• Gene id: 3216

Gene Summary

• Gene Symbol: HOXB6   Gene   UCSC   Ensembl
• Aliases: HOX2, HOX2B, HU-2, Hox-2.2
• Gene name: homeobox B6
• Alternate names: homeobox protein Hox-B6, homeo box 2B, homeo box B6, homeobox protein Hox-2.2, homeobox protein Hox-2B, homeobox protein Hu-2,
• Gene location: 17q21.32 (48604985: 48595735)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor
• OMIM: 0

Protein Summary

• Protein general information: P17509  
  • Name: Homeobox protein Hox B6 (Homeobox protein Hox 2.2) (Homeobox protein Hox 2B) (Homeobox protein Hu 2)
  • Length: 224  
  • Mass: 25432
• Sequence:

  MSSYFVNSTFPVTLASGQESFLGQLPLYSSGYADPLRHYPAPYGPGPGQDKGFATSSYYPPAGGGYGRAAPCDYG
  PAPAFYREKESACALSGADEQPPFHPEPRKSDCAQDKSVFGETEEQKCSTPVYPWMQRMNSCNSSSFGPSGRRGR
  QTYTRYQTLELEKEFHYNRYLTRRRRIEIAHALCLTERQIKIWFQNRRMKWKKESKLLSASQLSAEEEEEKQAE

• Structural information:
  • Interpro: IPR009057  IPR017995  IPR001827  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000420009
• Other Databases: GeneCards:  HOXB6  Malacards:  HOXB6

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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
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:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0048706	embryonic skeletal system development	IEA	biological process
GO:0034101	erythrocyte homeostasis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray