HES7 Gene Summary [Human]
This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | HES7 |
| Official Name | hes family bHLH transcription factor 7 [Source:HGNC Symbol;Acc:HGNC:15977] |
| Ensembl ID | ENSG00000179111 |
| Bio databases IDs | |
| Aliases | hes family bHLH transcription factor 7, bHLH factor Hes7 |
| Synonyms | bHLHb37, hes family bHLH transcription factor 7, hHes7, SCDO4 |
| 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 HES7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
Pathways
Biological processes and signaling networks where the HES7 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
- spondylocostal dysostosis type 4
- clear cell sarcoma of the kidney
- renal cancer
- soft tissue sarcoma cancer
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HES7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- skeletal system development
- Notch signaling pathway
- rhythmic process
- somitogenesis
- anterior/posterior pattern specification
- mesoderm development
- regulation of neurogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity