CleftGeneDB-Search

Gene: HAND2

Basic information

Tag	Content
Uniprot ID	P61296; B6ECG9; O95300; O95301; P97833; Q494T1;
Entrez ID	9464
Genbank protein ID	AAI01407.1; AAD13186.1; AAD13185.1; EAX04749.1; ACI42790.1;
Genbank nucleotide ID	NM_021973.2
Ensembl protein ID	ENSP00000352565
Ensembl nucleotide ID	ENSG00000164107
Gene name	Heart- and neural crest derivatives-expressed protein 2
Gene symbol	HAND2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the head and neck. Binds DNA on E-box consensus sequence 5'-CANNTG-3' (By similarity).
Sequence	MSLVGGFPHH PVVHHEGYPF AAAAAAAAAA AASRCSHEEN PYFHGWLIGH PEMSPPDYSM 60 ALSYSPEYAS GAAGLDHSHY GGVPPGAGPP GLGGPRPVKR RGTANRKERR RTQSINSAFA 120 ELRECIPNVP ADTKLSKIKT LRLATSYIAY LMDLLAKDDQ NGEAEAFKAE IKKTDVKEEK 180 RKKELNEILK STVSSNDKKT KGRTGWPQHV WALELKQ 217

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	HAND2	102171973	A0A452ECE7			Capra hircus	Prediction	More>>
1:1 ortholog	HAND2	9464	P61296			Homo sapiens	Prediction	More>>
1:1 ortholog	Hand2	15111	Q61039	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	HAND2	741581	H2R7W4			Pan troglodytes	Prediction	More>>
1:1 ortholog	HAND2		A0A287BKC6			Sus scrofa	Prediction	More>>
1:1 ortholog	Hand2		A0A0G2K7Q4			Rattus norvegicus	Prediction	More>>
1:1 ortholog	hand2	58150	A2BDM6			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs550068906	p.Gly5Ser	missense variant	-	NC_000004.12:g.173529277C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs905723042	p.Pro8Ser	missense variant	-	NC_000004.12:g.173529268G>A	TOPMed,gnomAD
rs896779887	p.His10Gln	missense variant	-	NC_000004.12:g.173529260G>C	TOPMed,gnomAD
NCI-TCGA novel	p.His14Arg	missense variant	-	NC_000004.12:g.173529249T>C	NCI-TCGA
rs774429970	p.Pro19Ala	missense variant	-	NC_000004.12:g.173529235G>C	ExAC,gnomAD
rs1439012129	p.Ala21Val	missense variant	-	NC_000004.12:g.173529228G>A	TOPMed
rs567960889	p.Ala21Thr	missense variant	-	NC_000004.12:g.173529229C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs867226231	p.Ala22Pro	missense variant	-	NC_000004.12:g.173529226C>G	TOPMed,gnomAD
rs867226231	p.Ala22Thr	missense variant	-	NC_000004.12:g.173529226C>T	TOPMed,gnomAD
rs1332467249	p.Ala22Gly	missense variant	-	NC_000004.12:g.173529225G>C	TOPMed,gnomAD
COSM4648777	p.Ala23Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529223C>T	NCI-TCGA Cosmic
rs1429239453	p.Ala23Val	missense variant	-	NC_000004.12:g.173529222G>A	gnomAD
rs1362459325	p.Ala28Val	missense variant	-	NC_000004.12:g.173529207G>A	gnomAD
rs754791452	p.Ala30Pro	missense variant	-	NC_000004.12:g.173529202C>G	ExAC,gnomAD
rs1365269294	p.Ser33Arg	missense variant	-	NC_000004.12:g.173529191G>C	TOPMed
rs979011359	p.Arg34Cys	missense variant	-	NC_000004.12:g.173529190G>A	TOPMed
rs979011359	p.Arg34Ser	missense variant	-	NC_000004.12:g.173529190G>T	TOPMed
rs547459770	p.Ser36Asn	missense variant	-	NC_000004.12:g.173529183C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1273179865	p.Glu38Gln	missense variant	-	NC_000004.12:g.173529178C>G	gnomAD
rs1292865331	p.Glu39Gly	missense variant	-	NC_000004.12:g.173529174T>C	gnomAD
rs1308700093	p.Glu39Lys	missense variant	-	NC_000004.12:g.173529175C>T	gnomAD
rs1277911492	p.Pro41Ser	missense variant	-	NC_000004.12:g.173529169G>A	TOPMed
rs1277911492	p.Pro41Ala	missense variant	-	NC_000004.12:g.173529169G>C	TOPMed
COSM3993551	p.Tyr42Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529166A>T	NCI-TCGA Cosmic
rs1358575528	p.Tyr42Cys	missense variant	-	NC_000004.12:g.173529165T>C	TOPMed
rs756686416	p.Phe43Ser	missense variant	-	NC_000004.12:g.173529162A>G	ExAC,gnomAD
rs756686416	p.Phe43Cys	missense variant	-	NC_000004.12:g.173529162A>C	ExAC,gnomAD
