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 0.022

Synonym

Accession O75306 D3DVG7 J3KPM7 Q5VTW0 Q969P3 Q9UEV3
Symbols CI-49

Gene

PANTHER Protein Class (2)

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)
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AA Sequence

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