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 3.1e-02
osteosarcoma -1.105 5.6e-04
medulloblastoma, large-cell -1.300 1.3e-05
non-small cell lung cancer 1.154 1.9e-11
intraductal papillary-mucinous neoplasm ... 1.400 1.1e-02
group 3 medulloblastoma 1.100 4.0e-03
invasive ductal carcinoma 1.600 6.7e-03
ovarian cancer 1.200 1.4e-05

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.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
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.
11469793 2001 Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.