NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)

2014-11-01 Affiliation

Identity

HGNC

NDUFA6

LOCATION

22q13.2

LOCUSID

4700

ALIAS

B14,CI-B14,LYRM6,MC1DN33,NADHB14

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: 4700
MIM: 602138
HGNC: 7690
Ensembl: ENSG00000184983

Variants:

dbSNP: 4700
ClinVar: 4700
TCGA: ENSG00000184983
COSMIC: NDUFA6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000184983	ENST00000470753	R4GN43
ENSG00000184983	ENST00000498737	P56556
ENSG00000184983	ENST00000617763	A0A2Y9D025

Expression (GTEx)

100

150

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 alpha subcomplex	KEGG	hsa_M00146
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex	KEGG	M00146
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

References

Pubmed ID	Year	Title	Citations
33931730	2021	A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.	13
33931730	2021	A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression.	13
20819778	2010	MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.	26
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20819778	2010	MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.	26
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19343046	2009	Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.	4
19343046	2009	Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.	4
18977241	2008	Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.	28
18977241	2008	Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.	28
17601350	2007	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	33
17601350	2007	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	33

Citation

Dessen P

NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70759/ndufa6-(nadh-ubiquinone-oxidoreductase-subunit-a6)