• Gene id: 10265

Gene Summary

• Gene Symbol: IRX5   Gene   UCSC   Ensembl
• Aliases: HMMS, IRX-2a, IRXB2
• Gene name: iroquois homeobox 5
• Alternate names: iroquois-class homeodomain protein IRX-5, homeodomain protein IRX-2A, homeodomain protein IRXB2,
• Gene location: 16q12.2 (54930864: 54934484)     Exons: 4     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negativel
• OMIM: 606195

Protein Summary

• Protein general information: P78411  
  • Name: Iroquois class homeodomain protein IRX 5 (Homeodomain protein IRX 2A) (Homeodomain protein IRXB2) (Iroquois homeobox protein 5)
  • Length: 483  
  • Mass: 50361
• Sequence:

  MSYPQGYLYQPSASLALYSCPAYSTSVISGPRTDELGRSSSGSAFSPYAGSTAFTAPSPGYNSHLQYGADPAAAA
  AAAFSSYVGSPYDHTPGMAGSLGYHPYAAPLGSYPYGDPAYRKNATRDATATLKAWLNEHRKNPYPTKGEKIMLA
  IITKMTLTQVSTWFANARRRLKKENKMTWTPRNRSEDEEEEENIDLEKNDEDEPQKPEDKGDPEGPEAGGAEQKA
  ASGCERLQGPPTPAGKETEGSLSDSDFKEPPSEGRLDALQGPPRTGGPSPAGPAAARLAEDPAPHYPAGAPAPGP
  HPAAGEVPPGPGGPSVIHSPPPPPPPAVLAKPKLWSLAEIATSSDKVKDGGGGNEGSPCPPCPGPIAGQALGGSR
  ASPAPAPSRSPSAQCPFPGGTVLSRPLYYTAPFYPGYTNYGSFGHLHGHPGPGPGPTTGPGSHFNGLNQTVLNRA
  DALAKDPKMLRSQSQLDLCKDSPYELKKGMSDI

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR008422  IPR003893  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000378132
• Other Databases: GeneCards:  IRX5  Malacards:  IRX5

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:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IMP	biological process
GO:0008406	gonad development	IMP	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:0005499	vitamin D binding	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0042551	neuron maturation	IEA	biological process
GO:0060040	retinal bipolar neuron differentiation	IEA	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Hamamy syndrome	KEGG:H02234
Hamamy syndrome	KEGG:H02234
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 25108383
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25108383	Hypospadias	rs17208368		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS