• Gene id: 79190

Gene Summary

• Gene Symbol: IRX6   Gene   UCSC   Ensembl
• Aliases: IRX-3, IRX7, IRXB3
• Gene name: iroquois homeobox 6
• Alternate names: iroquois-class homeodomain protein IRX-6, homeodomain protein IRXB3, iroquois homeobox protein 6, iroquois homeobox protein 7,
• Gene location: 16q12.2 (55323759: 55330759)     Exons: 6     NC_000016.10
• OMIM: 606196

Protein Summary

• Protein general information: P78412  
  • Name: Iroquois class homeodomain protein IRX 6 (Homeodomain protein IRXB3) (Iroquois homeobox protein 6)
  • Length: 446  
  • Mass: 48240
• Sequence:

  MSFPHFGHPYRGASQFLASASSSTTCCESTQRSVSDVASGSTPAPALCCAPYDSRLLGSARPELGAALGIYGAPY
  AAAAAAQSYPGYLPYSPEPPSLYGALNPQYEFKEAAGSFTSSLAQPGAYYPYERTLGQYQYERYGAVELSGAGRR
  KNATRETTSTLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWAPKNKGGEERKAE
  GGEEDSLGCLTADTKEVTASQEARGLRLSDLEDLEEEEEEEEEAEDEEVVATAGDRLTEFRKGAQSLPGPCAAAR
  EGRLERRECGLAAPRFSFNDPSGSEEADFLSAETGSPRLTMHYPCLEKPRIWSLAHTATASAVEGAPPARPRPRS
  PECRMIPGQPPASARRLSVPRDSACDESSCIPKAFGNPKFALQGLPLNCAPCPRRSEPVVQCQYPSGAEAG

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR008422  IPR003893  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000290552
• Other Databases: GeneCards:  IRX6  Malacards:  IRX6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0030182	neuron differentiation	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
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: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: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:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Hypospadias	MIK: 25108383
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30063927	Hypospadias	rs6499755	Japanes e	169 cases	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25108383	Hypospadias	rs6499755		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS