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HAND2 heart and neural crest derivatives expressed 2 [ Homo sapiens (human) ]

Gene ID: 9464, updated on 10-Oct-2020

Summary

Official Symbol
HAND2provided by HGNC
Official Full Name
heart and neural crest derivatives expressed 2provided by HGNC
Primary source
HGNC:HGNC:4808
See related
Ensembl:ENSG00000164107 MIM:602407
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Hed; dHand; DHAND2; Thing2; bHLHa26
Summary
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
Expression
Biased expression in endometrium (RPKM 25.0), adrenal (RPKM 21.4) and 12 other tissues See more
Orthologs

Genomic context

See HAND2 in Genome Data Viewer
Location:
4q34.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (173526091..173530229, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (174447652..174451378, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene stimulator of chondrogenesis 1 Neighboring gene uncharacterized LOC112267917 Neighboring gene uncharacterized LOC101928409 Neighboring gene HAND2 antisense RNA 1 Neighboring gene mortality factor 4 (pseudogene) Neighboring gene RAN pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16260, MGC125303, MGC125304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AT DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adult heart development IEP
Inferred from Expression Pattern
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic process involved in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac neural crest cell development involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac right ventricle formation IEA
Inferred from Electronic Annotation
more info
 
cartilage morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell proliferation involved in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
coronary artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development NAS
Non-traceable Author Statement
more info
PubMed 
heart looping IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cardiac muscle cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
noradrenergic neuron differentiation NAS
Non-traceable Author Statement
more info
PubMed 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cardiac muscle hypertrophy IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cardiac muscle hypertrophy IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of p38MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
primary palate development IEA
Inferred from Electronic Annotation
more info
 
regulation of secondary heart field cardioblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of tissue remodeling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
suckling behavior IEA
Inferred from Electronic Annotation
more info
 
sympathetic nervous system development IEA
Inferred from Electronic Annotation
more info
 
thymus development ISS
Inferred from Sequence or Structural Similarity
more info
 
tongue development IEA
Inferred from Electronic Annotation
more info
 
visceral serous pericardium development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
heart- and neural crest derivatives-expressed protein 2
Names
basic helix-loop-helix transcription factor HAND2
class A basic helix-loop-helix protein 26
deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046954.1 RefSeqGene

    Range
    4999..9137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021973.3NP_068808.1  heart- and neural crest derivatives-expressed protein 2

    See identical proteins and their annotated locations for NP_068808.1

    Status: REVIEWED

    Source sequence(s)
    AC093849
    Consensus CDS
    CCDS3819.1
    UniProtKB/Swiss-Prot
    P61296
    Related
    ENSP00000352565.4, ENST00000359562.4
    Conserved Domains (1) summary
    cd11471
    Location:100161
    bHLH_TS_HAND2; basic helix-loop-helix (bHLH) domain found in heart- and neural crest derivatives-expressed protein 2 (HAND2) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    173526091..173530229 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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