Homo sapiens Gene: HEY2
Summary
InnateDB Gene IDBG-96125.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEY2
Gene Name hairy/enhancer-of-split related with YRPW motif 2
Synonyms bHLHb32; CHF1; GRIDLOCK; GRL; HERP1; HESR2; HRT2
Species Homo sapiens
Ensembl Gene ENSG00000135547
Encoded Proteins
hairy/enhancer-of-split related with YRPW motif 2
hairy/enhancer-of-split related with YRPW motif 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:125747664-125761269
Strand Forward strand
Band q22.31
Transcripts
ENST00000368365 ENSP00000357349
ENST00000368364 ENSP00000357348
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 21 [view]
Protein-Protein 20 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0000988 protein binding transcription factor activity
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0035939 microsatellite binding
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding
GO:0046983 protein dimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001568 blood vessel development
GO:0001570 vasculogenesis
GO:0003150 muscular septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003171 atrioventricular valve development
GO:0003184 pulmonary valve morphogenesis
GO:0003186 tricuspid valve morphogenesis
GO:0003195 tricuspid valve formation
GO:0003199 endocardial cushion to mesenchymal transition involved in heart valve formation
GO:0003208 cardiac ventricle morphogenesis
GO:0003214 cardiac left ventricle morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003300 cardiac muscle hypertrophy
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0007389 pattern specification process
GO:0007507 heart development
GO:0009948 anterior/posterior axis specification
GO:0010460 positive regulation of heart rate
GO:0010468 regulation of gene expression
GO:0010621 negative regulation of transcription by transcription factor localization
GO:0010629 negative regulation of gene expression
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0014031 mesenchymal cell development
GO:0014898 cardiac muscle hypertrophy in response to stress
GO:0035910 ascending aorta morphogenesis
GO:0035912 dorsal aorta morphogenesis
GO:0036304 umbilical cord morphogenesis
GO:0045165 cell fate commitment
GO:0045607 regulation of auditory receptor cell differentiation
GO:0045746 negative regulation of Notch signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051145 smooth muscle cell differentiation
GO:0055015 ventricular cardiac muscle cell development
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060347 heart trabecula formation
GO:0060411 cardiac septum morphogenesis
GO:0060412 ventricular septum morphogenesis
GO:0060413 atrial septum morphogenesis
GO:0060633 negative regulation of transcription initiation from RNA polymerase II promoter
GO:0060716 labyrinthine layer blood vessel development
GO:0060840 artery development
GO:0060842 arterial endothelial cell differentiation
GO:0060948 cardiac vascular smooth muscle cell development
GO:0060977 coronary vasculature morphogenesis
GO:0061156 pulmonary artery morphogenesis
GO:0061314 Notch signaling involved in heart development
GO:0065004 protein-DNA complex assembly
GO:0090102 cochlea development
GO:0097084 vascular smooth muscle cell development
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2000723 negative regulation of cardiac vascular smooth muscle cell differentiation
GO:2000820 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation
GO:2001212 regulation of vasculogenesis
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016580 Sin3 complex
GO:0017053 transcriptional repressor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Notch pathway
REACTOME
NOTCH1 Intracellular Domain Regulates Transcription pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
Disease pathway
KEGG
INOH
PID NCI
Notch-mediated HES/HEY network
p73 transcription factor network
Cross-References
SwissProt Q9UBP5
TrEMBL B4E1L3 Q5TF93
UniProt Splice Variant
Entrez Gene 23493
UniGene Hs.144287 Hs.608232
RefSeq NM_012259 XM_005266878
HUGO HGNC:4881
OMIM 604674
CCDS CCDS5131
HPRD 05243
IMGT
EMBL AB044755 AF173901 AF232238 AF237949 AF311884 AJ249545 AK303890 AL078594 BC007707 BT020067 BT020068
GenPept AAF20173 AAF37296 AAF44781 AAG31157 AAH07707 AAV38870 AAV38871 BAA96781 BAG64825 CAB56839 CAB87581
RNA Seq Atlas 23493