HES7 Gene - Hairy and Enhancer of Split 7
Key regulator of somitogenesis and vertebral development
Gene Information Card
| Symbol | HES7 |
|---|---|
| Full Name | Hairy and enhancer of split 7 (Drosophila) |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 84667 ncbi.nlm.nih.gov/gene/84667 |
| Ensembl ID | ENSG00000179111 |
| UniProt ID | Q9BYE0 |
| OMIM ID | 608059 |
| HGNC ID | 15951 |
| Aliases | bHLHb37, HES7_HUMAN |
Description
HES7 is a basic helix-loop-helix (bHLH) transcription factor that functions as a repressor in the Notch signaling pathway. It is essential for the segmentation clock during somitogenesis, regulating the periodic expression of genes that control vertebral column formation. Mutations in HES7 cause autosomal recessive spondylocostal dysostosis type 4 (SCDO4), characterized by vertebral and rib malformations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylocostal dysostosis 4 (SCDO4) | Loss-of-function mutations disrupt Notch-mediated segmentation clock, leading to abnormal somite formation and vertebral defects. | OMIM #613686; ClinVar pathogenic variants |
| Scoliosis (associated) | Impaired HES7 function may contribute to vertebral segmentation defects, predisposing to scoliosis. | Case reports in SCDO4 patients |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| HEK 293 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544C>T (p.Arg182Trp) | Missense | Rare | Loss of DNA-binding ability; associated with SCDO4 |
| c.1A>G (p.Met1Val) | Missense | Rare | Start codon loss; loss of function; SCDO4 |
| c.206delC (p.Pro69Leufs*19) | Frameshift | Rare | Premature truncation; loss of function; SCDO4 |
Mutation functional classification
Loss of Function (LOF)
Most HES7 mutations are loss-of-function, impairing transcriptional repression and somitogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG hsa04330)
• Segmentation clock (Reactome R-HSA-9824439)
Protein Summary
HES7 is a 225-amino acid bHLH transcription factor that forms homodimers or heterodimers with other HES family members. It binds to N-box sequences (CACNAG) in target gene promoters to repress transcription. The protein contains a bHLH domain for DNA binding and dimerization, and an Orange domain for specificity. HES7 is a core component of the somitogenesis clock, oscillating in the presomitic mesoderm to coordinate somite formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HES7 Knockout HEK293 Cell Line | EDJ-KQ2954 | Human | 84667 | Details Get a Quote |
| HES7 Knockout HeLa Cell Line | EDJ-KQ24093 | Human | 84667 | Details Get a Quote |
| HES7 Knockout A-549 Cell Line | EDJ-KQ66136 | Human | 84667 | Details Get a Quote |
| HES7 Knockout HCT 116 Cell Line | EDJ-KQ74562 | Human | 84667 | Details Get a Quote |
