IRX5
Identifiers
Aliases	IRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
External IDs	OMIM: 606195 GeneCards: IRX5
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.2 Start 54,930,865 bp[1] End 54,934,485 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell skin of abdomen right ventricle lactiferous duct parotid gland vulva minor salivary gland left ventricle nipple tibia n/a More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding DNA binding vitamin D binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process retinal bipolar neuron differentiation regulation of gene expression embryonic cranial skeleton morphogenesis regulation of transcription, DNA-templated gonad development cell development transcription, DNA-templated regulation of heart rate visual perception neuron maturation response to stimulus regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10265 n/a Ensembl ENSG00000176842 n/a UniProt P78411 n/a RefSeq (mRNA) NM_001252197 NM_005853 n/a RefSeq (protein) NP_001239126 NP_005844 n/a Location (UCSC) Chr 16: 54.93 – 54.93 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Iroquois-class homeodomain protein IRX-5, also known as Iroquois homeobox protein 5, is a protein that in humans is encoded by the IRX5 gene.^[3][4]

Function

IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.^[3] First described in a 2012 study by Reversade and colleagues, the loss of IRX5 in humans causes Hamamy Syndrome, a recessive developmental disorder mainly affecting the heart, long bones, and craniofacial structures. ^[5]