IRX5 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. 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. Defects in IRX5 are the cause of Hamamy syndrome (HMMS). A sydrome 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. Belongs to the TALE/IRO homeobox family. Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 16q12.2
Cellular Component:  nucleus
Molecular Function:  sequence-specific DNA binding; vitamin D binding
Biological Process:  embryonic cranial skeleton morphogenesis; gonad development; neuron maturation; regulation of heart rate; regulation of transcription from RNA polymerase II promoter; response to stimulus; retinal bipolar neuron differentiation; transcription, DNA-dependent; visual perception
Disease: Hamamy Syndrome
Reference #:  P78411 (UniProtKB)
Alt. Names/Synonyms: Homeodomain protein IRX-2A; Homeodomain protein IRXB2; iroquois homeobox 5; Iroquois homeobox protein 5; Iroquois-class homeodomain protein IRX-5; IRX-2a; IRX2A; IRX5; IRXB2
Gene Symbols: IRX5
Molecular weight: 50,361 Da
Basal Isoelectric point: 6.03  Predict pI for various phosphorylation states
Select Structure to View Below

IRX5

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene