COX8A (cytochrome c oxidase subunit 8A)

2007-04-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
COX,COX8,COX8-2,COX8L,MC4DN15,VIII,VIII-L
FUSION GENES

Other Information

Locus ID:

NCBI: 1351
MIM: 123870
HGNC: 2294
Ensembl: ENSG00000176340

Variants:

dbSNP: 1351
ClinVar: 1351
TCGA: ENSG00000176340
COSMIC: COX8A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176340ENST00000314133P10176
ENSG00000176340ENST00000314133Q53XN1

Expression (GTEx)

0
100
200
300
400
500
600
700
800

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
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
266851572016Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.9

Citation

Dessen P

COX8A (cytochrome c oxidase subunit 8A)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47192/cox8a