PROFILBARU.COM

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)
End	54,934,485 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	93,102,914 bp
RNA expression pattern
	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
	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
	54352
	ENSG00000176842
	ENSMUSG00000031737
	P78411
	Q9JKQ4
	NM_001252197; NM_005853
	NM_018826
	NP_001239126; NP_005844
	NP_061296
	Wikidata
View/Edit Human	View/Edit Mouse

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]

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000176842 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031737 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse 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.