rs200710796	p.His44Arg	missense variant	-	NC_000004.12:g.173529159T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM733104	p.Gly45Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529157C>A	NCI-TCGA Cosmic
rs764644474	p.Ile48Leu	missense variant	-	NC_000004.12:g.173529148T>G	ExAC,gnomAD
NCI-TCGA novel	p.His50Asn	missense variant	-	NC_000004.12:g.173529142G>T	NCI-TCGA
rs1171360005	p.His50Tyr	missense variant	-	NC_000004.12:g.173529142G>A	gnomAD
COSM3602062	p.Pro55Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529126G>A	NCI-TCGA Cosmic
rs767645308	p.Pro55Ser	missense variant	-	NC_000004.12:g.173529127G>A	ExAC,TOPMed,gnomAD
rs1428082252	p.Pro56Leu	missense variant	-	NC_000004.12:g.173529123G>A	gnomAD
rs759859247	p.Asp57Asn	missense variant	-	NC_000004.12:g.173529121C>T	ExAC
rs774432570	p.Ser59Asn	missense variant	-	NC_000004.12:g.173529114C>T	ExAC,TOPMed,gnomAD
rs774432570	p.Ser59Thr	missense variant	-	NC_000004.12:g.173529114C>G	ExAC,TOPMed,gnomAD
rs1395977416	p.Ser59Arg	missense variant	-	NC_000004.12:g.173529115T>G	gnomAD
rs1467445458	p.Met60Val	missense variant	-	NC_000004.12:g.173529112T>C	gnomAD
rs1252893762	p.Met60Ile	missense variant	-	NC_000004.12:g.173529110C>A	gnomAD
rs1035725877	p.Leu62Arg	missense variant	-	NC_000004.12:g.173529105A>C	TOPMed,gnomAD
COSM3602061	p.Ser63Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529102G>A	NCI-TCGA Cosmic
rs771092361	p.Ser63Tyr	missense variant	-	NC_000004.12:g.173529102G>T	ExAC,TOPMed,gnomAD
rs771092361	p.Ser63Cys	missense variant	-	NC_000004.12:g.173529102G>C	ExAC,TOPMed,gnomAD
rs374157343	p.Tyr64Cys	missense variant	-	NC_000004.12:g.173529099T>C	ESP,TOPMed,gnomAD
rs749318216	p.Ser65Ile	missense variant	-	NC_000004.12:g.173529096C>A	ExAC,gnomAD
rs749318216	p.Ser65Thr	missense variant	-	NC_000004.12:g.173529096C>G	ExAC,gnomAD
RCV000656722	p.Glu67Ter	nonsense	Dilated cardiomyopathy 1A (CMD1A)	NC_000004.12:g.173529091C>A	ClinVar
rs1553974835	p.Glu67Ter	stop gained	-	NC_000004.12:g.173529091C>A	-
rs768515588	p.Ala69Asp	missense variant	-	NC_000004.12:g.173529084G>T	ExAC,TOPMed,gnomAD
rs779885625	p.Ala72Thr	missense variant	-	NC_000004.12:g.173529076C>T	ExAC,gnomAD
rs758127022	p.Ala72Val	missense variant	-	NC_000004.12:g.173529075G>A	ExAC,TOPMed,gnomAD
rs745578357	p.Ala73Thr	missense variant	-	NC_000004.12:g.173529073C>T	ExAC,gnomAD
rs1395886093	p.Ala73Val	missense variant	-	NC_000004.12:g.173529072G>A	TOPMed,gnomAD
rs778403813	p.Gly74Ser	missense variant	-	NC_000004.12:g.173529070C>T	ExAC,TOPMed,gnomAD
rs778403813	p.Gly74Cys	missense variant	-	NC_000004.12:g.173529070C>A	ExAC,TOPMed,gnomAD
rs1394789783	p.His79Arg	missense variant	-	NC_000004.12:g.173529054T>C	gnomAD
rs1394789783	p.His79Leu	missense variant	-	NC_000004.12:g.173529054T>A	gnomAD
rs753355279	p.Gly81Arg	missense variant	-	NC_000004.12:g.173529049C>T	ExAC,TOPMed,gnomAD
rs753355279	p.Gly81Arg	missense variant	-	NC_000004.12:g.173529049C>G	ExAC,TOPMed,gnomAD
rs753355279	p.Gly81Trp	missense variant	-	NC_000004.12:g.173529049C>A	ExAC,TOPMed,gnomAD
rs1194709906	p.Gly82Arg	missense variant	-	NC_000004.12:g.173529046C>T	gnomAD
COSM3336804	p.Val83CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.173529043C>-	NCI-TCGA Cosmic
rs756632787	p.Val83Leu	missense variant	-	NC_000004.12:g.173529043C>G	ExAC,TOPMed,gnomAD
rs756632787	p.Val83Met	missense variant	-	NC_000004.12:g.173529043C>T	ExAC,TOPMed,gnomAD
rs756632787	p.Val83Leu	missense variant	-	NC_000004.12:g.173529043C>A	ExAC,TOPMed,gnomAD
rs1346705580	p.Pro85Leu	missense variant	-	NC_000004.12:g.173529036G>A	gnomAD
rs1240987894	p.Gly86Ser	missense variant	-	NC_000004.12:g.173529034C>T	gnomAD
rs767992646	p.Gly86Ala	missense variant	-	NC_000004.12:g.173529033C>G	ExAC,TOPMed,gnomAD
rs759798066	p.Ala87Asp	missense variant	-	NC_000004.12:g.173529030G>T	ExAC,TOPMed,gnomAD
rs759798066	p.Ala87Val	missense variant	-	NC_000004.12:g.173529030G>A	ExAC,TOPMed,gnomAD
rs1306248326	p.Ala87Ser	missense variant	-	NC_000004.12:g.173529031C>A	TOPMed,gnomAD
rs932408458	p.Gly88Arg	missense variant	-	NC_000004.12:g.173529028C>T	TOPMed,gnomAD
rs932408458	p.Gly88Trp	missense variant	-	NC_000004.12:g.173529028C>A	TOPMed,gnomAD
rs1433031333	p.Pro89Ser	missense variant	-	NC_000004.12:g.173529025G>A	gnomAD
NCI-TCGA novel	p.Pro90Ser	missense variant	-	NC_000004.12:g.173529022G>A	NCI-TCGA
NCI-TCGA novel	p.Pro90ArgPheSerTerUnk	frameshift	-	NC_000004.12:g.173529021G>-	NCI-TCGA
rs766470524	p.Pro90Arg	missense variant	-	NC_000004.12:g.173529021G>C	ExAC,TOPMed,gnomAD
rs766470524	p.Pro90Leu	missense variant	-	NC_000004.12:g.173529021G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly91Cys	missense variant	-	NC_000004.12:g.173529019C>A	NCI-TCGA
rs769848533	p.Leu92Arg	missense variant	-	NC_000004.12:g.173529015A>C	ExAC,gnomAD
rs529197560	p.Gly93Arg	missense variant	-	NC_000004.12:g.173529013C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs529197560	p.Gly93Arg	missense variant	-	NC_000004.12:g.173529013C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1475839567	p.Gly93Ala	missense variant	-	NC_000004.12:g.173529012C>G	gnomAD
rs529197560	p.Gly93Trp	missense variant	-	NC_000004.12:g.173529013C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs140589459	p.Gly94Glu	missense variant	-	NC_000004.12:g.173529009C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140589459	p.Gly94Ala	missense variant	-	NC_000004.12:g.173529009C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140589459	p.Gly94Val	missense variant	-	NC_000004.12:g.173529009C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs970062302	p.Pro95Arg	missense variant	-	NC_000004.12:g.173529006G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro95ArgPheSerTerUnk	frameshift	-	NC_000004.12:g.173529008C>-	NCI-TCGA
rs970062302	p.Pro95Leu	missense variant	-	NC_000004.12:g.173529006G>A	TOPMed,gnomAD
rs970062302	p.Pro95Gln	missense variant	-	NC_000004.12:g.173529006G>T	TOPMed,gnomAD
rs75152023	p.Pro95Ala	missense variant	-	NC_000004.12:g.173529007G>C	ExAC,TOPMed,gnomAD
rs1284601345	p.Arg96Leu	missense variant	-	NC_000004.12:g.173529003C>A	gnomAD
rs751803965	p.Pro97Gln	missense variant	-	NC_000004.12:g.173529000G>T	ExAC,TOPMed,gnomAD
rs751803965	p.Pro97Arg	missense variant	-	NC_000004.12:g.173529000G>C	ExAC,TOPMed,gnomAD
rs763216425	p.Val98Leu	missense variant	-	NC_000004.12:g.173528998C>A	ExAC,gnomAD
rs897228645	p.Arg100His	missense variant	-	NC_000004.12:g.173528991C>T	gnomAD
rs1357304858	p.Arg100Cys	missense variant	-	NC_000004.12:g.173528992G>A	gnomAD
rs897228645	p.Arg100Pro	missense variant	-	NC_000004.12:g.173528991C>G	gnomAD
rs750637353	p.Arg101Gly	missense variant	-	NC_000004.12:g.173528989G>C	ExAC,gnomAD
COSM447613	p.Ala104Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528979G>T	NCI-TCGA Cosmic
rs761855385	p.Ala104Thr	missense variant	-	NC_000004.12:g.173528980C>T	ExAC,gnomAD
rs761855385	p.Ala104Ser	missense variant	-	NC_000004.12:g.173528980C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg106Cys	missense variant	-	NC_000004.12:g.173528974G>A	NCI-TCGA
rs1383210936	p.Arg106Ser	missense variant	-	NC_000004.12:g.173528974G>T	gnomAD
rs1383210936	p.Arg106Gly	missense variant	-	NC_000004.12:g.173528974G>C	gnomAD
NCI-TCGA novel	p.Arg110Cys	missense variant	-	NC_000004.12:g.173528962G>A	NCI-TCGA
NCI-TCGA novel	p.Gln113His	missense variant	-	NC_000004.12:g.173528951C>A	NCI-TCGA
rs771868475	p.Ser117Arg	missense variant	-	NC_000004.12:g.173528939G>T	ExAC,gnomAD
rs1420723364	p.Ser117Gly	missense variant	-	NC_000004.12:g.173528941T>C	gnomAD
rs1162160014	p.Ser117Asn	missense variant	-	NC_000004.12:g.173528940C>T	gnomAD
NCI-TCGA novel	p.Ala118Thr	missense variant	-	NC_000004.12:g.173528938C>T	NCI-TCGA
rs1429418429	p.Ala120Thr	missense variant	-	NC_000004.12:g.173528932C>T	gnomAD
COSM3602060	p.Glu121Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528927T>A	NCI-TCGA Cosmic
COSM1309904	p.Glu124Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528920C>G	NCI-TCGA Cosmic
rs770837533	p.Ile126Thr	missense variant	-	NC_000004.12:g.173528913A>G	ExAC,gnomAD
COSM4689463	p.Asn128ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.173528909G>-	NCI-TCGA Cosmic
rs199503638	p.Val129Leu	missense variant	-	NC_000004.12:g.173528905C>A	1000Genomes,ExAC,gnomAD
rs1355675033	p.Leu135Phe	missense variant	-	NC_000004.12:g.173528887G>A	gnomAD
NCI-TCGA novel	p.Ser136Phe	missense variant	-	NC_000004.12:g.173528883G>A	NCI-TCGA
rs1324921033	p.Lys139Arg	missense variant	-	NC_000004.12:g.173528874T>C	gnomAD
NCI-TCGA novel	p.Thr140Ala	missense variant	-	NC_000004.12:g.173528872T>C	NCI-TCGA
NCI-TCGA novel	p.Leu141Met	missense variant	-	NC_000004.12:g.173528869G>T	NCI-TCGA
COSM3729286	p.Arg142Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528866G>A	NCI-TCGA Cosmic
COSM586680	p.Arg142His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528865C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu143Met	missense variant	-	NC_000004.12:g.173528863G>T	NCI-TCGA
NCI-TCGA novel	p.Ala149Ser	missense variant	-	NC_000004.12:g.173528845C>A	NCI-TCGA
NCI-TCGA novel	p.Ala149Thr	missense variant	-	NC_000004.12:g.173528845C>T	NCI-TCGA
COSM6167019	p.Met152Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528834C>A	NCI-TCGA Cosmic
rs750688415	p.Asp153Gly	missense variant	-	NC_000004.12:g.173528832T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala156Val	missense variant	-	NC_000004.12:g.173528823G>A	NCI-TCGA
rs576414861	p.Ala156Ser	missense variant	-	NC_000004.12:g.173528824C>A	1000Genomes,ExAC,gnomAD
rs1372215619	p.Lys157Asn	missense variant	-	NC_000004.12:g.173528819C>A	gnomAD
rs767505770	p.Asp158Asn	missense variant	-	NC_000004.12:g.173528818C>T	ExAC,TOPMed,gnomAD
rs369169952	p.Asp159Tyr	missense variant	-	NC_000004.12:g.173528815C>A	ESP,ExAC,TOPMed,gnomAD
rs369169952	p.Asp159Asn	missense variant	-	NC_000004.12:g.173528815C>T	ESP,ExAC,TOPMed,gnomAD
rs1432074141	p.Asn161Lys	missense variant	-	NC_000004.12:g.173528807A>C	TOPMed
rs1212950364	p.Gly162Asp	missense variant	-	NC_000004.12:g.173528805C>T	gnomAD
rs932886269	p.Gly162Ser	missense variant	-	NC_000004.12:g.173528806C>T	TOPMed,gnomAD
rs1212950364	p.Gly162Ala	missense variant	-	NC_000004.12:g.173528805C>G	gnomAD
rs200277716	p.Glu163Gln	missense variant	-	NC_000004.12:g.173528803C>G	NCI-TCGA
rs980174389	p.Glu163Val	missense variant	-	NC_000004.12:g.173528802T>A	TOPMed
rs200277716	p.Glu163Gln	missense variant	-	NC_000004.12:g.173528803C>G	1000Genomes,ExAC,gnomAD
rs200277716	p.Glu163Ter	stop gained	-	NC_000004.12:g.173528803C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala164Val	missense variant	-	NC_000004.12:g.173528799G>A	NCI-TCGA
rs773029738	p.Glu165Lys	missense variant	-	NC_000004.12:g.173528797C>T	ExAC,gnomAD
rs1042697968	p.Ala166Asp	missense variant	-	NC_000004.12:g.173528793G>T	TOPMed
rs751134778	p.Ala166Thr	missense variant	-	NC_000004.12:g.173528794C>T	ExAC,TOPMed,gnomAD
rs1042697968	p.Ala166Gly	missense variant	-	NC_000004.12:g.173528793G>C	TOPMed
rs776061276	p.Lys168Asn	missense variant	-	NC_000004.12:g.173528786C>A	ExAC,TOPMed,gnomAD
rs776061276	p.Lys168Asn	missense variant	-	NC_000004.12:g.173528786C>A	NCI-TCGA
NCI-TCGA novel	p.Ala169GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000004.12:g.173528786_173528787insT	NCI-TCGA
rs1235452646	p.Ala169Val	missense variant	-	NC_000004.12:g.173528784G>A	gnomAD
rs1214669150	p.Glu170Lys	missense variant	-	NC_000004.12:g.173528782C>T	gnomAD
rs1214669150	p.Glu170Lys	missense variant	-	NC_000004.12:g.173528782C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp175Asn	missense variant	-	NC_000004.12:g.173528767C>T	NCI-TCGA
rs780513534	p.Val176Met	missense variant	-	NC_000004.12:g.173528764C>T	NCI-TCGA
rs780513534	p.Val176Met	missense variant	-	NC_000004.12:g.173528764C>T	ExAC,TOPMed,gnomAD
rs780513534	p.Val176Leu	missense variant	-	NC_000004.12:g.173528764C>G	ExAC,TOPMed,gnomAD
rs758781153	p.Glu178Lys	missense variant	-	NC_000004.12:g.173528758C>T	ExAC,gnomAD
COSM447612	p.Lys180Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528750C>G	NCI-TCGA Cosmic
rs1309873792	p.Asn186Lys	missense variant	-	NC_000004.12:g.173527373G>C	TOPMed,gnomAD
rs866374463	p.Glu187Lys	missense variant	-	NC_000004.12:g.173527372C>T	-
rs866374463	p.Glu187Lys	missense variant	-	NC_000004.12:g.173527372C>T	NCI-TCGA Cosmic
rs771323605	p.Ile188Met	missense variant	-	NC_000004.12:g.173527367G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu189Met	missense variant	-	NC_000004.12:g.173527366A>T	NCI-TCGA
NCI-TCGA novel	p.Leu189Phe	missense variant	-	NC_000004.12:g.173527364C>G	NCI-TCGA
rs1278510134	p.Leu189Ser	missense variant	-	NC_000004.12:g.173527365A>G	gnomAD
rs377126398	p.Thr192Pro	missense variant	-	NC_000004.12:g.173527357T>G	ESP,TOPMed,gnomAD
rs752758523	p.Ser194Gly	missense variant	-	NC_000004.12:g.173527351T>C	ExAC,gnomAD
rs752758523	p.Ser194Cys	missense variant	-	NC_000004.12:g.173527351T>A	ExAC,gnomAD
rs368269900	p.Ser195Arg	missense variant	-	NC_000004.12:g.173527346G>T	ESP,ExAC,TOPMed,gnomAD
rs1329095136	p.Ser195Asn	missense variant	-	NC_000004.12:g.173527347C>T	gnomAD
rs758466235	p.Asn196Lys	missense variant	-	NC_000004.12:g.173527343G>T	ExAC,gnomAD
rs1353144419	p.Asp197His	missense variant	-	NC_000004.12:g.173527342C>G	gnomAD
rs79728781	p.Lys198Asn	missense variant	-	NC_000004.12:g.173527337C>G	ExAC,gnomAD
rs1239151504	p.Thr200Ile	missense variant	-	NC_000004.12:g.173527332G>A	TOPMed
rs1239151504	p.Thr200Ile	missense variant	-	NC_000004.12:g.173527332G>A	NCI-TCGA Cosmic
COSM733105	p.Gly202Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173527327C>A	NCI-TCGA Cosmic
COSM3428340	p.Arg203Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173527323C>T	NCI-TCGA Cosmic
rs1283528814	p.Arg203Trp	missense variant	-	NC_000004.12:g.173527324G>A	TOPMed
NCI-TCGA novel	p.Thr204Ser	missense variant	-	NC_000004.12:g.173527321T>A	NCI-TCGA
COSM6167020	p.Gly205Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173527318C>A	NCI-TCGA Cosmic
rs763758141	p.His209Tyr	missense variant	-	NC_000004.12:g.173527306G>A	ExAC,gnomAD
rs1449357347	p.His209Gln	missense variant	-	NC_000004.12:g.173527304G>T	TOPMed
rs1165712738	p.Glu214Asp	missense variant	-	NC_000004.12:g.173527289C>A	gnomAD
rs998181198	p.Leu215Ile	missense variant	-	NC_000004.12:g.173527288G>T	TOPMed
rs998090089	p.Lys216Asn	missense variant	-	NC_000004.12:g.173527283C>G	TOPMed,gnomAD
rs140861359	p.Gln217Pro	missense variant	-	NC_000004.12:g.173527281T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0004238	Atrial Fibrillation	disease	CTD_human
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE;CTD_human
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0032927	Precancerous Conditions	group	BEFREE
C0037277	Skin Diseases, Genetic	group	BEFREE
C0039685	Tetralogy of Fallot	disease	BEFREE;CTD_human
C0041107	Trisomy	group	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0162359	Christ-Siemens-Touraine syndrome	disease	BEFREE
