IRX5 Knowpia

IRX5
Identifiers
Aliases	IRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
External IDs	OMIM: 606195 GeneCards: IRX5
Gene location (Human)
Chr.	Chromosome 16 (human)
End	54,934,485 bp
RNA expression pattern
	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
	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
	10265
	n/a
	ENSG00000176842
	n/a
	P78411
	n/a
	NM_001252197; NM_005853
	n/a
	NP_001239126; NP_005844
	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 edit

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]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176842 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: iroquois homeobox 1".
^ Ogura K, Matsumoto K, Kuroiwa A, Isobe T, Otoguro T, Jurecic V, et al. (2001). "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenetics and Cell Genetics. 92 (3–4): 320–5. doi:10.1159/000056921. PMID 11435706. S2CID 46509502.
^ Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, et al. (May 2012). "Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1". Nature Genetics. 44 (6): 709–13. doi:10.1038/ng.2259. PMID 22581230. S2CID 5535474.