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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) Band 16q12.2 Start 54,930,865 bp End 54,934,485 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 C5|8 44.93 cM Start 93,084,253 bp End 93,102,914 bp
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
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.

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. 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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000176842 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031737 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: iroquois homeobox 1".
6. 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.
7. 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.

Further reading

• Lewis MT, Ross S, Strickland PA, Snyder CJ, Daniel CW (June 1999). "Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast". Cell and Tissue Research. 296 (3): 549–54. doi:10.1007/s004410051316. PMID 10370142. S2CID 37046813.
• Bruneau BG (March 2006). "[Irx5: a transcription factor that regulates the cardiac repolarization gradient]". Médecine/Sciences. 22 (3): 231–2. doi:10.1051/medsci/2006223231. PMID 16527195.
• Myrthue A, Rademacher BL, Pittsenbarger J, Kutyba-Brooks B, Gantner M, Qian DZ, Beer TM (June 2008). "The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells". Clinical Cancer Research. 14 (11): 3562–70. doi:10.1158/1078-0432.CCR-07-4649. PMID 18519790.
• Kanno S, Kuzuoka H, Sasao S, Hong Z, Lan L, Nakajima S, Yasui A (April 2007). "A novel human AP endonuclease with conserved zinc-finger-like motifs involved in DNA strand break responses". The EMBO Journal. 26 (8): 2094–103. doi:10.1038/sj.emboj.7601663. PMC 1852789. PMID 17396150.

External links

• IRX5 human gene location in the UCSC Genome Browser.
• IRX5 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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