C0175699	Saethre-Chotzen Syndrome	disease	BEFREE
C0206762	Limb Deformities, Congenital	group	BEFREE
C0235480	Paroxysmal atrial fibrillation	disease	CTD_human
C0239337	Deformity of limb	group	BEFREE
C0280255	stage, endometrial cancer	phenotype	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0678807	prenatal alcohol exposure	phenotype	PSYGENET
C0741916	Cardiac defects	group	BEFREE
C0878544	Cardiomyopathies	group	BEFREE
C1141890	Congenital long QT syndrome	disease	BEFREE
C1848587	Isolated hypoplasia of the right ventricle	disease	BEFREE
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2585653	Persistent atrial fibrillation	phenotype	CTD_human
C2931559	Chromosome 4q- Syndrome	disease	BEFREE
C2936346	22q11 Deletion Syndrome	disease	BEFREE
C3468561	familial atrial fibrillation	phenotype	CTD_human
C4049796	Abnormality of cardiovascular system morphology	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003680	AT DNA binding	IDA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	ISS
GO:0033613	activating transcription factor binding	ISS
GO:0042803	protein homodimerization activity	ISS
GO:0070888	E-box binding	IDA
GO:0044212	transcription regulatory region DNA binding	ISS
GO:0070888	E-box binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001947	heart looping	IEA
GO:0001967	suckling behavior	IEA
GO:0003219	cardiac right ventricle formation	IEA
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003266	regulation of secondary heart field cardioblast proliferation	ISS
GO:0003278	apoptotic process involved in heart morphogenesis	IEA
GO:0003357	noradrenergic neuron differentiation	NAS
GO:0007507	heart development	NAS
GO:0007512	adult heart development	IEP
GO:0010463	mesenchymal cell proliferation	IEA
GO:0010613	positive regulation of cardiac muscle hypertrophy	IDA
GO:0010613	positive regulation of cardiac muscle hypertrophy	IGI
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	IMP
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	ISS
GO:0034103	regulation of tissue remodeling	IDA
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043392	negative regulation of DNA binding	IEA
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA
GO:0043586	tongue development	IEA
GO:0045668	negative regulation of osteoblast differentiation	IEA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048485	sympathetic nervous system development	IEA
GO:0048538	thymus development	ISS
GO:0048935	peripheral nervous system neuron development	IEA
GO:0060536	cartilage morphogenesis	IEA
GO:0060982	coronary artery morphogenesis	IEA
GO:0061032	visceral serous pericardium development	IEA
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	ISS
GO:0061325	cell proliferation involved in outflow tract morphogenesis	IEA
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP
GO:1900745	positive regulation of p38MAPK cascade	IMP
GO:1903929	primary palate development	IEA
GO:2000679	positive regulation of transcription regulatory region DNA binding	IDA
GO:2000763	positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process	ISS
GO:2000764	positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	IDA
GO:0005667	transcription factor complex	ISS
GO:0032991	protein-containing complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-8878166	Transcriptional regulation by RUNX2	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HAND2 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HAND2 mRNA	28628672
D015084	2,4-Dichlorophenoxyacetic Acid	2,4-Dichlorophenoxyacetic Acid results in increased expression of HAND2 mRNA	28002765
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of HAND2 mRNA	18648102
