UQCRC2

UQCRC2 is located on the p arm of chromosome 16 in position 12.2 and has 14 exons. The UQCRC2 gene produces a 48.4 kDa protein composed of 453 amino acids.{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}{{Cite web|url=https://amino.heartproteome.org/web/protein/P22695|title=Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) —— Protein Information|last=Yao|first=Daniel|website=amino.heartproteome.org|access-date=2018-07-30}} UQCRC2 belongs to the peptidase M16 family and UQCRC2/QCR2 subfamily. UQCRC2 has a transit peptide domain. Ubiquinol Cytochrome c Reductase (b-c1 complex) contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).{{cite journal | title = UniProt: the universal protein knowledgebase | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D158–D169 | date = January 2017 | pmid = 27899622 | pmc = 5210571 | doi = 10.1093/nar/gkw1099 }}{{Cite web|url=https://www.uniprot.org/uniprot/P22695|title=UQCRC2 - Cytochrome b-c1 complex subunit 2, mitochondrial precursor - Homo sapiens (Human) - UQCRC2 gene & protein|website=www.uniprot.org|language=en|access-date=2018-07-30}} UQCRC2 is part of the hydrophobic core of the b-c1 complex and is necessary for the stabilization of Ubiquinol Cytochrome c Reductase.

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. The core protein UQCRC2 is required for the assembly and stabilization of the complex.

Variants of UQCRC2 have been associated with mitochondrial complex III deficiency, nuclear, type 5. Mitochondrial complex III deficiency nuclear type 5 is a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness, exercise intolerance, lactic acidosis and hypoglycemia. Homozygous mutations resulting in a change from Arginine to Tryptophan at position 183 have been associated with mitochondrial complex III deficiency due to UQCRC2 dysfunction. Autosomal recessive inheritance has been proposed as a transmission pattern.{{OMIM|615160}}{{cite journal | vauthors = Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N | title = Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation | journal = Human Mutation | volume = 34 | issue = 3 | pages = 446–52 | date = March 2013 | pmid = 23281071 | doi = 10.1002/humu.22257 | s2cid = 21652222 | doi-access = free }}{{cite journal | vauthors = Gaignard P, Eyer D, Lebigot E, Oliveira C, Therond P, Boutron A, Slama A | title = UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia | journal = Journal of Human Genetics | volume = 62 | issue = 7 | pages = 729–731 | date = July 2017 | pmid = 28275242 | doi = 10.1038/jhg.2017.22 | s2cid = 4343047 }}

UQCRC2 has 98 protein-protein interactions with 90 of them being co-complex interactions. CAC1A, QCR1, UQCRC1, CACNA1A, STOM, a8k1f4, HLA-B, ARF6, and Mapk3 have been found to interact with UQCRC2.{{cite web | url = https://www.ebi.ac.uk/intact/interactions?conversationContext=3&query=UQCRC2 | title = 113 binary interactions found for search term UQCRC2 | work = IntAct Molecular Interaction Database | publisher = EMBL-EBI | access-date = 2018-08-25 }}

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Category:Human proteins