COX6A2 (cytochrome c oxidase subunit 6A2)

2003-05-01  

Identity

HGNC
COX6A2
LOCATION
16p11.2
LOCUSID
1339
ALIAS
COX6AH,COXVIAH,MC4DN18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1339
MIM: 602009
HGNC: 2279
Ensembl: ENSG00000156885

Variants:

dbSNP: 1339
ClinVar: 1339
TCGA: ENSG00000156885
COSMIC: COX6A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156885ENST00000287490Q02221

Expression (GTEx)

0
500
1000
1500
2000
2500
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

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932

References

Pubmed IDYearTitleCitations
311557432019COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.0

Citation

Dessen P

COX6A2 (cytochrome c oxidase subunit 6A2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40136/cox6a2