HES7
Chr 17ARhes family bHLH transcription factor 7
Also known as: SCDO4, bHLHb37, hHes7
This gene encodes a transcriptional repressor that functions as a segmentation clock essential for coordinated somite formation and axial skeleton patterning during embryonic development. Mutations cause spondylocostal dysostosis 4, an autosomal recessive disorder characterized by vertebral and rib malformations. The gene shows high constraint against loss-of-function variants (pLI 0.83, LOEUF 0.52), indicating that heterozygous loss-of-function is likely deleterious.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HES7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools