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

Gene ID: 23493, updated on 9-Jan-2022

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
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
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Genomic context

See HEY2 in Genome Data Viewer
Location:
6q22.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (125747639..125762243)
105.20201022 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 HEY2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2523 Neighboring gene tRNA-Glu (anticodon CTC) 1-7 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
  • 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

Homology

Clone Names

  • MGC10720

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling involved in heart development IC
Inferred by Curator
more info
PubMed 
involved_in Notch signaling involved in heart development TAS
Traceable Author Statement
more info
PubMed 
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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
PubMed 
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 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
PubMed 
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 Notch signaling pathway IEA
Inferred from Electronic Annotation
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 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 transcription factor localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription initiation from RNA polymerase II promoter 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 negative regulation of transcription, DNA-templated 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 gene expression ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    125747639..125762243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010629.2XP_016866118.1  hairy/enhancer-of-split related with YRPW motif protein 2 isoform X1

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

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

    UniProtKB/TrEMBL
    Q5TF93
    Conserved Domains (2) summary
    smart00511
    Location:73119
    ORANGE; Orange domain
    cl00081
    Location:175
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
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