• Gene id: 50805

Gene Summary

• Gene Symbol: IRX4   Gene   UCSC   Ensembl
• Aliases: IRXA3
• Gene name: iroquois homeobox 4
• Alternate names: iroquois-class homeodomain protein IRX-4, homeodomain protein IRXA3, iroquois homeobox protein 4,
• Gene location: 5p15.33 (1887178: 1877412)     Exons: 8     NC_000005.10
• OMIM: 606199

Protein Summary

• Protein general information: P78413  
  • Name: Iroquois class homeodomain protein IRX 4 (Homeodomain protein IRXA3) (Iroquois homeobox protein 4)
  • Length: 519  
  • Mass: 54445
  • Tissue specificity: Predominantly expressed in cardiac ventricles.
• Sequence:

  MSYPQFGYPYSSAPQFLMATNSLSTCCESGGRTLADSGPAASAQAPVYCPVYESRLLATARHELNSAAALGVYGG
  PYGGSQGYGNYVTYGSEASAFYSLNSFDSKDGSGSAHGGLAPAAAAYYPYEPALGQYPYDRYGTMDSGTRRKNAT
  RETTSTLKAWLQEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWPPRNKCADEKRPYAEGE
  EEEGGEEEAREEPLKSSKNAEPVGKEEKELELSDLDDFDPLEAEPPACELKPPFHSLDGGLERVPAAPDGPVKEA
  SGALRMSLAAGGGAALDEDLERARSCLRSAAAGPEPLPGAEGGPQVCEAKLGFVPAGASAGLEAKPRIWSLAHTA
  TAAAAAATSLSQTEFPSCMLKRQGPAAPAAVSSAPATSPSVALPHSGALDRHQDSPVTSLRNWVDGVFHDPILRH
  STLNQAWATAKGALLDPGPLGRSLGAGANVLTAPLARAFPPAVPQDAPAAGAARELLALPKAGGKPFCA

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR008422  IPR003893  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000482393
• Other Databases: GeneCards:  IRX4  Malacards:  IRX4

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: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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007507	heart development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048561	establishment of animal organ orientation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray