CleftGeneDB-Search

Gene: HAND1

Basic information

Tag	Content
Uniprot ID	O96004
Entrez ID	9421
Genbank protein ID	AAH21190.1; AAD19283.1; AAD19280.1;
Genbank nucleotide ID	NM_004821.2
Ensembl protein ID	ENSP00000231121
Ensembl nucleotide ID	ENSG00000113196
Gene name	Heart- and neural crest derivatives-expressed protein 1
Gene symbol	HAND1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Acts as a transcriptional repressor of SOX15 (By similarity). In the adult, could be required for ongoing expression of cardiac-specific genes (PubMed:9931445).
Sequence	MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG 60 PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP KKERRRTESI NSAFAELREC 120 IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQSGDPE AFKAELKKAD GGRESKRKRE 180 LQQHEGFPPA LGPVEKRIKG RTGWPQQVWA LELNQ 215

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	Species	Evidence	Details
1:1 ortholog	HAND1	517952	Q0VCE2		Bos taurus	Prediction	More>>
1:1 ortholog	HAND1	489164	E2RPA0		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	HAND1	102172808	A0A452DNX2		Capra hircus	Prediction	More>>
1:1 ortholog	HAND1	9421	O96004		Homo sapiens	Prediction	More>>
1:1 ortholog	Hand1	15110	Q64279	CPO	Mus musculus	Publication	More>>
1:1 ortholog	HAND1	462209	H2QRV2		Pan troglodytes	Prediction	More>>
1:1 ortholog	HAND1		A0A287ACN5		Sus scrofa	Prediction	More>>
1:1 ortholog	HAND1	100009575	G1T0L8		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Hand1	59112	P97832		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1354473345	p.Asn2Asp	missense variant	-	NC_000005.10:g.154478005T>C	TOPMed,gnomAD
rs1299508908	p.Leu3Val	missense variant	-	NC_000005.10:g.154478002G>C	TOPMed
rs767528053	p.Val4Met	missense variant	-	NC_000005.10:g.154477999C>T	ExAC,gnomAD
rs1460357937	p.Gly5Asp	missense variant	-	NC_000005.10:g.154477995C>T	gnomAD
rs1397025136	p.Gly5Arg	missense variant	-	NC_000005.10:g.154477996C>G	TOPMed
rs762997931	p.Ser6Arg	missense variant	-	NC_000005.10:g.154477991G>C	ExAC,gnomAD
rs371033200	p.Ala8Thr	missense variant	-	NC_000005.10:g.154477987C>T	ESP,ExAC,TOPMed,gnomAD
rs371033200	p.Ala8Ser	missense variant	-	NC_000005.10:g.154477987C>A	NCI-TCGA
rs371033200	p.Ala8Ser	missense variant	-	NC_000005.10:g.154477987C>A	ESP,ExAC,TOPMed,gnomAD
rs1478174885	p.His9Tyr	missense variant	-	NC_000005.10:g.154477984G>A	gnomAD
rs570134327	p.His12Tyr	missense variant	-	NC_000005.10:g.154477975G>A	1000Genomes,gnomAD
rs769999347	p.His13Tyr	missense variant	-	NC_000005.10:g.154477972G>A	ExAC,TOPMed,gnomAD
rs1054562820	p.His13Leu	missense variant	-	NC_000005.10:g.154477971T>A	TOPMed,gnomAD
rs1316132356	p.His14Arg	missense variant	-	NC_000005.10:g.154477968T>C	TOPMed
rs200556971	p.Pro16Thr	missense variant	-	NC_000005.10:g.154477963G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His17Asp	missense variant	-	NC_000005.10:g.154477960G>C	NCI-TCGA
rs768925214	p.His17Tyr	missense variant	-	NC_000005.10:g.154477960G>A	ExAC,gnomAD
rs1333509227	p.Pro18Thr	missense variant	-	NC_000005.10:g.154477957G>T	gnomAD
rs747513609	p.Ala19Gly	missense variant	-	NC_000005.10:g.154477953G>C	ExAC,gnomAD
rs1355879284	p.His20Gln	missense variant	-	NC_000005.10:g.154477949G>T	gnomAD
rs780396101	p.Pro21Leu	missense variant	-	NC_000005.10:g.154477947G>A	ExAC,TOPMed,gnomAD
rs780396101	p.Pro21Arg	missense variant	-	NC_000005.10:g.154477947G>C	ExAC,TOPMed,gnomAD
rs1270137702	p.Met22Val	missense variant	-	NC_000005.10:g.154477945T>C	TOPMed
rs1389429025	p.Leu23Val	missense variant	-	NC_000005.10:g.154477942G>C	gnomAD
rs772757234	p.His24Arg	missense variant	-	NC_000005.10:g.154477938T>C	ExAC,TOPMed,gnomAD
rs1398607391	p.His24Tyr	missense variant	-	NC_000005.10:g.154477939G>A	gnomAD
rs745362462	p.Glu25Lys	missense variant	-	NC_000005.10:g.154477936C>T	ExAC,gnomAD
rs1261908051	p.Pro26Leu	missense variant	-	NC_000005.10:g.154477932G>A	TOPMed
rs528298246	p.Pro26Ser	missense variant	-	NC_000005.10:g.154477933G>A	1000Genomes,ExAC,gnomAD
rs756908501	p.Phe29Leu	missense variant	-	NC_000005.10:g.154477922G>T	ExAC,gnomAD
rs753450334	p.Gly30Ser	missense variant	-	NC_000005.10:g.154477921C>T	ExAC,TOPMed,gnomAD
rs753450334	p.Gly30Arg	missense variant	-	NC_000005.10:g.154477921C>G	ExAC,TOPMed,gnomAD
rs753450334	p.Gly30Ser	missense variant	-	NC_000005.10:g.154477921C>T	NCI-TCGA,NCI-TCGA Cosmic
rs777581629	p.Pro31Gln	missense variant	-	NC_000005.10:g.154477917G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro31Thr	missense variant	-	NC_000005.10:g.154477918G>T	NCI-TCGA
NCI-TCGA novel	p.Ser33Trp	missense variant	-	NC_000005.10:g.154477911G>C	NCI-TCGA
NCI-TCGA novel	p.Ser33Leu	missense variant	-	NC_000005.10:g.154477911G>A	NCI-TCGA
NCI-TCGA novel	p.Arg34His	missense variant	-	NC_000005.10:g.154477908C>T	NCI-TCGA
rs1253357213	p.Arg34Leu	missense variant	-	NC_000005.10:g.154477908C>A	gnomAD
rs1199817968	p.His36Arg	missense variant	-	NC_000005.10:g.154477902T>C	gnomAD
rs533319519	p.Gln37Arg	missense variant	-	NC_000005.10:g.154477899T>C	1000Genomes,ExAC,gnomAD
rs759535790	p.Gln37His	missense variant	-	NC_000005.10:g.154477898C>G	ExAC,TOPMed
rs564241048	p.Tyr41Cys	missense variant	-	NC_000005.10:g.154477887T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs564241048	p.Tyr41Cys	missense variant	-	NC_000005.10:g.154477887T>C	NCI-TCGA,NCI-TCGA Cosmic
rs564241048	p.Tyr41Ser	missense variant	-	NC_000005.10:g.154477887T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs776751181	p.Phe42Leu	missense variant	-	NC_000005.10:g.154477883G>C	ExAC,gnomAD
rs762046238	p.Phe42Leu	missense variant	-	NC_000005.10:g.154477885A>G	ExAC,gnomAD
rs768965463	p.Gln43Arg	missense variant	-	NC_000005.10:g.154477881T>C	ExAC,TOPMed,gnomAD
rs1297503043	p.Ser44Thr	missense variant	-	NC_000005.10:g.154477878C>G	TOPMed
rs145232171	p.Ser44Arg	missense variant	-	NC_000005.10:g.154477877G>C	ESP,ExAC,TOPMed,gnomAD
rs141689288	p.Trp45Ser	missense variant	-	NC_000005.10:g.154477875C>G	ESP,TOPMed,gnomAD
rs1296594232	p.Trp45Gly	missense variant	-	NC_000005.10:g.154477876A>C	TOPMed
rs772706064	p.Trp45Cys	missense variant	-	NC_000005.10:g.154477874C>A	ExAC,TOPMed,gnomAD
rs746385291	p.Leu46Met	missense variant	-	NC_000005.10:g.154477873G>T	ExAC,gnomAD
rs778513187	p.Ser48Gly	missense variant	-	NC_000005.10:g.154477867T>C	ExAC,gnomAD
rs770592263	p.Ser48Arg	missense variant	-	NC_000005.10:g.154477865G>T	ExAC,TOPMed,gnomAD
rs770592263	p.Ser48Arg	missense variant	-	NC_000005.10:g.154477865G>C	ExAC,TOPMed,gnomAD
rs1463053457	p.Pro49Ser	missense variant	-	NC_000005.10:g.154477864G>A	gnomAD
rs748866943	p.Pro49Arg	missense variant	-	NC_000005.10:g.154477863G>C	ExAC,TOPMed,gnomAD
rs1468987419	p.Ala50Thr	missense variant	-	NC_000005.10:g.154477861C>T	gnomAD
rs1468987419	p.Ala50Pro	missense variant	-	NC_000005.10:g.154477861C>G	gnomAD
rs1365842411	p.Asp51Val	missense variant	-	NC_000005.10:g.154477857T>A	TOPMed,gnomAD
rs777266765	p.Ala52Thr	missense variant	-	NC_000005.10:g.154477855C>T	ExAC,gnomAD
rs1251644234	p.Ala53Val	missense variant	-	NC_000005.10:g.154477851G>A	TOPMed,gnomAD
rs1454187248	p.Ala53Thr	missense variant	-	NC_000005.10:g.154477852C>T	gnomAD
rs780969396	p.Pro54Leu	missense variant	-	NC_000005.10:g.154477848G>A	ExAC,gnomAD
rs780969396	p.Pro54Arg	missense variant	-	NC_000005.10:g.154477848G>C	ExAC,gnomAD
rs1202928556	p.Phe56Leu	missense variant	-	NC_000005.10:g.154477841G>C	gnomAD
rs1346301899	p.Pro57Leu	missense variant	-	NC_000005.10:g.154477839G>A	gnomAD
rs1352583664	p.Ala58Ser	missense variant	-	NC_000005.10:g.154477837C>A	gnomAD
rs201496181	p.Ala58Glu	missense variant	-	NC_000005.10:g.154477836G>T	ExAC,TOPMed,gnomAD
rs201496181	p.Ala58Gly	missense variant	-	NC_000005.10:g.154477836G>C	ExAC,TOPMed,gnomAD
rs754000582	p.Gly59Ser	missense variant	-	NC_000005.10:g.154477834C>T	ExAC
rs202045612	p.Gly60Arg	missense variant	-	NC_000005.10:g.154477831C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761028320	p.Gly60Glu	missense variant	-	NC_000005.10:g.154477830C>T	ExAC,gnomAD
rs760076464	p.Pro61Leu	missense variant	-	NC_000005.10:g.154477827G>A	ExAC,TOPMed,gnomAD
rs760076464	p.Pro61Gln	missense variant	-	NC_000005.10:g.154477827G>T	ExAC,TOPMed,gnomAD
rs768012504	p.Pro61Ser	missense variant	-	NC_000005.10:g.154477828G>A	ExAC,gnomAD
rs768012504	p.Pro61Thr	missense variant	-	NC_000005.10:g.154477828G>T	ExAC,gnomAD
rs769262740	p.Pro63Leu	missense variant	-	NC_000005.10:g.154477821G>A	ExAC,gnomAD
rs772843786	p.Pro63Ser	missense variant	-	NC_000005.10:g.154477822G>A	ExAC,gnomAD
rs1196044769	p.Ala64Ser	missense variant	-	NC_000005.10:g.154477819C>A	gnomAD
rs1478071174	p.Ala65Gly	missense variant	-	NC_000005.10:g.154477815G>C	gnomAD
rs1190602578	p.Ala66Thr	missense variant	-	NC_000005.10:g.154477813C>T	gnomAD
rs1190602578	p.Ala66Ser	missense variant	-	NC_000005.10:g.154477813C>A	NCI-TCGA Cosmic
rs1190602578	p.Ala66Ser	missense variant	-	NC_000005.10:g.154477813C>A	gnomAD
rs780916501	p.Ala67Val	missense variant	-	NC_000005.10:g.154477809G>A	ExAC,gnomAD
rs374965548	p.Ala68Pro	missense variant	-	NC_000005.10:g.154477807C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1219669852	p.Ala69Asp	missense variant	-	NC_000005.10:g.154477803G>T	gnomAD
rs1282472466	p.Ala69Ser	missense variant	-	NC_000005.10:g.154477804C>A	gnomAD
rs1282472466	p.Ala69Thr	missense variant	-	NC_000005.10:g.154477804C>T	gnomAD
rs576059307	p.Thr70Pro	missense variant	-	NC_000005.10:g.154477801T>G	1000Genomes
rs758422053	p.Ala71Thr	missense variant	-	NC_000005.10:g.154477798C>T	ExAC,TOPMed,gnomAD
rs758422053	p.Ala71Ser	missense variant	-	NC_000005.10:g.154477798C>A	ExAC,TOPMed,gnomAD
rs764242373	p.Tyr72Cys	missense variant	-	NC_000005.10:g.154477794T>C	ExAC,gnomAD
rs756237060	p.Gly73Ser	missense variant	-	NC_000005.10:g.154477792C>T	ExAC,gnomAD
rs1217088770	p.Gly73Asp	missense variant	-	NC_000005.10:g.154477791C>T	TOPMed
rs752995620	p.Asp75Glu	missense variant	-	NC_000005.10:g.154477784G>T	ExAC,gnomAD
rs752995620	p.Asp75Glu	missense variant	-	NC_000005.10:g.154477784G>C	ExAC,gnomAD
rs767888040	p.Ala76Thr	missense variant	-	NC_000005.10:g.154477783C>T	ExAC,gnomAD
rs1373952727	p.Arg77Ser	missense variant	-	NC_000005.10:g.154477778C>A	gnomAD
rs1176090594	p.Gly79Arg	missense variant	-	NC_000005.10:g.154477774C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly79Trp	missense variant	-	NC_000005.10:g.154477774C>A	NCI-TCGA
rs1176090594	p.Gly79Arg	missense variant	-	NC_000005.10:g.154477774C>G	TOPMed,gnomAD
rs201037401	p.Gln80Arg	missense variant	-	NC_000005.10:g.154477770T>C	1000Genomes,ExAC
rs774910795	p.Gln80His	missense variant	-	NC_000005.10:g.154477769C>G	ExAC,gnomAD
rs763518945	p.Ser81Thr	missense variant	-	NC_000005.10:g.154477767C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser81Arg	missense variant	-	NC_000005.10:g.154477766G>C	NCI-TCGA
COSM1064728	p.Ser81Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477767C>T	NCI-TCGA Cosmic
rs766789740	p.Ser81Cys	missense variant	-	NC_000005.10:g.154477768T>A	ExAC,gnomAD
rs772538065	p.Pro82Leu	missense variant	-	NC_000005.10:g.154477764G>A	ExAC,TOPMed,gnomAD
rs201302313	p.Gly83Trp	missense variant	-	NC_000005.10:g.154477762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000473290	p.Gly83Trp	missense variant	Hypoplastic left heart syndrome 1 (HLHS1)	NC_000005.10:g.154477762C>A	ClinVar
rs1167066563	p.Arg84Trp	missense variant	-	NC_000005.10:g.154477759G>A	gnomAD
rs1177737621	p.Glu86Val	missense variant	-	NC_000005.10:g.154477752T>A	TOPMed
RCV000633472	p.Glu86Val	missense variant	Hypoplastic left heart syndrome (HLHS)	NC_000005.10:g.154477752T>A	ClinVar
NCI-TCGA novel	p.Leu88His	missense variant	-	NC_000005.10:g.154477746A>T	NCI-TCGA
rs369296058	p.Arg91Gly	missense variant	-	NC_000005.10:g.154477738G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1320086824	p.Arg91Leu	missense variant	-	NC_000005.10:g.154477737C>A	gnomAD
rs369296058	p.Arg91Ser	missense variant	-	NC_000005.10:g.154477738G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1353975436	p.Arg94Gln	missense variant	-	NC_000005.10:g.154477728C>T	gnomAD
rs1353975436	p.Arg94Gln	missense variant	-	NC_000005.10:g.154477728C>T	NCI-TCGA Cosmic
rs777670897	p.Arg94Trp	missense variant	-	NC_000005.10:g.154477729G>A	ExAC,gnomAD
rs752869371	p.Arg95Gln	missense variant	-	NC_000005.10:g.154477725C>T	ExAC,TOPMed,gnomAD
rs756183625	p.Arg95Trp	missense variant	-	NC_000005.10:g.154477726G>A	ExAC,gnomAD
rs572764589	p.Lys96Glu	missense variant	-	NC_000005.10:g.154477723T>C	1000Genomes,ExAC,gnomAD
RCV000232915	p.Gly97Cys	missense variant	Hypoplastic left heart syndrome 1 (HLHS1)	NC_000005.10:g.154477720C>A	ClinVar
rs878854746	p.Gly97Cys	missense variant	-	NC_000005.10:g.154477720C>A	-
rs751904421	p.Gly99Val	missense variant	-	NC_000005.10:g.154477713C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly99Ter	stop gained	-	NC_000005.10:g.154477714C>A	NCI-TCGA
rs751904421	p.Gly99Ala	missense variant	-	NC_000005.10:g.154477713C>G	ExAC,gnomAD
rs1419800202	p.Lys102Asn	missense variant	-	NC_000005.10:g.154477703C>G	gnomAD
COSM1064727	p.Lys102Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477704T>G	NCI-TCGA Cosmic
rs763319157	p.Lys102Glu	missense variant	-	NC_000005.10:g.154477705T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu103Val	missense variant	-	NC_000005.10:g.154477701T>A	NCI-TCGA
NCI-TCGA novel	p.Glu103Gln	missense variant	-	NC_000005.10:g.154477702C>G	NCI-TCGA
rs1182283102	p.Glu103Gly	missense variant	-	NC_000005.10:g.154477701T>C	TOPMed,gnomAD
COSM3853020	p.Arg106His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477692C>T	NCI-TCGA Cosmic
rs1206454242	p.Thr107Pro	missense variant	-	NC_000005.10:g.154477690T>G	TOPMed,gnomAD
rs1206454242	p.Thr107Ala	missense variant	-	NC_000005.10:g.154477690T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser109Asn	missense variant	-	NC_000005.10:g.154477683C>T	NCI-TCGA
rs905545828	p.Ile110Leu	missense variant	-	NC_000005.10:g.154477681T>G	TOPMed
rs761291470	p.Ser112Cys	missense variant	-	NC_000005.10:g.154477675T>A	ExAC,gnomAD
rs776179261	p.Ser112Arg	missense variant	-	NC_000005.10:g.154477673G>T	ExAC,TOPMed,gnomAD
COSM1064726	p.Ala113Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477672C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe114LeuPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.154477669_154477670insG	NCI-TCGA
rs774267927	p.Phe114Leu	missense variant	-	NC_000005.10:g.154477667G>T	gnomAD
COSM737127	p.Ala115Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477666C>A	NCI-TCGA Cosmic
rs536000696	p.Leu117Phe	missense variant	-	NC_000005.10:g.154477658C>A	1000Genomes,ExAC,gnomAD
rs1449580591	p.Arg118Leu	missense variant	-	NC_000005.10:g.154477656C>A	gnomAD
rs775093878	p.Glu119Asp	missense variant	-	NC_000005.10:g.154477652C>G	ExAC,TOPMed,gnomAD
rs1400422414	p.Glu119Ter	stop gained	-	NC_000005.10:g.154477654C>A	TOPMed,gnomAD
COSM1064725	p.Glu119Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477654C>T	NCI-TCGA Cosmic
rs1400422414	p.Glu119Gln	missense variant	-	NC_000005.10:g.154477654C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro122Thr	missense variant	-	NC_000005.10:g.154477645G>T	NCI-TCGA
NCI-TCGA novel	p.Pro122Ala	missense variant	-	NC_000005.10:g.154477645G>C	NCI-TCGA
rs1048063616	p.Pro122Arg	missense variant	-	NC_000005.10:g.154477644G>C	TOPMed
rs1481488405	p.Pro122Ser	missense variant	-	NC_000005.10:g.154477645G>A	TOPMed
rs1165033501	p.Asn123Lys	missense variant	-	NC_000005.10:g.154477640G>T	TOPMed,gnomAD
rs745686103	p.Val124Leu	missense variant	-	NC_000005.10:g.154477639C>A	ExAC,TOPMed,gnomAD
rs745686103	p.Val124Met	missense variant	-	NC_000005.10:g.154477639C>T	ExAC,TOPMed,gnomAD
rs1405443403	p.Pro125Leu	missense variant	-	NC_000005.10:g.154477635G>A	gnomAD
rs1440191810	p.Asp127Tyr	missense variant	-	NC_000005.10:g.154477630C>A	gnomAD
rs1467186459	p.Ile133Leu	missense variant	-	NC_000005.10:g.154477612T>G	gnomAD
NCI-TCGA novel	p.Ile133Met	missense variant	-	NC_000005.10:g.154477610G>C	NCI-TCGA
rs974646425	p.Lys134Ter	stop gained	-	NC_000005.10:g.154477609T>A	TOPMed,gnomAD
rs1222504650	p.Lys134Arg	missense variant	-	NC_000005.10:g.154477608T>C	gnomAD
rs765936211	p.Leu136AlaPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.154477602_154477603AG>-	NCI-TCGA
rs374536409	p.Arg137Leu	missense variant	-	NC_000005.10:g.154477599C>A	ESP,ExAC,TOPMed,gnomAD
rs374536409	p.Arg137His	missense variant	-	NC_000005.10:g.154477599C>T	ESP,ExAC,TOPMed,gnomAD
rs374536409	p.Arg137His	missense variant	-	NC_000005.10:g.154477599C>T	NCI-TCGA,NCI-TCGA Cosmic
rs771047758	p.Arg137Ser	missense variant	-	NC_000005.10:g.154477600G>T	ExAC,gnomAD
rs755192128	p.Thr140Ala	missense variant	-	NC_000005.10:g.154477591T>C	ExAC,gnomAD
rs1378346540	p.Thr140Asn	missense variant	-	NC_000005.10:g.154477590G>T	gnomAD
rs1303293556	p.Ser141Asn	missense variant	-	NC_000005.10:g.154477587C>T	gnomAD
COSM1435414	p.Tyr142Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477585A>C	NCI-TCGA Cosmic
rs140560109	p.Ala144Ser	missense variant	-	NC_000005.10:g.154477579C>A	ESP,ExAC,TOPMed,gnomAD
rs140560109	p.Ala144Thr	missense variant	-	NC_000005.10:g.154477579C>T	ESP,ExAC,TOPMed,gnomAD
rs750803617	p.Asp148Gly	missense variant	-	NC_000005.10:g.154477566T>C	ExAC,gnomAD
rs1452539216	p.Asp148Glu	missense variant	-	NC_000005.10:g.154477565G>T	gnomAD
rs1270361699	p.Val149Leu	missense variant	-	NC_000005.10:g.154477564C>A	TOPMed
rs762375465	p.Lys152Glu	missense variant	-	NC_000005.10:g.154477555T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser156Phe	missense variant	-	NC_000005.10:g.154477542G>A	NCI-TCGA
rs1191667279	p.Pro159Leu	missense variant	-	NC_000005.10:g.154477533G>A	gnomAD
rs987403652	p.Glu160Gly	missense variant	-	NC_000005.10:g.154477530T>C	TOPMed,gnomAD
rs1269484400	p.Ala161Val	missense variant	-	NC_000005.10:g.154477527G>A	gnomAD
rs1192017843	p.Phe162Leu	missense variant	-	NC_000005.10:g.154477525A>G	gnomAD
rs1269763181	p.Lys163Gln	missense variant	-	NC_000005.10:g.154477522T>G	TOPMed
rs202139442	p.Lys167Arg	missense variant	-	NC_000005.10:g.154477509T>C	ExAC,TOPMed,gnomAD
rs1240546642	p.Lys167Gln	missense variant	-	NC_000005.10:g.154477510T>G	gnomAD
rs202139442	p.Lys167Met	missense variant	-	NC_000005.10:g.154477509T>A	ExAC,TOPMed,gnomAD
rs1327129838	p.Lys168Ter	stop gained	-	NC_000005.10:g.154477507T>A	gnomAD
rs201984942	p.Gly171Asp	missense variant	-	NC_000005.10:g.154477497C>T	1000Genomes,ExAC
rs1166385384	p.Gly172Cys	missense variant	-	NC_000005.10:g.154477495C>A	TOPMed
rs1313460396	p.Arg173Ser	missense variant	-	NC_000005.10:g.154477492G>T	TOPMed,gnomAD
rs1313460396	p.Arg173Cys	missense variant	-	NC_000005.10:g.154477492G>A	NCI-TCGA Cosmic
rs146912397	p.Arg173Leu	missense variant	-	NC_000005.10:g.154477491C>A	ESP,ExAC,TOPMed,gnomAD
rs146912397	p.Arg173His	missense variant	-	NC_000005.10:g.154477491C>T	ESP,ExAC,TOPMed,gnomAD
rs1313460396	p.Arg173Cys	missense variant	-	NC_000005.10:g.154477492G>A	TOPMed,gnomAD
rs781370812	p.Glu174Gly	missense variant	-	NC_000005.10:g.154477488T>C	ExAC,gnomAD
rs1164568199	p.Ser175Asn	missense variant	-	NC_000005.10:g.154477485C>T	NCI-TCGA Cosmic
rs1164568199	p.Ser175Asn	missense variant	-	NC_000005.10:g.154477485C>T	TOPMed
rs768888751	p.Arg177Trp	missense variant	-	NC_000005.10:g.154477480G>A	ExAC,gnomAD
rs747099689	p.Arg177Leu	missense variant	-	NC_000005.10:g.154477479C>A	ExAC
rs747099689	p.Arg177Gln	missense variant	-	NC_000005.10:g.154477479C>T	NCI-TCGA
rs747099689	p.Arg177Gln	missense variant	-	NC_000005.10:g.154477479C>T	ExAC
rs1333755459	p.Gln182Lys	missense variant	-	NC_000005.10:g.154475910G>T	gnomAD
NCI-TCGA novel	p.Gln182Arg	missense variant	-	NC_000005.10:g.154475909T>C	NCI-TCGA
rs1246794989	p.His184Leu	missense variant	-	NC_000005.10:g.154475903T>A	gnomAD
rs1340776953	p.Gly186Asp	missense variant	-	NC_000005.10:g.154475897C>T	gnomAD
rs929460819	p.Pro188Ala	missense variant	-	NC_000005.10:g.154475892G>C	TOPMed
rs1389554299	p.Pro189Ser	missense variant	-	NC_000005.10:g.154475889G>A	gnomAD
rs147677474	p.Pro189Leu	missense variant	-	NC_000005.10:g.154475888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778198835	p.Ala190Ser	missense variant	-	NC_000005.10:g.154475886C>A	ExAC,gnomAD
rs756586663	p.Ala190Val	missense variant	-	NC_000005.10:g.154475885G>A	ExAC,gnomAD
rs373277337	p.Val194Ala	missense variant	-	NC_000005.10:g.154475873A>G	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Glu195Lys	missense variant	-	NC_000005.10:g.154475871C>T	NCI-TCGA
rs762914657	p.Glu195Gln	missense variant	-	NC_000005.10:g.154475871C>G	gnomAD
rs878854747	p.Lys196Arg	missense variant	-	NC_000005.10:g.154475867T>C	-
RCV000227604	p.Lys196Arg	missense variant	Hypoplastic left heart syndrome 1 (HLHS1)	NC_000005.10:g.154475867T>C	ClinVar
rs754637839	p.Lys199Gln	missense variant	-	NC_000005.10:g.154475859T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly200Arg	missense variant	-	NC_000005.10:g.154475856C>T	NCI-TCGA
rs751211164	p.Gly200Glu	missense variant	-	NC_000005.10:g.154475855C>T	ExAC,gnomAD
COSM1435413	p.Arg201Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154475853G>A	NCI-TCGA Cosmic
rs766161267	p.Thr202Ser	missense variant	-	NC_000005.10:g.154475849G>C	ExAC,gnomAD
rs762786810	p.Gly203Ala	missense variant	-	NC_000005.10:g.154475846C>G	ExAC,gnomAD
rs1439266037	p.Pro205Thr	missense variant	-	NC_000005.10:g.154475841G>T	TOPMed,gnomAD
rs765198552	p.Pro205Gln	missense variant	-	NC_000005.10:g.154475840G>T	ExAC,gnomAD
COSM3612891	p.Gln207Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.154475835G>A	NCI-TCGA Cosmic
rs772091154	p.Val208Leu	missense variant	-	NC_000005.10:g.154475832C>G	ExAC,gnomAD
rs746068193	p.Ala210Glu	missense variant	-	NC_000005.10:g.154475825G>T	ExAC,gnomAD
rs746068193	p.Ala210Val	missense variant	-	NC_000005.10:g.154475825G>A	NCI-TCGA
rs746068193	p.Ala210Val	missense variant	-	NC_000005.10:g.154475825G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln215Lys	missense variant	-	NC_000005.10:g.154475811G>T	NCI-TCGA
rs985784176	p.Gln215Arg	missense variant	-	NC_000005.10:g.154475810T>C	TOPMed
rs771160670	p.Gln215Ter	stop gained	-	NC_000005.10:g.154475811G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007193	Cardiomyopathy, Dilated	group	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0013069	Double Outlet Right Ventricle	disease	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE
C0018799	Heart Diseases	group	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0018816	Heart Septal Defects	group	BEFREE
C0018818	Ventricular Septal Defects	group	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0027149	Myxoma	disease	BEFREE
C0032343	Poisoning	group	CTD_human
C0039685	Tetralogy of Fallot	disease	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0152101	Hypoplastic Left Heart Syndrome	disease	BEFREE
