COX6A2 (cytochrome c oxidase subunit 6A2)

2003-05-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
COX6AH,COXVIAH,MC4DN18
FUSION GENES

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

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-(cytochrome-c-oxidase-subunit-6a2)