• Gene id: 3221

Gene Summary

• Gene Symbol: HOXC4   Gene   UCSC   Ensembl
• Aliases: HOX3, HOX3E, cp19
• Gene name: homeobox C4
• Alternate names: homeobox protein Hox-C4, homeo box 3E, homeobox protein CP19, homeobox protein Hox-3E,
• Gene location: 12q13.13 (54016887: 54056029)     Exons: 4     NC_000012.12
• Gene summary(Entrez): This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene cluster
• OMIM: 601897

Protein Summary

• Protein general information: P09017  
  • Name: Homeobox protein Hox C4 (Homeobox protein CP19) (Homeobox protein Hox 3E)
  • Length: 264  
  • Mass: 29811
• Sequence:

  MIMSSYLMDSNYIDPKFPPCEEYSQNSYIPEHSPEYYGRTRESGFQHHHQELYPPPPPRPSYPERQYSCTSLQGP
  GNSRGHGPAQAGHHHPEKSQSLCEPAPLSGASASPSPAPPACSQPAPDHPSSAASKQPIVYPWMKKIHVSTVNPN
  YNGGEPKRSRTAYTRQQVLELEKEFHYNRYLTRRRRIEIAHSLCLSERQIKIWFQNRRMKWKKDHRLPNTKVRSA
  PPAGAAPSTLSAATPGTSEDHSQSATPPEQQRAEDITRL

• Structural information:
  • Interpro: IPR009057  IPR017995  IPR001827  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000399808
• Other Databases: GeneCards:  HOXC4  Malacards:  HOXC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
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:0001501	skeletal system development	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0048704	embryonic skeletal system morphogenesis	IBA	biological process
GO:0033613	activating transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0048562	embryonic organ morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray