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    NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 [ Homo sapiens (human) ]

    Gene ID: 4729, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.

    Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.
    Wang Z, Chen L, Li Q, Zhang H, Shan Y, Qi L, Wang H, Chen Y., Free PMC Article

    11/5/2022
    Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.

    Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
    Liu Z, Zhang L, Ren C, Xu M, Li S, Ban R, Wu Y, Chen L, Sun S, Elstner M, Shimura M, Ogawa-Tominaga M, Murayama K, Shi T, Prokisch H, Fang F., Free PMC Article

    04/30/2022
    Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.

    Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
    Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y.

    03/26/2022
    Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.

    Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.
    Chella Krishnan K, Vergnes L, Acín-Pérez R, Stiles L, Shum M, Ma L, Mouisel E, Pan C, Moore TM, Péterfy M, Romanoski CE, Reue K, Björkegren JLM, Laakso M, Liesa M, Lusis AJ., Free PMC Article

    01/8/2022
    Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.

    Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.
    Zhang H, Shao Y, Chen W, Chen X., Free PMC Article

    09/25/2021
    NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia.

    NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia.
    Bergman O, Karry R, Milhem J, Ben-Shachar D.

    02/20/2021
    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

    A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese.
    Zhang Z, Ni J, Zhang J, Tang W, Li X, Wu Z, Zhang C.

    08/13/2016
    We have identified NDUFV2 mutations in two families with Complex I deficiency, including a novel mutation.

    Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
    Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A.

    02/27/2016
    The results show mitochondrial haplotypes associated with polymorphism of this gene are associated with elite middle and sprint power endurance in Japanese athletes

    Mitochondrial haplogroups associated with elite Japanese athlete status.
    Mikami E, Fuku N, Takahashi H, Ohiwa N, Scott RA, Pitsiladis YP, Higuchi M, Kawahara T, Tanaka M.

    02/11/2012
    There is no statistical significance between NDUFV2 gene promoter variants and susceptibility to schizophrenia in Han Chinese.

    Common promoter variants of the NDUFV2 gene do not confer susceptibility to schizophrenia in Han Chinese.
    Zhang W, Chen X, Gong W, Tang J, Tan L, Guo H, Yao YG., Free PMC Article

    11/5/2011
    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.

    Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.
    Liu HY, Liao PC, Chuang KT, Kao MC., Free PMC Article

    10/8/2011
    Three single nucleotide polymorphisms in the NDUFV2 gene, were studies in bipolar disorder pateints and controls.

    Association study of polymorphisms in the autosomal mitochondrial complex I subunit gene, NADH dehydrogenase (ubiquinone) flavoprotein 2, and bipolar disorder.
    Doyle GA, Dahl JP, Bloch PJ, Weller AE, Lohoff FW, Ferraro TN, Berrettini WH, Doyle GA, Dahl JP, Bloch PJ, Weller AE, Lohoff FW, Ferraro TN, Berrettini WH., Free PMC Articles: PMC3073549, PMC3073549

    05/14/2011
    Our findings suggest further studies addressing the role of NDUFV2 variation in Parkinson's disease may be warranted.

    Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease.
    Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ, Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ., Free PMC Articles: PMC4381965, PMC4381965

    03/19/2011
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Sp1 was abnormally expressed in schizophrenia and its mRNA alteration pattern paralleled that of NDUFV1 and NDUFV2 in schizophrenic patients.

    Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.
    Ben-Shachar D, Karry R., Free PMC Article

    06/14/2010
    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.

    Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population.
    Zhang J, Li X, Wang Y, Ji J, Yang F, Feng G, Wan P, Lindpaintner K, He L, He G, Zhang J, Li X, Wang Y, Ji J, Yang F, Feng G, Wan P, Lindpaintner K, He L, He G.

    01/21/2010
    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.

    Expression of mitochondrial complex I subunit gene NDUFV2 in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia.
    Washizuka S, Iwamoto K, Kakiuchi C, Bundo M, Kato T.

