NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9)

2016-08-01  

Identity

HGNC
LOCATION
8q24.13
LOCUSID
ALIAS
B22,CI-B22,LYRM3,MC1DN24,UQOR22
FUSION GENES

Other Information

Locus ID:

NCBI: 4715
MIM: 601445
HGNC: 7704
Ensembl: ENSG00000147684

Variants:

dbSNP: 4715
ClinVar: 4715
TCGA: ENSG00000147684
COSMIC: NDUFB9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147684ENST00000276689Q9Y6M9
ENSG00000147684ENST00000517367E9PH64
ENSG00000147684ENST00000518008E7EWZ0
ENSG00000147684ENST00000522532E9PF49
ENSG00000147684ENST00000606244A0A3B3IT57

Expression (GTEx)

0
50
100
150
200
250
300

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
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
222009942012Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.24
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
266414582015Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism.12

Citation

Dessen P

NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55858/ndufb9