NDUFB6 (NADH:ubiquinone oxidoreductase subunit B6)

2015-10-01 Affiliation

Identity

HGNC

NDUFB6

LOCATION

9p21.1

LOCUSID

4712

ALIAS

B17,CI

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4712
MIM: 603322
HGNC: 7701
Ensembl: ENSG00000165264

Variants:

dbSNP: 4712
ClinVar: 4712
TCGA: ENSG00000165264
COSMIC: NDUFB6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000165264	ENST00000350021	O95139
ENSG00000165264	ENST00000366466	A0A087WZX2
ENSG00000165264	ENST00000379847	O95139

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
NADH dehydrogenase (ubiquinone) 1 beta subcomplex	KEGG	hsa_M00147
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
NADH dehydrogenase (ubiquinone) 1 beta subcomplex	KEGG	M00147
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105
Complex I biogenesis	REACTOME	R-HSA-6799198

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17948130	2007	Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle.	60
19265027	2009	Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes.	23
19265027	2009	Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes.	23
19064571	2008	Polymorphisms in mitochondrial genes and prostate cancer risk.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
25902503	2015	Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I.	13
25315157	2015	Downregulation of NDUFB6 due to 9p24.1-p13.3 loss is implicated in metastatic clear cell renal cell carcinoma.	6
21964293	2011	The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines.	4

Citation

Dessen P

NDUFB6 (NADH:ubiquinone oxidoreductase subunit B6)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55431/ndufb6