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
230281382012Impact of an exercise intervention on DNA methylation in skeletal muscle from first-degree relatives of patients with type 2 diabetes.113
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
268884272016Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.10
215095942011Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.6

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