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    HEY2 hes related family bHLH transcription factor with YRPW motif 2 [ Homo sapiens (human) ]

    Gene ID: 23493, updated on 2-Nov-2024

    Summary

    Official Symbol
    HEY2provided by HGNC
    Official Full Name
    hes related family bHLH transcription factor with YRPW motif 2provided by HGNC
    Primary source
    HGNC:HGNC:4881
    See related
    Ensembl:ENSG00000135547 MIM:604674; AllianceGenome:HGNC:4881
    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
    GRL; CHF1; HRT2; HERP1; HESR2; bHLHb32; GRIDLOCK
    Summary
    This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in endometrium (RPKM 2.9), brain (RPKM 2.7) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HEY2 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (125749632..125761269)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (126938147..126949784)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (126070778..126082415)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:125711176-125711724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125765831-125766344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125766345-125766856 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:125849225-125850424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:125854657-125855265 Neighboring gene NANOG hESC enhancer GRCh37_chr6:125870255-125870862 Neighboring gene HEY2 antisense RNA 1 Neighboring gene MPRA-validated peak6111 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:125991600-125992310 Neighboring gene long intergenic non-protein coding RNA 2523 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:126023017-126023671 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:126028243-126028789 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:126028790-126029335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25027 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:126066495-126067162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17519 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:126091955-126092877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:126101539-126102088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:126102089-126102637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17521 Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:126111392-126111892 and GRCh37_chr6:126111893-126112393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25031 Neighboring gene tRNA-Glu (anticodon CTC) 1-7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:126139229-126139730 Neighboring gene NCOA7 antisense RNA 1 Neighboring gene nuclear receptor coactivator 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10720

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Notch signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in anterior/posterior axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aortic valve morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in arterial endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ascending aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in atrial septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac conduction system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac left ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac right ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac vascular smooth muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circulatory system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary vasculature morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardial cushion to mesenchymal transition involved in heart valve formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in heart trabecula formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in labyrinthine layer blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesenchymal cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of biomineral tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac vascular smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription initiation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein-DNA complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in smooth muscle cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in tricuspid valve formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricuspid valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in umbilical cord morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vascular associated smooth muscle cell development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular trabecula myocardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    hairy/enhancer-of-split related with YRPW motif protein 2
    Names
    HES-related repressor protein 1
    HES-related repressor protein 2
    HESR-2
    HRT-2
    cardiovascular basic helix-loop-helix factor 1
    cardiovascular helix-loop-helix factor 1
    class B basic helix-loop-helix protein 32
    hCHF1
    hHRT2
    hairy and enhancer of split-related protein 2
    hairy-related transcription factor 2
    hairy/enhancer-of-split related with YRPW motif 2
    protein gridlock homolog

    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.

    mRNA and Protein(s)

    1. NM_012259.3NP_036391.1  hairy/enhancer-of-split related with YRPW motif protein 2

      See identical proteins and their annotated locations for NP_036391.1

      Status: REVIEWED

      Source sequence(s)
      AJ249545, BC007707, BI549391
      Consensus CDS
      CCDS5131.1
      UniProtKB/Swiss-Prot
      Q9UBP5
      UniProtKB/TrEMBL
      A8K1M8
      Related
      ENSP00000357348.3, ENST00000368364.4
      Conserved Domains (2) summary
      smart00511
      Location:119165
      ORANGE; Orange domain
      cd18920
      Location:40121
      bHLH-O_HEY2; basic helix-loop-helix-orange (bHLH-O) domain found in hairy/enhancer-of-split related with YRPW motif protein 2 (HEY2) 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      125749632..125761269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010628.2XP_016866117.1  hairy/enhancer-of-split related with YRPW motif protein 2 isoform X1

      UniProtKB/TrEMBL
      B4E1L3, Q5TF93
      Conserved Domains (2) summary
      smart00511
      Location:73119
      ORANGE; Orange domain
      cl00081
      Location:175
      bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
    2. XM_017010627.2XP_016866116.1  hairy/enhancer-of-split related with YRPW motif protein 2 isoform X1

      UniProtKB/TrEMBL
      B4E1L3, Q5TF93
      Related
      ENSP00000357349.1, ENST00000368365.5
      Conserved Domains (2) summary
      smart00511
      Location:73119
      ORANGE; Orange domain
      cl00081
      Location:175
      bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      126938147..126949784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354946.1XP_054210921.1  hairy/enhancer-of-split related with YRPW motif protein 2 isoform X1

      UniProtKB/TrEMBL
      Q5TF93
    2. XM_054354945.1XP_054210920.1  hairy/enhancer-of-split related with YRPW motif protein 2 isoform X1

      UniProtKB/TrEMBL
      Q5TF93