Property Summary

NCBI Gene PubMed Count 18
PubMed Score 20.37
PubTator Score 8.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.546 9.0e-04
Multiple myeloma 2.111 1.4e-04
ependymoma 1.100 4.9e-02
oligodendroglioma 1.100 3.9e-02
osteosarcoma 3.518 4.2e-08
juvenile dermatomyositis -1.059 3.0e-05
intraductal papillary-mucinous carcinoma... 1.300 4.1e-04
intraductal papillary-mucinous neoplasm ... 1.600 5.0e-03
colon cancer -1.400 6.8e-03
breast carcinoma 1.200 4.7e-02
Pick disease 1.100 1.4e-03
ovarian cancer 2.300 2.1e-04

Gene RIF (3)

PMID Text
23281071 These data indicate that a homozygous missense mutation in UQCRC2 causes moderately impaired CIII function and severely decreased amounts of CIII and supercomplex, which would be the primary molecular pathogenesis in the patients.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20677014 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLPNGLVIASLENYSPVSRIGLFIKAGSR      1 - 70
YEDFSNLGTTHLLRLTSSLTTKGASSFKITRGIEAVGGKLSVTATRENMAYTVECLRGDVDILMEFLLNV     71 - 140
TTAPEFRRWEVADLQPQLKIDKAVAFQNPQTHVIENLHAAAYRNALANPLYCPDYRIGKVTSEELHYFVQ    141 - 210
NHFTSARMALIGLGVSHPVLKQVAEQFLNMRGGLGLSGAKANYRGGEIREQNGDSLVHAAFVAESAVAGS    211 - 280
AEANAFSVLQHVLGAGPHVKRGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSGLFGIYTISQATAAGDV    281 - 350
IKAAYNQVKTIAQGNLSNTDVQAAKNKLKAGYLMSVESSECFLEEVGSQALVAGSYMPPSTVLQQIDSVA    351 - 420
NADIINAAKKFVSGQKSMAASGNLGHTPFVDEL                                         421 - 453
//

Text Mined References (22)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24174975 2013 Identification of Target Genes Involved in the Antiproliferative Effect of Enzyme-Modified Ginseng Extract in HepG2 Hepatocarcinoma Cell.
24130818 2013 Nutlin-3a decreases male fertility via UQCRC2.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23281071 2013 Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
21269460 2011 Initial characterization of the human central proteome.
21078624 2011 Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
19688755 2009 LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12067236 2002 Identification and characterization of a novel Nogo-interacting mitochondrial protein (NIMP).
8288258 1993 Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12.
2547763 1989 Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart.
2162168 1990 The primary structure of the precursor to core protein II, a putative member of mitochondrial processing protease family, of rat mitochondrial cytochrome bc1 complex deduced from cDNA sequence analysis.