NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)

2018-07-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
CI-23k,CI23KD,MC1DN2,TYKY

Other Information

Locus ID:

NCBI: 4728
MIM: 602141
HGNC: 7715
Ensembl: ENSG00000110717

Variants:

dbSNP: 4728
ClinVar: 4728
TCGA: ENSG00000110717
COSMIC: NDUFS8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110717ENST00000313468O00217
ENSG00000110717ENST00000453471F8W9K7
ENSG00000110717ENST00000524810H0YDT4
ENSG00000110717ENST00000525419E9PKH6
ENSG00000110717ENST00000525628E9PN51
ENSG00000110717ENST00000526339E9PPW7
ENSG00000110717ENST00000526446E9PJY7
ENSG00000110717ENST00000528492Q08E91
ENSG00000110717ENST00000529645H0YCB2
ENSG00000110717ENST00000531228E9PML5

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
151595082004Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.14
275161452016The opposite prognostic effect of NDUFS1 and NDUFS8 in lung cancer reflects the oncojanus role of mitochondrial complex I.6
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3

Citation

Dessen P

NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57464/ndufs8