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 0.001
Multiple myeloma 2.111 0.000
ependymoma 1.100 0.049
oligodendroglioma 1.100 0.039
osteosarcoma 3.518 0.000
juvenile dermatomyositis -1.059 0.000
intraductal papillary-mucinous carcinoma... 1.300 0.000
intraductal papillary-mucinous neoplasm ... 1.600 0.005
colon cancer -1.400 0.007
breast carcinoma 1.200 0.047
Pick disease 1.100 0.001
ovarian cancer 2.300 0.000

Synonym

Accession P22695 B3KSN4 Q9BQ05
Symbols QCR2
UQCR2
MC3DN5

Gene

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.
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