C0340427	Familial dilated cardiomyopathy	disease	BEFREE
C0349782	Ischemic cardiomyopathy	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678807	prenatal alcohol exposure	phenotype	PSYGENET
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0878544	Cardiomyopathies	group	BEFREE
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1848587	Isolated hypoplasia of the right ventricle	disease	BEFREE
C2931480	Neurofibromatosis, Type 3, mixed central and peripheral	disease	BEFREE
C4049796	Abnormality of cardiovascular system morphology	disease	BEFREE

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	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA
GO:0003713	transcription coactivator activity	IEA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IPI
GO:0019899	enzyme binding	IEA
GO:0042802	identical protein binding	ISS
GO:0042803	protein homodimerization activity	IEA
GO:0043425	bHLH transcription factor binding	IPI
GO:0044212	transcription regulatory region DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001525	angiogenesis	ISS
GO:0001707	mesoderm formation	IEA
GO:0001824	blastocyst development	IEP
GO:0001829	trophectodermal cell differentiation	IEP
GO:0001947	heart looping	ISS
GO:0003144	embryonic heart tube formation	IEA
GO:0003218	cardiac left ventricle formation	IMP
GO:0003219	cardiac right ventricle formation	IMP
GO:0006366	transcription by RNA polymerase II	IDA
GO:0007507	heart development	ISS
GO:0035050	embryonic heart tube development	ISS
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP
GO:0060411	cardiac septum morphogenesis	IMP
GO:0060485	mesenchyme development	IEA
GO:0060536	cartilage morphogenesis	IEA
GO:0060707	trophoblast giant cell differentiation	ISS
GO:1903026	negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IEA
GO:0005730	nucleolus	IEA
GO:0005737	cytoplasm	IDA
GO:0090575	RNA polymerase II transcription factor complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of HAND1 mRNA	27291303
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of HAND1 mRNA	19114083
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 HAND1 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 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 HAND1 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 HAND1 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 HAND1 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 HAND1 mRNA	27188386
C496492	abrine	abrine results in increased expression of HAND1 mRNA	31054353
D000438	Alcohols	Alcohols promotes the reaction [Vorinostat results in increased expression of HAND1 mRNA]	24857828
D000438	Alcohols	Alcohols results in increased expression of HAND1 mRNA	24857828
D000438	Alcohols	Curcumin inhibits the reaction [Alcohols results in increased expression of HAND1 mRNA]	24857828
D000438	Alcohols	Vorinostat promotes the reaction [Alcohols results in increased expression of HAND1 mRNA]	24857828
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of HAND1 mRNA	16483693
D001104	Arbutin	Arbutin results in increased expression of HAND1 mRNA	17103032
C015001	arsenite	arsenite results in increased methylation of HAND1 promoter	23974009
D001280	Atrazine	Atrazine results in decreased expression of HAND1 mRNA	29505797
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of HAND1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of HAND1 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of HAND1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of HAND1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of HAND1 mRNA	30951980
D003042	Cocaine	Cocaine affects the expression of HAND1 mRNA	20187946
D003474	Curcumin	Curcumin inhibits the reaction [Alcohols results in increased expression of HAND1 mRNA]	24857828
