COX4I2 information

COX4I2
Identifiers
Aliases	COX4I2, COX4, COX4-2, COX4B, COX4L2, COXIV-2, dJ857M17.2, cytochrome c oxidase subunit 4I2
External IDs	OMIM: 607976; MGI: 2135755; HomoloGene: 13082; GeneCards: COX4I2; OMA:COX4I2 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	31,645,006 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	152,606,957 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right lung; ; upper lobe of left lung; ; oocyte; ; left ventricle; ; placenta; ; right auricle; ; subcutaneous adipose tissue; ; myocardium of left ventricle; ; right lobe of thyroid gland;
	Top expressed in
	neural layer of retina; ; embryo; ; morula; ; genital tubercle; ; zygote; ; hair; ; tail of embryo; ; cumulus cell; ; embryo; ; molar;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	cytochrome-c oxidase activity;
Cellular component	mitochondrial inner membrane; membrane; mitochondrion; mitochondrial respiratory chain complex IV; mitochondrial membranes;
Biological process	cellular respiration; mitochondrial electron transport, cytochrome c to oxygen; generation of precursor metabolites and energy; proton transmembrane transport; cellular response to hypoxia;
	Sources:Amigo / QuickGO
Orthologs
	84701
	84682
	ENSG00000131055
	ENSMUSG00000009876
	Q96KJ9
	Q91W29
	NM_032609
	NM_053091
	NP_115998
	NP_444321
	Wikidata
View/Edit Human	View/Edit Mouse

Cytochrome c oxidase subunit 4 isoform 2, mitochondrial is an enzyme that in humans is encoded by the COX4I2 gene.^[5]^[6] COX4I2 is a nuclear-encoded isoform of cytochrome c oxidase (COX) subunit 4. Cytochrome c oxidase (complex IV) is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane, acting as the terminal enzyme of the mitochondrial respiratory chain. Mutations in COX4I2 have been associated with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (EPIDACH).^[7]^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131055 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000009876 – 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.
^ Hüttemann M, Kadenbach B, Grossman LI (April 2001). "Mammalian subunit IV isoforms of cytochrome c oxidase". Gene. 267 (1): 111–23. doi:10.1016/S0378-1119(01)00385-7. PMID 11311561.
^ Hüttemann M, Lee I, Liu J, Grossman LI (November 2007). "Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element". The FEBS Journal. 274 (21): 5737–48. doi:10.1111/j.1742-4658.2007.06093.x. PMID 17937768. S2CID 46455551.
^ "Entrez Gene: COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)". This article incorporates text from this source, which is in the public domain.
^ Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O (March 2009). "Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene". American Journal of Human Genetics. 84 (3): 412–7. doi:10.1016/j.ajhg.2009.02.006. PMC 2668012. PMID 19268275.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000131055 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000009876 – 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.

[pmid11311561-5] Hüttemann M, Kadenbach B, Grossman LI (April 2001). "Mammalian subunit IV isoforms of cytochrome c oxidase". Gene. 267 (1): 111–23. doi:10.1016/S0378-1119(01)00385-7. PMID 11311561.

[pmid17937768-6] Hüttemann M, Lee I, Liu J, Grossman LI (November 2007). "Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element". The FEBS Journal. 274 (21): 5737–48. doi:10.1111/j.1742-4658.2007.06093.x. PMID 17937768. S2CID 46455551.

[entrez-7] "Entrez Gene: COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)". This article incorporates text from this source, which is in the public domain.

[:0-8] Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O (March 2009). "Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene". American Journal of Human Genetics. 84 (3): 412–7. doi:10.1016/j.ajhg.2009.02.006. PMC 2668012. PMID 19268275.

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