InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IRX5

Summary

InnateDB Protein

IDBP-241189.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IRX5

Protein Name

iroquois homeobox 5

Synonyms

HMMS; IRX-2a; IRXB2;

Species

Homo sapiens

Ensembl Protein

ENSP00000378132

InnateDB Gene

IDBG-31208 (IRX5)

Protein Structure

UniProt Annotation

Function

Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12. {ECO:0000250, ECO:0000269PubMed:22581230}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Hamamy syndrome (HMMS) [MIM:611174]: A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. {ECO:0000269PubMed:22581230}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005499	vitamin D binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0002027	regulation of heart rate
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007601	visual perception
GO:0008406	gonad development
GO:0010468	regulation of gene expression
GO:0042551	neuron maturation
GO:0048468	cell development
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0050896	response to stimulus
GO:0060040	retinal bipolar neuron differentiation