    01/21/2010
    Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.

    Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Maccarrone G, Dias-Neto E, Turck CW.

    01/28/2009
    This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.

    Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
    Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Marangoni S, Novello JC, Maccarrone G, Turck CW, Dias-Neto E.

    12/15/2008
    genetic variants of NDUFV2 may increase risk for bipolar disorder.

    Further support for association of the mitochondrial complex I subunit gene NDUFV2 with bipolar disorder.
    Xu C, Li PP, Kennedy JL, Green M, Hughes B, Cooke RG, Parikh SV, Warsh JJ, Xu C, Li PP, Kennedy JL, Green M, Hughes B, Cooke RG, Parikh SV, Warsh JJ.

    01/21/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)

    Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease.
    Swerdlow RH, Weaver B, Grawey A, Wenger C, Freed E, Worrall BB., Free PMC Article

    03/13/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (14) articles

    Association study of polymorphisms in the autosomal mitochondrial complex I subunit gene, NADH dehydrogenase (ubiquinone) flavoprotein 2, and bipolar disorder.
    Doyle GA, Dahl JP, Bloch PJ, Weller AE, Lohoff FW, Ferraro TN, Berrettini WH, Doyle GA, Dahl JP, Bloch PJ, Weller AE, Lohoff FW, Ferraro TN, Berrettini WH.

    Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease.
    Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ, Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ.

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium.

    Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    Saito A, Kawamoto M, Kamatani N.

    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.
    Yosifova A, Mushiroda T, Stoianov D, Vazharova R, Dimova I, Karachanak S, Zaharieva I, Milanova V, Madjirova N, Gerdjikov I, Tolev T, Velkova S, Kirov G, Owen MJ, O'Donovan MC, Toncheva D, Nakamura Y.

    Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population.
    Zhang J, Li X, Wang Y, Ji J, Yang F, Feng G, Wan P, Lindpaintner K, He L, He G, Zhang J, Li X, Wang Y, Ji J, Yang F, Feng G, Wan P, Lindpaintner K, He L, He G.

    Polymorphisms in mitochondrial genes and prostate cancer risk.
    Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN.

    Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
    Starr JM, Shiels PG, Harris SE, Pattie A, Pearce MS, Relton CL, Deary IJ.

    Further support for association of the mitochondrial complex I subunit gene NDUFV2 with bipolar disorder.
    Xu C, Li PP, Kennedy JL, Green M, Hughes B, Cooke RG, Parikh SV, Warsh JJ, Xu C, Li PP, Kennedy JL, Green M, Hughes B, Cooke RG, Parikh SV, Warsh JJ.

    A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
    Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ, Deary IJ.

    Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population.
    Washizuka S, Kametani M, Sasaki T, Tochigi M, Umekage T, Kohda K, Kato T.

    Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees.
    Washizuka S, Iwamoto K, Kazuno AA, Kakiuchi C, Mori K, Kametani M, Yamada K, Kunugi H, Tajima O, Akiyama T, Nanko S, Yoshikawa T, Kato T.

    Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder.
    Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, Akiyama T, Nanko S, Kato T, Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, Akiyama T, Nanko S, Kato T.

    03/13/2008
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Mitochondrial complex I polymorphism and cigarette smoking in Parkinson's disease.
    Tan EK, Chai A, Zhao Y, Lum SY, Fook-Chong SM, Teoh ML, Yih Y, Pavanni R, Wong MC.

    03/13/2008
    Polymorphisms of this gene may be one of the genetic risk factors for bipolar disorder.

    Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder.
    Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, Akiyama T, Nanko S, Kato T, Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, Akiyama T, Nanko S, Kato T.

    01/21/2010
    mutation causes early onset hypertrophic cardiomyopathy and encephalopathy

    Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
    Bénit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rötig A, Munnich A.

    01/21/2010
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