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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HES7
hes family bHLH transcription factor 7
Chromosome 17 Β· 17p13.1
NCBI Gene: 84667Ensembl: ENSG00000179111.9HGNC: HGNC:15977UniProt: Q9BYE0
23PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingnucleuschromatinautosomal recessive spondylocostal dysostosisspondylocostal dysostosis 4, autosomal recessiveneurodegenerative diseasescoliosis
✦AI Summary

HES7 is a bHLH transcriptional repressor that functions as a core component of the segmentation clock, essential for coordinated somite formation 1. It represses transcription from N box- and E box-containing promoters and is dynamically expressed in the presomitic mesoderm under Notch signaling control 1. HES7 oscillates with species-specific periods: 2-3 hours in mice versus 5-6 hours in humans, reflecting differential biochemical reaction kinetics rather than sequence differences 2. These oscillations are synchronized across neighboring cells and coupled with Notch and FGF signaling to generate the oscillatory networks that constitute the core segmentation clock 3. Perturbation of HES7 oscillatory dynamics, such as through altered Dll1 expression timing, impairs somite segmentation and causes vertebral fusion 4. In humans, HES7 mutations are associated with spondylocostal dysostosis 4, an autosomal recessive disorder affecting axial skeleton development 5. Recent pluripotent stem cell models demonstrate HES7's critical role in human somitogenesis and have enabled investigation of disease-causing mutations 5. Additionally, HES7 may suppress prostate tumorigenesis through epigenetic regulation 6, suggesting roles beyond developmental biology.

Sources cited
1
HES7 is a bHLH repressor gene expressed dynamically in presomitic mesoderm, regulated by Notch signaling, and represses N box and E box-containing promoters
PMID: 11260262
2
Species-specific segmentation clock periods (2-3 hours in mice, 5-6 hours in humans) are due to differential biochemical reaction speeds of HES7, not sequence differences
PMID: 32943519
3
HES7 oscillates through negative feedback in mouse PSM and induces coupled oscillations of Notch and Fgf signaling, forming core oscillator networks for the segmentation clock
PMID: 23799565
4
Appropriate timing of HES7 oscillation is critical; altered oscillatory dynamics impair somite segmentation causing vertebral fusion
PMID: 30030831
5
HES7 mutations cause spondylocostal dysostosis 4 and can be studied in human pluripotent stem cell-derived axioloid models of somitogenesis
PMID: 36543322
6
HES7 may suppress prostate tumorigenesis through epigenetic regulation
PMID: 40812719
Disease Associationsβ“˜21
autosomal recessive spondylocostal dysostosisOpen Targets
0.64Moderate
spondylocostal dysostosis 4, autosomal recessiveOpen Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
scoliosisOpen Targets
0.34Weak
Abnormal form of the vertebral bodiesOpen Targets
0.34Weak
Decreased body weightOpen Targets
0.34Weak
Delayed ability to standOpen Targets
0.34Weak
Delayed ability to walkOpen Targets
0.34Weak
Delayed fine motor developmentOpen Targets
0.34Weak
Failure to thrive in infancyOpen Targets
0.34Weak
Intellectual disabilityOpen Targets
0.34Weak
Lumbar kyphoscoliosisOpen Targets
0.34Weak
Mild global developmental delayOpen Targets
0.34Weak
Neuropathic spinal arthropathyOpen Targets
0.34Weak
Progressive congenital scoliosisOpen Targets
0.34Weak
Severe failure to thriveOpen Targets
0.34Weak
Short statureOpen Targets
0.34Weak
Tapered fingerOpen Targets
0.34Weak
Thoracic scoliosisOpen Targets
0.34Weak
Vertebral fusionOpen Targets
0.34Weak
Spondylocostal dysostosis 4, autosomal recessiveUniProt
Pathogenic Variants6
NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)Likely pathogenic
Spondylocostal dysostosis 4, autosomal recessive|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 137
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)Likely pathogenic
Spondylocostal dysostosis 4, autosomal recessive
β˜…β˜†β˜†β˜†2016β†’ Residue 29
NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)Likely pathogenic
Spondylocostal dysostosis 4, autosomal recessive
β˜…β˜†β˜†β˜†β†’ Residue 38
NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)Pathogenic
Spondylocostal dysostosis 4, autosomal recessive
β˜†β˜†β˜†β˜†2010β†’ Residue 191
NM_001165967.2(HES7):c.172A>G (p.Ile58Val)Pathogenic
Spondylocostal dysostosis 4, autosomal recessive
β˜†β˜†β˜†β˜†2010β†’ Residue 58
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)Pathogenic
Spondylocostal dysostosis 4, autosomal recessive|Spondylocostal dysostosis 2, autosomal recessive
β˜†β˜†β˜†β˜†2008β†’ Residue 25
View on ClinVar β†—
Related Genes
HES2Shared pathway67%HES6Shared pathway67%HES3Shared pathway67%HELTShared pathway50%BHLHE41Shared pathway33%HES4Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Lung
56%
Brain
32%
Heart
29%
Liver
6%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HES7HES2HES6HES3HELTBHLHE41HES4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BYE0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.32LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.73 [0.43–1.32]
RankingsWhere HES7 stands among ~20K protein-coding genes
  • #13,433of 20,598
    Most Researched23
  • #3,436of 5,498
    Most Pathogenic Variants6
  • #13,857of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedHES7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Reconstituting human somitogenesis in vitro.
PMID: 36543322
Nature Β· 2023
1.00
2
A stem cell zoo uncovers intracellular scaling of developmental tempo across mammals.
PMID: 37343565
Cell Stem Cell Β· 2023
0.90
3
Species-specific segmentation clock periods are due to differential biochemical reaction speeds.
PMID: 32943519
Science Β· 2020
0.80
4
Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm.
PMID: 11260262
Genes Cells Β· 2001
0.70
5
Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.
PMID: 22744456
Stud Health Technol Inform Β· 2012
0.60