NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)

2021-06-01  

Identity

HGNC
LOCATION
1q23.3
LOCUSID
ALIAS
CI-49,MC1DN6

Other Information

Locus ID:

NCBI: 4720
MIM: 602985
HGNC: 7708
Ensembl: ENSG00000158864

Variants:

dbSNP: 4720
ClinVar: 4720
TCGA: ENSG00000158864
COSMIC: NDUFS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158864ENST00000367993O75306
ENSG00000158864ENST00000392179O75306

Expression (GTEx)

0
50
100
150
200

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) Fe-S protein/flavoprotein complex, mitochondriaKEGGhsa_M00143
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondriaKEGGM00143
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
208198492010The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.28
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
240895312013NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.25
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
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
186827802008Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.16

Citation

Dessen P

NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58194/ndufs2