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of HAND2 gene	27153756
D000438	Alcohols	Alcohols promotes the reaction [Vorinostat results in increased expression of HAND2 mRNA]	24857828
D000438	Alcohols	Alcohols results in increased expression of HAND2 mRNA	24857828
D000438	Alcohols	Curcumin inhibits the reaction [Alcohols results in increased expression of HAND2 mRNA]	24857828
D000438	Alcohols	Vorinostat promotes the reaction [Alcohols results in increased expression of HAND2 mRNA]	24857828
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of HAND2 mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of HAND2 promoter	23974009
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA	28189605
D001205	Ascorbic Acid	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA]	28189605
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA	28189605
C031463	beta-glycerophosphoric acid	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA]	28189605
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of HAND2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of HAND2 mRNA	31126002
C006780	bisphenol A	epigallocatechin gallate affects the reaction [bisphenol A results in increased expression of HAND2 mRNA]	31126002
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HAND2 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the methylation of HAND2 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of HAND2 mRNA	21932408; 27022677; 30892605;
C006780	bisphenol A	bisphenol A results in decreased expression of HAND2 protein	27022677
C006780	bisphenol A	bisphenol A results in increased methylation of HAND2 promoter	30892605
C006780	bisphenol A	bisphenol A results in decreased expression of HAND2 mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HAND2 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in increased expression of HAND2 mRNA	30951980
C037123	cadmium sulfate	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA]	28189605
D003474	Curcumin	Curcumin inhibits the reaction [Alcohols results in increased expression of HAND2 mRNA]	24857828
D003474	Curcumin	Curcumin results in decreased expression of HAND2 mRNA	24857828
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [Tretinoin results in decreased expression of HAND2 mRNA]	16619265
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [Tretinoin results in decreased expression of HAND2 protein]	16619265
D003561	Cytarabine	Cytarabine results in decreased expression of HAND2 mRNA	21198554
D003630	Daunorubicin	Daunorubicin results in decreased expression of HAND2 mRNA	24853142
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of HAND2 mRNA	23914054
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HAND2 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HAND2 mRNA	28628672
D003907	Dexamethasone	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA	28189605
D003907	Dexamethasone	cadmium sulfate inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of HAND2 mRNA]	28189605
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of HAND2 mRNA	24535843
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of HAND2 mRNA	24535843
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of HAND2 mRNA	25242112
D004317	Doxorubicin	Doxorubicin results in decreased expression of HAND2 mRNA	24853142
D004317	Doxorubicin	Doxorubicin results in decreased expression of HAND2 mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in decreased expression of HAND2 mRNA	11073966
C045651	epigallocatechin gallate	epigallocatechin gallate affects the reaction [bisphenol A results in increased expression of HAND2 mRNA]	31126002
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in increased expression of HAND2 mRNA	17404688