D003474	Curcumin	Curcumin results in decreased expression of HAND1 mRNA	24857828
D003561	Cytarabine	Cytarabine results in decreased expression of HAND1 mRNA	21198554
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of HAND1 mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of HAND1 mRNA	29505797
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide results in decreased expression of HAND1 mRNA	22105179
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide results in increased expression of HAND1 mRNA	22105179
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 HAND1 mRNA	27188386
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 HAND1 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 HAND1 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 HAND1 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 HAND1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of HAND1 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of HAND1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 HAND1 mRNA	27188386
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of HAND1 mRNA	23550701
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of HAND1 mRNA	23129252
D005472	Fluorouracil	TP53 protein affects the reaction [Fluorouracil results in decreased expression of HAND1 mRNA]	15016801
C069837	fullerene C60	fullerene C60 results in decreased expression of HAND1 mRNA	19167457
C011890	kojic acid	kojic acid results in increased expression of HAND1 mRNA	16595896
D000077339	Leflunomide	Leflunomide results in increased expression of HAND1 mRNA	28988120
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 HAND1 mRNA	27188386
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of HAND1 mRNA	23179753
C028007	nickel monoxide	nickel monoxide results in decreased expression of HAND1 mRNA	19167457
D009538	Nicotine	Nicotine results in decreased expression of HAND1 mRNA	24368670
D009538	Nicotine	Nicotine results in decreased expression of HAND1 protein	24368670
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 HAND1 mRNA	27188386
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of HAND1 mRNA	23892564
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 HAND1 mRNA	27188386
D000077210	Sunitinib	Sunitinib results in decreased expression of HAND1 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HAND1 mRNA	26139165
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of HAND1 mRNA	24058054
D014212	Tretinoin	Tretinoin results in decreased expression of HAND1 mRNA	20488242
C011559	tributyltin	tributyltin results in decreased expression of HAND1 mRNA	29505797
D014241	Trichloroethylene	Trichloroethylene results in increased expression of HAND1 mRNA	25847060
C012589	trichostatin A	trichostatin A results in decreased expression of HAND1 mRNA	15901671
D014260	Triclosan	Triclosan results in increased expression of HAND1 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 HAND1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of HAND1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of HAND1 mRNA	23527032; 24383497; 26272509;
D014635	Valproic Acid	Valproic Acid results in decreased expression of HAND1 mRNA	15901671
D000077337	Vorinostat	Alcohols promotes the reaction [Vorinostat results in increased expression of HAND1 mRNA]	24857828
D000077337	Vorinostat	Vorinostat promotes the reaction [Alcohols results in increased expression of HAND1 mRNA]	24857828
D000077337	Vorinostat	Vorinostat results in increased expression of HAND1 mRNA	24857828

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR011598	bHLH_dom
IPR036638	HLH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS50888	BHLH

Pfam

Pfam ID	Pfam Term
PF00010	HLH

Gene: HAND1

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

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