• Gene id: 3234

Gene Summary

• Gene Symbol: HOXD8   Gene   UCSC   Ensembl
• Aliases: HOX4, HOX4E, HOX5.4
• Gene name: homeobox D8
• Alternate names: homeobox protein Hox-D8, Hox-4.5, homeo box 4E, homeo box D8, homeobox protein 5.4, homeobox protein Hox-4E, homeobox protein Hox-5.4,
• Gene location: 2q31.1 (176129704: 176132694)     Exons: 2     NC_000002.12
• 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: 142985

Protein Summary

• Protein general information: P13378  
  • Name: Homeobox protein Hox D8 (Homeobox protein Hox 4E) (Homeobox protein Hox 5.4)
  • Length: 290  
  • Mass: 31911
• Sequence:

  MSSYFVNPLYSKYKAAAAAAAAAGEAINPTYYDCHFAPEVGGRHAAAAAALQLYGNSAAGFPHAPPQAHAHPHPS
  PPPSGTGCGGREGRGQEYFHPGGGSPAAAYQAAPPPPPHPPPPPPPPPCGGIACHGEPAKFYGYDNLQRQPIFTT
  QQEAELVQYPDCKSSSGNIGEDPDHLNQSSSPSQMFPWMRPQAAPGRRRGRQTYSRFQTLELEKEFLFNPYLTRK
  RRIEVSHALALTERQVKIWFQNRRMKWKKENNKDKFPVSRQEVKDGETKKEAQELEEDRAEGLTN

• Structural information:
  • Interpro: IPR009057  IPR001827  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000315949
• Other Databases: GeneCards:  HOXD8  Malacards:  HOXD8

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:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	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:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
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:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008595	anterior/posterior axis specification, embryo	NAS	biological process
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881