	p.Ser236Leu	missense variant	-	NC_000014.9:g.94768558G>A	NCI-TCGA
rs759761613	p.Ser236Ter	stop gained	-	NC_000014.9:g.94768558G>T	ExAC,gnomAD
rs759761613	p.Ser236Leu	missense variant	-	NC_000014.9:g.94768558G>A	ExAC,gnomAD
rs1422472460	p.Ala240Val	missense variant	-	NC_000014.9:g.94768546G>A	NCI-TCGA
rs1422472460	p.Ala240Val	missense variant	-	NC_000014.9:g.94768546G>A	gnomAD
rs761213502	p.Ser241Ter	stop gained	-	NC_000014.9:g.94768543G>T	ExAC,gnomAD
rs1220834068	p.Pro242Ala	missense variant	-	NC_000014.9:g.94768541G>C	gnomAD
rs773813335	p.Glu246Asp	missense variant	-	NC_000014.9:g.94768527T>A	ExAC,gnomAD
rs773813335	p.Glu246Asp	missense variant	-	NC_000014.9:g.94768527T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu246Lys	missense variant	-	NC_000014.9:g.94768529C>T	NCI-TCGA
rs199891655	p.Glu247Asp	missense variant	-	NC_000014.9:g.94768524C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu247Asp	missense variant	-	NC_000014.9:g.94768524C>A	NCI-TCGA
rs1284191040	p.Glu248Asp	missense variant	-	NC_000014.9:g.94768521T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu248Ter	stop gained	-	NC_000014.9:g.94768523C>A	NCI-TCGA
rs748984329	p.Gly249Asp	missense variant	-	NC_000014.9:g.94768519C>T	ExAC,gnomAD
COSM3499480	p.Lys250Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94768516T>C	NCI-TCGA Cosmic
rs1344067407	p.Ser251Asn	missense variant	-	NC_000014.9:g.94768513C>T	gnomAD
rs780023183	p.Asp252Tyr	missense variant	-	NC_000014.9:g.94768511C>A	ExAC,TOPMed,gnomAD
rs1443629216	p.Leu253Trp	missense variant	-	NC_000014.9:g.94768507A>C	gnomAD
COSM1323312	p.Leu253Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94768506C>G	NCI-TCGA Cosmic
rs1485930466	p.Asp254Gly	missense variant	-	NC_000014.9:g.94768504T>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0009081	Congenital clubfoot	disease	HPO
C0009917	Contracture	group	HPO
C0009918	Contracture of joint	phenotype	HPO
C0010417	Cryptorchidism	disease	HPO
C0014306	Enophthalmos	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018777	Conductive hearing loss	disease	HPO
C0019208	Hepatoma, Novikoff	disease	BEFREE
C0019554	Hip Dislocation	phenotype	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026034	Microstomia	disease	HPO
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0040034	Thrombocytopenia	phenotype	BEFREE
C0152423	Congenital small ears	disease	BEFREE
C0232466	Feeding difficulties	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0265563	Congenital dislocation of radial head	disease	HPO
C0266258	Congenital absence of liver	disease	BEFREE
C0266610	Preauricular dimple	disease	HPO
C0266625	Congenital preauricular sinus	disease	HPO
C0268621	Hepatic methionine adenosyltransferase deficiency	disease	BEFREE
C0270972	Cornelia De Lange Syndrome	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0333068	Flexion contracture	phenotype	HPO
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423224	Sunken eyes	phenotype	HPO
C0424711	Orbital separation diminished	phenotype	HPO
C0546969	Preauricular Fistulae, Congenital	disease	HPO
C0555198	Malignant Glioma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1306341	Mental handicap	disease	BEFREE
C1398325	Absent auditory canals	disease	HPO
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1832117	Short humerus	phenotype	HPO
C1840305	Absent external auditory canals	phenotype	HPO
C1846434	Hypoplastic scapulae	phenotype	HPO
C1850530	Flexion contractures of joints	phenotype	HPO
C1857079	Atretic auditory canal	disease	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1865361	SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES	disease	BEFREE;CLINVAR;ORPHANET
C1865362	Scapulohumeral synostosis	phenotype	HPO
C1865363	Delayed ossification of pubic rami	phenotype	HPO
C1866190	Atresia of the external auditory canal	phenotype	HPO
C1866730	Rhizomelia	disease	HPO
C2239176	Liver carcinoma	disease	BEFREE
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001085	RNA polymerase II transcription factor binding	ISS
GO:0001103	RNA polymerase II repressing transcription factor binding	ISS
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0007369	gastrulation	NAS
GO:0014036	neural crest cell fate specification	IMP
GO:0021904	dorsal/ventral neural tube patterning	IEA
GO:0023019	signal transduction involved in regulation of gene expression	IEA
GO:0030178	negative regulation of Wnt signaling pathway	IEA
GO:0030900	forebrain development	IEA
GO:0042474	middle ear morphogenesis	ISS