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of HAND2 protein	25210133
D005472	Fluorouracil	Fluorouracil results in increased expression of HAND2 mRNA	24737281
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of HAND2 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HAND2 mRNA	28628672
D002955	Leucovorin	Leucovorin results in increased expression of HAND2 mRNA	16925845
D002955	Leucovorin	Leucovorin results in increased expression of HAND2 protein	16925845
C506643	liposomal doxorubicin	liposomal doxorubicin results in decreased expression of HAND2 mRNA	24853142
D015122	Mercaptopurine	Mercaptopurine results in increased expression of HAND2 mRNA	23358152
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of HAND2 mRNA	24535843
D010634	Phenobarbital	Phenobarbital affects the expression of HAND2 mRNA	23091169
C027260	pirarubicin	pirarubicin results in decreased expression of HAND2 mRNA	24853142
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in increased expression of HAND2 mRNA	17404688
D011374	Progesterone	Progesterone results in increased expression of HAND2 mRNA	17404688; 18070364; 20864642;
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of HAND2 protein	25210133
D011374	Progesterone	[Progesterone co-treated with S-Adenosylmethionine] results in increased methylation of HAND2 promoter	30892605
D011374	Progesterone	Progesterone results in increased expression of HAND2 mRNA	30892605
D011374	Progesterone	S-Adenosylmethionine inhibits the reaction [Progesterone results in increased expression of HAND2 mRNA]	30892605
D012436	S-Adenosylmethionine	[Progesterone co-treated with S-Adenosylmethionine] results in increased methylation of HAND2 promoter	30892605
D012436	S-Adenosylmethionine	S-Adenosylmethionine inhibits the reaction [Progesterone results in increased expression of HAND2 mRNA]	30892605
C009277	sodium arsenate	sodium arsenate results in increased expression of HAND2 mRNA	21795629
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of HAND2 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of HAND2 mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of HAND2 mRNA	21570461; 24058054;
D014212	Tretinoin	Tretinoin results in decreased expression of HAND2 protein	17551590
D014212	Tretinoin	Tretinoin results in increased expression of HAND2	15069081
D014212	Tretinoin	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [Tretinoin results in decreased expression of HAND2 mRNA]	16619265
D014212	Tretinoin	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [Tretinoin results in decreased expression of HAND2 protein]	16619265
D014212	Tretinoin	Tretinoin results in decreased expression of HAND2 mRNA	16619265
D014212	Tretinoin	Tretinoin results in decreased expression of HAND2 protein	16619265
D000077288	Troglitazone	Troglitazone results in decreased expression of HAND2 mRNA	28973697
D014635	Valproic Acid	Valproic Acid affects the expression of HAND2 mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of HAND2 gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of HAND2 mRNA	23869203
D000077337	Vorinostat	Alcohols promotes the reaction [Vorinostat results in increased expression of HAND2 mRNA]	24857828
D000077337	Vorinostat	Vorinostat promotes the reaction [Alcohols results in increased expression of HAND2 mRNA]	24857828
D000077337	Vorinostat	Vorinostat results in increased expression of HAND2 mRNA	24857828

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0037	Angiogenesis
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0238	DNA-binding
KW-0539	Nucleus
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: HAND2

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