Property Summary

NCBI Gene PubMed Count 38
PubMed Score 27.43
PubTator Score 36.11

Knowledge Summary

Patent

No data available

Expression

 MGI Phenotype (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)
20551160 The results show mitochondrial haplotypes associated with polymorphism of this gene are associated with elite middle and sprint power endurance in Japanese athletes
19913121 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19328558 Observational study of gene-disease association. (HuGE Navigator)
19194776 Data show that the haplotype consisting of rs6506640 (-342G > A) and rs906807 (86C > T) on the mitochondrial gene NDUFV2 is found to be associated with bipolar disorder.
19194776 Observational study of gene-disease association. (HuGE Navigator)
19165527 Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
19135101 This study found that the expressions of NDUFV2 were up-regulated in those from patients with Japanese bipolar II disorder and the mRNA levels of this gene were down-regulated in Caucasian schizophrenia.
19064571 Observational study of gene-disease association. (HuGE Navigator)
19034380 This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
18977241 Observational study of gene-disease association. (HuGE Navigator)
18199248 genetic variants of NDUFV2 may increase risk for bipolar disorder.
18199248 Observational study of gene-disease association. (HuGE Navigator)
17786189 Sp1 was abnormally expressed in schizophrenia and its mRNA alteration pattern paralleled that of NDUFV1 and NDUFV2 in schizophrenic patients.
17601350 Observational study of gene-disease association. (HuGE Navigator)
16784756 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16508936 Observational study of gene-disease association. (HuGE Navigator)
16508936 NDUFV2 individual genotypes were not associated with schizophrenia, but the haplotype consisting of the two single nucleotide polymorphisms were significantly associated with schizophrenia.
15450783 Observational study of gene-disease association. (HuGE Navigator)
15450783 Polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder. The association of the haplotypes -602G> A and -3542G> A polymorphisms with bipolar disorder was seen both in Japanese case-control samples and NIMH trios.
12815743 Observational study of gene-disease association. (HuGE Navigator)
12815743 Polymorphisms of this gene may be one of the genetic risk factors for bipolar disorder.
12754703 mutation causes early onset hypertrophic cardiomyopathy and encephalopathy
12391372 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

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.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20551160 2011 Mitochondrial haplogroups associated with elite Japanese athlete status.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19328558 2009 Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
19194776 2009 Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population.
19165527 2009 Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
19135101 2009 Expression of mitochondrial complex I subunit gene NDUFV2 in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
19034380 2009 Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
18977241 2008 Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
18199248 2008 Further support for association of the mitochondrial complex I subunit gene NDUFV2 with bipolar disorder.
17786189 2007 Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.
17601350 2007 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
16784756 2006 Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16508936 2006 Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15450783 2004 Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees.
12815743 2003 Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder.
12754703 2003 Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12391372 2002 Mitochondrial complex I polymorphism and cigarette smoking in Parkinson's disease.
9878551 1998 cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
9763677 1998 Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.
9570948 1998 Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease.
7607668 1995 Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene.
7488192 1995 Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain.
2500970 1989 Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit.