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

    Gene ID: 9464, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:4808
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See HAND2 in Genome Data Viewer
    Location:
    4q34.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (173526091..173530229, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (176865882..176870021, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (174447242..174451380, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene stimulator of chondrogenesis 1 Neighboring gene uncharacterized LOC101928409 Neighboring gene uncharacterized LOC124900815 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:174439311-174440510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:174445895-174446436 Neighboring gene uncharacterized LOC124900816 Neighboring gene NANOG hESC enhancer GRCh37_chr4:174457885-174458386 Neighboring gene HAND2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:174529467-174530044 Neighboring gene mortality factor 4 (pseudogene)

    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

    Clone Names

    • FLJ16260, MGC125303, MGC125304

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      B6ECG9, O95300, O95301, P61296, P97833, Q494T1
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      176865882..176870021 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)