IRX5

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.^[5][6]

IRX5
Identifiers
Aliases	IRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
External IDs	OMIM: 606195; MGI: 1859086; GeneCards: IRX5; OMA:IRX5 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.2 Start 54,930,865 bp[1] End 54,934,485 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 C5|8 44.93 cM Start 93,084,253 bp[2] End 93,102,914 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh bronchial epithelial cell skin of abdomen right ventricle lactiferous duct skin of hip parotid gland muscle of thigh apex of heart vulva Top expressed in endocardium of atrium molar maxillary prominence endocardium of ventricle vestibular membrane of cochlear duct lacrimal gland Meckel's cartilage conjunctival fornix masseter muscle left lung lobe 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 54352 Ensembl ENSG00000176842 ENSMUSG00000031737 UniProt P78411 Q9JKQ4 RefSeq (mRNA) NM_001252197 NM_005853 NM_018826 RefSeq (protein) NP_001239126 NP_005844 NP_061296 Location (UCSC) Chr 16: 54.93 – 54.93 Mb Chr 8: 93.08 – 93.1 Mb PubMed search [3] [4]
Wikidata
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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.^[5] 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. ^[7]