NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

2014-11-01  

Identity

HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
B8,CD14,CIB8,MC1DN13

Other Information

Locus ID:

NCBI: 4695
MIM: 602137
HGNC: 7685
Ensembl: ENSG00000131495

Variants:

dbSNP: 4695
ClinVar: 4695
TCGA: ENSG00000131495
COSMIC: NDUFA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131495ENST00000252102O43678
ENSG00000131495ENST00000512088O43678

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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 alpha subcomplexKEGGhsa_M00146
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) 1 alpha subcomplexKEGGM00146
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
207138932010Internalization and coreceptor expression are critical for TLR2-mediated recognition of lipoteichoic acid in human peripheral blood.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
153417292004The oxidized subunit B8 from human complex I adopts a thioredoxin fold.10
288571462018Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.3

Citation

Dessen P

NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70754/ndufa2