Hand2
Gene Detail

Symbol Name ID

Hand2 heart and neural crest derivatives expressed transcript 2 MGI:103580

Synonyms

bHLHa26, dHAND, Ehand2, Hed, Thing2

Feature Type

protein coding gene

Genetic Map

Chromosome 8

29.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr8:57320983-57324517 bp, + strand From NCBI annotation of GRCm38   3535 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:32092  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Hand2

Human homologs

Human Homolog		HAND2, heart and neural crest derivatives expressed 2
NCBI Gene ID		9464
neXtProt AC		NX_P61296
Human Synonyms		bHLHa26, dHand, DHAND2, Hed, Thing2
Human Chr (Location)		4q33; chr4:174447652-174451378 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(9) : Targeted(9)
 

Homozygous targeted null mutants have defects of the neural crest component of branchial and aortic arches and die from heart failure at embryonic day 10.5. Targeted branchial arch specific enhancer mutants show craniofacial defects and die perinatally.

 

Gene Ontology (GO) classifications

All GO classifications: (74 annotations)

Process	adult heart development, angiogenesis, ...
Component	nuclear chromatin, nucleus, ...
Function	activating transcription factor binding, AT DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (201 records)
Data Summary: Results (360)    Tissues (152)    Images (107)
Theiler Stages: 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 22, 23, 24, 28

Assay Type	Results
RNA in situ	330
Northern blot	26
RT-PCR	4

cDNA source data(14)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(38) Genomic(3) cDNA(17) Primer pair(4) Other(14)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000038193 (Evidence)
Entrez Gene	15111 (Evidence)
DFCI	TC1582014
DoTS	DT.110906538, DT.523379
NIA Mouse Gene Index	U009353
Consensus CDS Project	CCDS22315.1
International Mouse Knockout Project Status	Hand2

Sequences

Length	Strain/Species
genomic	15111	NCBI Gene Model | MGI Sequence Detail	3535	C57BL/6J
transcript	NM_010402	RefSeq | MGI Sequence Detail	2235	C57BL/6
polypeptide	Q61039	UniProt | EBI | MGI Sequence Detail	217	Not Applicable

All sequences(21) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(2) : SNPs(5 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011598	Myc-type, basic helix-loop-helix (bHLH) domain
Protein Ontology	PR:000008440	heart- and neural crest derivatives-expressed protein 2

Graphical View of Protein Domain Structure

References

(Earliest) J:26206 Hollenberg SM, et al., Identification of a new family of tissue-specific basic helix-loop-helix proteins with a two-hybrid system. Mol Cell Biol. 1995 Jul;15(7):3813-22
(Latest) J:195264 Vincentz JW, et al., Twist1 Controls a Cell-Specification Switch Governing Cell Fate Decisions within the Cardiac Neural Crest. PLoS Genet. 2013 Mar;9(3):e1003405
All references(255)

Other accession IDs

MGD-MRK-24465, MGD-MRK-25633, MGI:104305, MGI:2142483, MGI:2142607