Property Summary

NCBI Gene PubMed Count 16
PubMed Score 10.99
PubTator Score 6.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
ependymoma 1.300 0.031
osteosarcoma -1.105 0.001
medulloblastoma, large-cell -1.300 0.000
non-small cell lung cancer 1.154 0.000
intraductal papillary-mucinous neoplasm ... 1.400 0.011
group 3 medulloblastoma 1.100 0.004
invasive ductal carcinoma 1.600 0.007
ovarian cancer 1.200 0.000

Synonym

Accession Q9Y3A0 A8WBK8 B2R958 Q5T4B8 Q96EW4
Symbols CGI-92
COQ10D7

Gene

Gene RIF (6)

PMID Text
26185144 five recessive missense mutations in COQ4 segregating with lethal neonatal mitochondrial encephalomyopathy in four families of Ashkenzi Jews
25658047 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
22368301 Haploinsufficiency in COQ4 resulted in reduced COQ4 expression, CoQ10 content and biosynthetic rate, and activities of respiratory chain complex II+III.
20877624 Observational study of gene-disease association. (HuGE Navigator)
18474229 Human ortholog of Saccharomyces cerevisiae COQ4 was cloned and characterized.
11469793 homologous to Coq4p in S.cerevisiae

AA Sequence

MATLLRPVLRRLCGLPGLQRPAAEMPLRARSDGAGPLYSHHLPTSPLQKGLLAAGSAAMALYNPYRHDMV      1 - 70
AVLGETTGHRTLKVLRDQMRRDPEGAQILQERPRISTSTLDLGKLQSLPEGSLGREYLRFLDVNRVSPDT     71 - 140
RAPTRFVDDEELAYVIQRYREVHDMLHTLLGMPTNILGEIVVKWFEAVQTGLPMCILGAFFGPIRLGAQS    141 - 210
LQVLVSELIPWAVQNGRRAPCVLNLYYERRWEQSLRALREELGITAPPMHVQGLA                   211 - 265
//

Text Mined References (19)

PMID Year Title
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
25126048 2014 Genetics of coenzyme q10 deficiency.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
16381901 2006 The LIFEdb database in 2006.
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