NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)

2007-02-01  

Identity

HGNC
LOCATION
5q12.1
LOCUSID
ALIAS
B17.2L,MC1DN10,MMTN,NDUFA12L,mimitin
FUSION GENES

Other Information

Locus ID:

NCBI: 91942
MIM: 609653
HGNC: 28086
Ensembl: ENSG00000164182

Variants:

dbSNP: 91942
ClinVar: 91942
TCGA: ENSG00000164182
COSMIC: NDUFAF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164182ENST00000296597Q8N183
ENSG00000164182ENST00000296597A0A0S2Z5U1
ENSG00000164182ENST00000502658H0YA50
ENSG00000164182ENST00000511107D6RA56

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
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
203089902011Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.47
173839182007Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.23
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
157744662005A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma.11
193849742009Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.10
205719882010Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.6
273443552016Mitochondrial respiratory chain disorders in the Old Order Amish population.2
260335702015Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines.0

Citation

Dessen P

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45998/ndufaf2