• Gene id: 3232

Gene Summary

• Gene Symbol: HOXD3   Gene   UCSC   Ensembl
• Aliases: HOX1D, HOX4, HOX4A, Hox-4.1
• Gene name: homeobox D3
• Alternate names: homeobox protein Hox-D3, Hox-4.1, mouse, homolog of, homeo box D3, homeobox protein Hox-4A,
• Gene location: 2q31.1 (176157306: 176173101)     Exons: 8     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: 142980

Protein Summary

• Protein general information: P31249  
  • Name: Homeobox protein Hox D3 (Homeobox protein Hox 4A)
  • Length: 432  
  • Mass: 45730
• Sequence:

  MLFEQGQQALELPECTMQKAAYYENPGLFGGYGYSKTTDTYGYSTPHQPYPPPAAASSLDTDYPGSACSIQSSAP
  LRAPAHKGAELNGSCMRPGTGNSQGGGGGSQPPGLNSEQQPPQPPPPPPTLPPSSPTNPGGGVPAKKPKGGPNAS
  SSSATISKQIFPWMKESRQNSKQKNSCATAGESCEDKSPPGPASKRVRTAYTSAQLVELEKEFHFNRYLCRPRRV
  EMANLLNLTERQIKIWFQNRRMKYKKDQKAKGILHSPASQSPERSPPLGGAAGHVAYSGQLPPVPGLAYDAPSPP
  AFAKSQPNMYGLAAYTAPLSSCLPQQKRYAAPEFEPHPMASNGGGFASANLQGSPVYVGGNFVESMAPASGPVFN
  LGHLSHPSSASVDYSCAAQIPGNHHHGPCDPHPTYTDLSAHHSSQGRLPEAPKLTHL

• Structural information:
  • Interpro: IPR025281  IPR009057  IPR001827  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000386498
• Other Databases: GeneCards:  HOXD3  Malacards:  HOXD3

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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IBA	biological process
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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	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:0005515	protein binding	IPI	molecular function
GO:0051216	cartilage development	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0021615	glossopharyngeal nerve morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016235	aggresome	IDA	cellular component
GO:0007160	cell-matrix adhesion	IDA	biological process
GO:0005634	nucleus	IC	cellular component
GO:0051216	cartilage development	ISS	biological process
GO:0030878	thyroid gland development	ISS	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0007219	Notch signaling pathway	IMP	biological process
GO:0006351	transcription, DNA-templated	IMP	biological process
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0048704	embryonic skeletal system morphogenesis	ISS	biological process

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)