NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

2014-11-01 Affiliation

Identity

HGNC

NDUFA2

LOCATION

5q31.3

LOCUSID

4695

ALIAS

B8,CD14,CIB8,MC1DN13

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: 4695
MIM: 602137
HGNC: 7685
Ensembl: ENSG00000131495

Variants:

dbSNP: 4695
ClinVar: 4695
TCGA: ENSG00000131495
COSMIC: NDUFA2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131495	ENST00000252102	O43678
ENSG00000131495	ENST00000512088	O43678

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 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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28857146	2018	Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.	6
28857146	2018	Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.	6
20713893	2010	Internalization and coreceptor expression are critical for TLR2-mediated recognition of lipoteichoic acid in human peripheral blood.	23
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20713893	2010	Internalization and coreceptor expression are critical for TLR2-mediated recognition of lipoteichoic acid in human peripheral blood.	23
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
15341729	2004	The oxidized subunit B8 from human complex I adopts a thioredoxin fold.	11
15341729	2004	The oxidized subunit B8 from human complex I adopts a thioredoxin fold.	11

Citation

Dessen P

NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70754