HEY2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HEY2 |
| Official Name | hes related family bHLH transcription factor with YRPW motif 2 [Source:HGNC Symbol;Acc:HGNC:4881] |
| Ensembl ID | ENSG00000135547 |
| Bio databases IDs | |
| Aliases | hes related family bHLH transcription factor with YRPW motif 2 |
| Synonyms | bHLHb32, CHF1, GRIDLOCK, GRL, hairy/enhancer-of-split related with YRPW motif 2, HERP1, HESR2, hes-related family bHLH transcription factor with YRPW motif 2, HRT2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HEY2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription factor binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix loop helix domain
- Hairy Orange
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the HEY2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- pancreatic ductal adenocarcinoma
- ventricular septal defect
- congestion
- acute myeloid leukemia
- aortic regurgitation
- perimembranous ventricular septal defect
- valvular regurgitation
- growth failure
- atresia
role in cell
- binding in
- expression in
- proliferation
- invasion by
- differentiation
- migration
- apoptosis
- recruitment
- generation
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HEY2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of heart rate
- regulation of auditory receptor cell differentiation
- positive regulation of cardiac muscle cell proliferation
- anterior/posterior pattern specification
- arterial endothelial cell differentiation
- anterior/posterior axis specification
- cardiac muscle cell apoptotic process
- negative regulation of transcription, DNA-dependent
- cardiac ventricle morphogenesis
- ascending aorta morphogenesis
- negative regulation of biomineral tissue development
- dorsal aorta morphogenesis
- negative regulation of transcription regulatory region DNA binding
- cardiac muscle hypertrophy in response to stress
- aortic valve morphogenesis
- cochlea development
- protein-DNA complex assembly
- mesenchymal cell development
- pulmonary valve morphogenesis
- cardiac epithelial to mesenchymal transition
- tricuspid valve morphogenesis
- ventricular trabecula myocardium morphogenesis
- cardiac muscle cell proliferation
- negative regulation of transcription initiation from RNA polymerase II promoter
- cardiac left ventricle morphogenesis
- negative regulation of gene expression
- cardiac right ventricle morphogenesis
- Notch signaling pathway
- labyrinthine layer blood vessel development
- negative regulation of cardiac vascular smooth muscle cell differentiation
- ventricular cardiac muscle cell development
- negative regulation of cardiac muscle cell apoptotic process
- regulation of neurogenesis
- regulation of vasculogenesis
- pulmonary artery morphogenesis
- muscular septum morphogenesis
- outflow tract morphogenesis
- tricuspid valve formation
- negative regulation of smooth muscle cell differentiation
- vasculogenesis
- epithelial to mesenchymal transition involved in endocardial cushion formation
- negative regulation of Notch signaling pathway
- endocardial cushion to mesenchymal transition involved in heart valve formation
- positive regulation of transcription from RNA polymerase II promoter
- heart trabecula formation
- negative regulation of transcription from RNA polymerase II promoter
- smooth muscle cell differentiation
- cardiac vascular smooth muscle cell development
- cardiac conduction system development
- coronary vasculature morphogenesis
- cardiac septum morphogenesis
- ventricular septum morphogenesis
- vascular smooth muscle cell development
- atrial septum morphogenesis
- regulation of transcription from RNA polymerase II promoter
- cell fate commitment
- circulatory system development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- transcriptional repressor complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity