Property Summary

NCBI Gene PubMed Count 29
Grant Count 20
R01 Count 8
Funding $782,782.47
PubMed Score 127.78
PubTator Score 82.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.675 0.001
glioblastoma 1.700 0.001
intraductal papillary-mucinous neoplasm ... 1.300 0.002
subependymal giant cell astrocytoma 2.096 0.008
ovarian cancer 1.600 0.000

Gene RIF (19)

PMID Text
26098829 The V393A variant in the COQ2 gene increases risk of PD.
26096180 Results indicated that COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to multiple system atrophy
25613861 This case-control study shows no evidence for an association between ALS and the V393A variant of COQ2 in Han Chinese.
25594503 This study demonstrated that COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese.
25373618 Multiple system atrophy due to recessive COQ2 mutations (including exon dosage) was not observed in our study
24262183 The recessive COQ2 mutations recently were nominated to be the genetic cause in a subset of familial and sporadic MSA cases.
23758206 Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease.
23343605 A novel homozygous mutation in COQ2 (c.905C>T,p.Ala302Val) found in dizygotic twins is linked to fatal infantile multisystem disease.
22490322 [review] Primary CoQ10 deficiency is due to defects in CoQ10 biosynthesis, while secondary forms are due to other causes.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MLGSRAAGFARGLRALALAWLPGWRGRSFALARAAGAPHGGDLQPPACPEPRGRQLSLSAAAVVDSAPRP      1 - 70
LQPYLRLMRLDKPIGTWLLYLPCTWSIGLAAEPGCFPDWYMLSLFGTGAILMRGAGCTINDMWDQDYDKK     71 - 140
VTRTANRPIAAGDISTFQSFVFLGGQLTLALGVLLCLNYYSIALGAGSLLLVITYPLMKRISYWPQLALG    141 - 210
LTFNWGALLGWSAIKGSCDPSVCLPLYFSGVMWTLIYDTIYAHQDKRDDVLIGLKSTALRFGENTKPWLS    211 - 280
GFSVAMLGALSLVGVNSGQTAPYYAALGAVGAHLTHQIYTLDIHRPEDCWNKFISNRTLGLIVFLGIVLG    281 - 350
NLWKEKKTDKTKKGIENKIEN                                                     351 - 371
//

Text Mined References (29)

PMID Year Title
27493029 2016 The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
26098829 2015 Association of the COQ2 V393A Variant with Parkinson's Disease: A Case-Control Study and Meta-Analysis.
26096180 2015 Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy.
25613861 2015 Lack of evidence for an association between the V393A variant of COQ2 and amyotrophic lateral sclerosis in a Han Chinese population.
25594503 2015 COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese.
25373618 2014 Analysis of COQ2 gene in multiple system atrophy.
24262183 2014 Update on novel familial forms of Parkinson's disease and multiple system atrophy.
23758206 2013 Mutations in COQ2 in familial and sporadic multiple-system atrophy.
23343605 2013 A novel mutation in COQ2 leading to fatal infantile multisystem disease.
22490322 2012 Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
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