Property Summary

NCBI Gene PubMed Count 38
PubMed Score 27.43
PubTator Score 36.11

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P19404 Q9BV41
Symbols CI-24k

Gene

PANTHER Protein Class (2)

 MGI Term (1)

Gene RIF (34)

PMID Text
26544616 haplotype T-C consisting of rs12457810 and rs12964485 in the 5'-upstream region of NDUFV2 may be a protective factor for the development of MDD in Han Chinese
26008862 We have identified NDUFV2 mutations in two families with Complex I deficiency, including a novel mutation.
21548921 The mitochondrial targeting sequence of NDUFV2 is located at the N-terminus of the precursor protein. Impairment of mitochondrial localization of NDUFV2 as a mechanistic basis for early-onset hypertrophic cardiomyopathy and encephalopathy was established.
21190551 There is no statistical significance between NDUFV2 gene promoter variants and susceptibility to schizophrenia in Han Chinese.
20978456 Three single nucleotide polymorphisms in the NDUFV2 gene, were studies in bipolar disorder pateints and controls.
20978456 Observational study of gene-disease association. (HuGE Navigator)
20971673 Our findings suggest further studies addressing the role of NDUFV2 variation in Parkinson's disease may be warranted.
20971673 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
More...

AA Sequence

MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNY      1 - 70
PEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPC     71 - 140
MLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKA    141 - 210
GKIPKPGPRSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL                                   211 - 249
//

Text Mined References (42)

PMID Year Title
26544616 2016 A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese.
26008862 2015 Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
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.
22823520 2012 Mitochondrial c-Src regulates cell survival through phosphorylation of respiratory chain components.
21548921 2011 Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.
21269460 2011 Initial characterization of the human central proteome.
21190551 2010 Common promoter variants of the NDUFV2 gene do not confer susceptibility to schizophrenia in Han Chinese.
20978456 2011 Association study of polymorphisms in the autosomal mitochondrial complex I subunit gene, NADH dehydrogenase (ubiquinone) flavoprotein 2, and bipolar disorder.
20971673 2010 Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease.
More...