• Gene id: 55502

Gene Summary

• Gene Symbol: HES6   Gene   UCSC   Ensembl
• Aliases: C-HAIRY1, HES-6, bHLHb41, bHLHc23
• Gene name: hes family bHLH transcription factor 6
• Alternate names: transcription cofactor HES-6, class B basic helix-loop-helix protein 41, hairy and enhancer of split 6,
• Gene location: 2q37.3 (238240037: 238238266)     Exons: 4     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encode
• OMIM: 610331

Protein Summary

• Protein general information: Q96HZ4  
  • Name: Transcription cofactor HES 6 (C HAIRY1) (Class B basic helix loop helix protein 41) (bHLHb41) (Hairy and enhancer of split 6)
  • Length: 224  
  • Mass: 24129
• Sequence:

  MAPPAAPGRDRVGREDEDGWETRGDRKARKPLVEKKRRARINESLQELRLLLAGAEVQAKLENAEVLELTVRRVQ
  GVLRGRAREREQLQAEASERFAAGYIQCMHEVHTFVSTCQAIDATVAAELLNHLLESMPLREGSSFQDLLGDALA
  GPPRAPGRSGWPAGGAPGSPIPSPPGPGDDLCSDLEEAPEAELSQAPAEGPDLVPAALGSLTTAQIARSVWRPW

• Structural information:
  • Protein Domains: (25..7-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (96..12-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • STRING: ENSP00000272937
• Other Databases: GeneCards:  HES6  Malacards:  HES6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	ISS	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	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:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
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:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	NAS	molecular function
GO:0003712	transcription coregulator activity	ISS	molecular function
GO:0005667	transcription regulator complex	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

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)