• Gene id: 54626

Gene Summary

• Gene Symbol: HES2   Gene   UCSC   Ensembl
• Aliases: bHLHb40
• Gene name: hes family bHLH transcription factor 2
• Alternate names: transcription factor HES-2, class B basic helix-loop-helix protein 40, hairy and enhancer of split 2,
• Gene location: 1p36.31 (6419918: 6415231)     Exons: 4     NC_000001.11

Protein Summary

• Protein general information: Q9Y543  
  • Name: Transcription factor HES 2 (Class B basic helix loop helix protein 40) (bHLHb40) (Hairy and enhancer of split 2)
  • Length: 173  
  • Mass: 18470
  • Tissue specificity: Expressed in placenta, pancreatic cancer, colon cancer with RER, cervical cancer, and in head and neck tumors. {ECO
• Sequence:

  MGLPRRAGDAAELRKSLKPLLEKRRRARINQSLSQLKGLILPLLGRENSNCSKLEKADVLEMTVRFLQELPASSW
  PTAAPLPCDSYREGYSACVARLARVLPACRVLEPAVSARLLEHLWRRAASATLDGGRAGDSSGPSAPAPAPASAP
  EPASAPVPSPPSPPCGPGLWRPW

• Structural information:
  • Protein Domains: (13..7-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (86..11-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • STRING: ENSP00000367065
• Other Databases: GeneCards:  HES2  Malacards:  HES2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
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:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	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

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray