NDUFC2 (NADH:ubiquinone oxidoreductase subunit C2)

2011-04-01  

Identity

HGNC
LOCATION
11q14.1
LOCUSID
ALIAS
B14.5b,CI-B14.5b,HLC-1,MC1DN36,NADHDH2

Other Information

Locus ID:

NCBI: 4718
MIM: 603845
HGNC: 7706
Ensembl: ENSG00000151366

Variants:

dbSNP: 4718
ClinVar: 4718
TCGA: ENSG00000151366
COSMIC: NDUFC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151366ENST00000281031O95298
ENSG00000151366ENST00000281031A0A024R5K6
ENSG00000151366ENST00000525085O95298
ENSG00000151366ENST00000527806O95298
ENSG00000151366ENST00000528164E9PM14
ENSG00000151366ENST00000534029E9PRJ5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
NADH dehydrogenase (ubiquinone) 1 beta subcomplexKEGGhsa_M00147
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) 1 beta subcomplexKEGGM00147
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375063152023NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.1
375589952023Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.3
375063152023NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3.1
375589952023Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.3
329695982020Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.11
329695982020Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.11
308086032019The reduction of NDUFC2 expression is associated with mitochondrial impairment in circulating mononuclear cells of patients with acute coronary syndrome.12
308086032019The reduction of NDUFC2 expression is associated with mitochondrial impairment in circulating mononuclear cells of patients with acute coronary syndrome.12
289736572017In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.13
289736572017In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.13
268884272016Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.22
268884272016Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.22
258042382015Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma.10
258042382015Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma.10
230281382012Impact of an exercise intervention on DNA methylation in skeletal muscle from first-degree relatives of patients with type 2 diabetes.165

Citation

Dessen P

NDUFC2 (NADH:ubiquinone oxidoreductase subunit C2)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52196/ndufc2