Property Summary

NCBI Gene PubMed Count 39
PubMed Score 263.68
PubTator Score 41.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
lung cancer 1.100 2.2e-02

Gene RIF (16)

PMID Text
26053550 Results found nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction.
24089531 NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
23266820 study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were compound heterozygotes for an undescribed E104A mutation in NDUFS2
22036843 The NDUFS2 mutation affects complex I enzymatic function.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20819849 Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
19064571 Observational study of gene-disease association. (HuGE Navigator)
18977241 Observational study of gene-disease association. (HuGE Navigator)
18682780 Observational study of gene-disease association. (HuGE Navigator)
17601350 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVD      1 - 70
PPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLD     71 - 140
YVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKM    141 - 210
FEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTA    211 - 280
EEALNYGFSGVMLRGSGIQWDLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNK    281 - 350
MPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY    351 - 420
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR                               421 - 463
//

Text Mined References (45)

PMID Year Title
26053550 2015 Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24838397 2014 The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
24344204 2014 TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24089531 2013 NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
23266820 2013 Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
22036843 2012 A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
21269460 2011 Initial characterization of the human central proteome.
21057504 2010 Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20819849 2010 The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
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.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20406883 2010 MidA is a putative methyltransferase that is required for mitochondrial complex I function.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19725078 2009 Proteomic analysis of increased Parkin expression and its interactants provides evidence for a role in modulation of mitochondrial function.
19688755 2009 LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
19463981 2009 Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
18977241 2008 Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
18682780 2008 Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.
17601350 2007 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
17209039 2007 Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15250827 2004 Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.
14749350 2004 Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12857734 2003 Oxidative damage to mitochondrial complex I due to peroxynitrite: identification of reactive tyrosines by mass spectrometry.
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.
11220739 2001 Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
11112787 2001 Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
9878551 1998 cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
9647766 1998 cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.
9585441 1998 Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria.
8895530 1996 A pancreatic cancer-specific expression profile.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
1832859 1991 NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA sequences of the import precursors of the nuclear-encoded 39 kDa and 42 kDa subunits.