GO:0048644	muscle organ morphogenesis	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005667	transcription factor complex	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C032642	4-aminophenylarsenoxide	4-aminophenylarsenoxide binds to GSC protein	26598702
C032642	4-aminophenylarsenoxide	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to GSC protein]	26598702
D000082	Acetaminophen	Acetaminophen affects the expression of GSC mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of GSC gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of GSC polyA tail	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GSC mRNA	16483693
D000935	Antifungal Agents	Antifungal Agents results in decreased expression of GSC mRNA	21254369
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of GSC mRNA	24449571
D001151	Arsenic	Arsenic results in increased methylation of GSC promoter	21291286
D000077237	Arsenic Trioxide	Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to GSC protein]	26598702
C015001	arsenite	arsenite results in increased methylation of GSC promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of GSC polyA tail	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of GSC mRNA	30659931
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of GSC polyA tail	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of GSC mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of GSC promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased methylation of GSC promoter	27312807
C006780	bisphenol A	bisphenol A results in increased expression of GSC mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of GSC mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of GSC mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of GSC mRNA	26079696
D000431	Ethanol	Ethanol results in increased expression of GSC mRNA	23378141
D000431	Ethanol	Folic Acid inhibits the reaction [Ethanol results in increased expression of GSC mRNA]	23378141
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GSC mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GSC mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of GSC mRNA	23129252
D005492	Folic Acid	Folic Acid inhibits the reaction [Ethanol results in increased expression of GSC mRNA]	23378141
D004397	Fonofos	Fonofos results in increased methylation of GSC promoter	22847954
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of GSC mRNA	17506889
D008701	Methapyrilene	Methapyrilene results in increased methylation of GSC polyA tail	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of GSC mRNA	26011545
D008803	Mianserin	Mianserin results in decreased expression of GSC mRNA	24154490
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of GSC mRNA	19162170
D009534	Niclosamide	Niclosamide results in decreased expression of GSC mRNA	31398420
D010278	Parathion	Parathion results in increased methylation of GSC promoter	22847954
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of GSC mRNA	24642059
C046012	pentanal	pentanal results in increased expression of GSC mRNA	26079696
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of GSC mRNA	23602845
D010936	Plant Extracts	Plant Extracts results in decreased expression of GSC mRNA	23557933
C012568	terbufos	terbufos results in increased methylation of GSC promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GSC mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GSC mRNA	17942748
D014212	Tretinoin	Tretinoin results in increased expression of GSC mRNA	18230668
D014212	Tretinoin	Tretinoin results in decreased expression of GSC mRNA	23724009
C032910	triadimefon	triadimefon results in decreased expression of GSC mRNA	21254369
C032910	triadimefon	triadimefon results in decreased expression of GSC mRNA	21594970
C032910	triadimefon	triadimefon results in decreased expression of GSC protein	15992940
C012589	trichostatin A	trichostatin A results in increased expression of GSC mRNA	15901671
D014260	Triclosan	Triclosan results in decreased expression of GSC mRNA	29596926
D014635	Valproic Acid	Valproic Acid affects the expression of GSC mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of GSC mRNA	23527032
D014635	Valproic Acid	Valproic Acid results in increased expression of GSC mRNA	15901671
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in decreased expression of GSC mRNA	23063069
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of GSC mRNA	17506889

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0242	Dwarfism
KW-0371	Homeobox
KW-0539	Nucleus
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain

Gene: GSC

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