• Gene id: 3199

Gene Summary

• Gene Symbol: HOXA2   Gene   UCSC   Ensembl
• Aliases: HOX1K, MCOHI
• Gene name: homeobox A2
• Alternate names: homeobox protein Hox-A2, homeobox protein Hox-1K,
• Gene location: 7p15.2 (27102682: 27100353)     Exons: 2     NC_000007.14
• Gene summary(Entrez): In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo
• OMIM: 604685

Protein Summary

• Protein general information: O43364  
  • Name: Homeobox protein Hox A2 (Homeobox protein Hox 1K)
  • Length: 376  
  • Mass: 41002
• Sequence:

  MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLNPGSHPRHGAGGRPKP
  SPAGSRGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAAATGPACLSHKESLEIADGSGGGSRRLRTAY
  TNTQLLELEKEFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEE
  DEEEKTLFEQALSVSGALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLST
  MGQNCGAGLNNDSPEALEVPSLQDFSVFSTDSCLQLSDAVSPSLPGSLDSPVDISADSLDFFTDTLTTIDLQHLN
  Y

• Structural information:
  • Interpro: IPR009057  IPR001827  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000222718
• Other Databases: GeneCards:  HOXA2  Malacards:  HOXA2

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	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
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: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:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0001709	cell fate determination	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0048703	embryonic viscerocranium morphogenesis	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0021569	rhombomere 3 development	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0007379	segment specification	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0002076	osteoblast development	IEA	biological process
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:0071300	cellular response to retinoic acid	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0035284	brain segmentation	IEA	biological process
GO:0021658	rhombomere 3 morphogenesis	IEA	biological process
GO:0021568	rhombomere 2 development	IEA	biological process
GO:0008045	motor neuron axon guidance	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Microtia hearing impairment and cleft palate	KEGG:H01286
Microtia hearing impairment and cleft palate	KEGG:H01286
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)