• Gene id: 84667

Gene Summary

• Gene Symbol: HES7   Gene   UCSC   Ensembl
• Aliases: SCDO4, bHLHb37
• Gene name: hes family bHLH transcription factor 7
• Alternate names: transcription factor HES-7, bHLH factor Hes7, class B basic helix-loop-helix protein 37, hHes7, hairy and enhancer of split 7,
• Gene location: 17p13.1 (8126031: 8120589)     Exons: 13     NC_000017.11
• Gene summary(Entrez): 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 pattern
• OMIM: 608059

Protein Summary

• Protein general information: Q9BYE0  
  • Name: Transcription factor HES 7 (hHes7) (Class B basic helix loop helix protein 37) (bHLHb37) (Hairy and enhancer of split 7) (bHLH factor Hes7)
  • Length: 225  
  • Mass: 24899
• Sequence:

  MVTRDRAENRDGPKMLKPLVEKRRRDRINRSLEELRLLLLERTRDQNLRNPKLEKAEILEFAVGYLRERSRVEPP
  GVPRSPVQDAEALASCYLSGFRECLLRLAAFAHDASPAARAQLFSALHGYLRPKPPRPKPVDPRPPAPRPSLDPA
  APALGPALHQRPPVHQGHPSPRCAWSPSLCSPRAGDSGAPAPLTGLLPPPPPPHRQDGAPKAPLPPPPAFWRPWP

• Structural information:
  • Protein Domains: (12..6-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (92..12-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR032644  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • STRING: ENSP00000446205
• Other Databases: GeneCards:  HES7  Malacards:  HES7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	NAS	molecular function
GO:0007498	mesoderm development	NAS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0003677	DNA binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Spondylocostal dysostosis	KEGG:H00517
Spondylocostal dysostosis	KEGG:H00517
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray