NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)

2014-11-01  

Identity

HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
B12,CI-B12,MC1DN25

Other Information

Locus ID:

NCBI: 4709
MIM: 603839
HGNC: 7698
Ensembl: ENSG00000119013

Variants:

dbSNP: 4709
ClinVar: 4709
TCGA: ENSG00000119013
COSMIC: NDUFB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119013ENST00000237889O43676
ENSG00000119013ENST00000237889A0A024R413
ENSG00000119013ENST00000433898O43676
ENSG00000119013ENST00000433898A0A024R413
ENSG00000119013ENST00000450023C9JKQ2
ENSG00000119013ENST00000454214O43676
ENSG00000119013ENST00000454214A0A024R413

Expression (GTEx)

0
50
100
150

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
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
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6

Citation

Dessen P

NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70774/ndufb3