HES7

Protein identityUniProt · HPA

UniProt accession

Q9BYE0

Gene

HES7

Ensembl

ENSG00000179111

Chromosome

17

Canonical length

225 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nucleoli

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

225 residues, UniProt reviewed canonical sequence.

>Q9BYE0|HES7
     1  MVTRDRAENR DGPKMLKPLV EKRRRDRINR SLEELRLLLL ERTRDQNLRN PKLEKAEILE
    61  FAVGYLRERS RVEPPGVPRS PVQDAEALAS CYLSGFRECL LRLAAFAHDA SPAARAQLFS
   121  ALHGYLRPKP PRPKPVDPRP PAPRPSLDPA APALGPALHQ RPPVHQGHPS PRCAWSPSLC
   181  SPRAGDSGAP APLTGLLPPP PPPHRQDGAP KAPLPPPPAF WRPWP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HES7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

5.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HES7.

Disease | AllUniProt

Conditions HES7 is implicated in, by any mechanism.

• Spondylocostal dysostosis 4, autosomal recessive (SCDO4) MIM:613686

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 147 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondylocostal dysostosis 4, autosomal recessive
• Spondylocostal dysostosis 2, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.52

gnomAD pLI

0.83

gnomAD missense Z

0.76

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterior/posterior pattern specification
• mesoderm development
• negative regulation of transcription by RNA polymerase II
• Notch signaling pathway
• post-anal tail morphogenesis
• regulation of neurogenesis
• regulation of transcription by RNA polymerase II
• rhythmic process
• skeletal system development
• somitogenesis

Molecular functions

• DNA binding
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein dimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Orange domain
• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• Hairy and Enhancer of Split/HEY-related
• Helix-loop-helix DNA-binding domain
• Transcription factor HES-7, basic helix-loop-helix-orange domain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Dwarfism
• Nucleus
• Repressor
• Transcription
• Transcription regulation