COX14 (cytochrome c oxidase assembly factor COX14)

2017-01-01  

Identity

HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
C12orf62,MC4DN10,PCAG1

Other Information

Locus ID:

NCBI: 84987
MIM: 614478
HGNC: 28216
Ensembl: ENSG00000178449

Variants:

dbSNP: 84987
ClinVar: 84987
TCGA: ENSG00000178449
COSMIC: COX14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178449ENST00000317943Q96I36
ENSG00000178449ENST00000548985Q96I36
ENSG00000178449ENST00000550487Q96I36
ENSG00000178449ENST00000550654Q96I36

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
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
256040842015Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.31
256040842015Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.31
232924322013Identification of PCAG1 as a novel prostate cancer-associated gene.1
232924322013Identification of PCAG1 as a novel prostate cancer-associated gene.1
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

COX14 (cytochrome c oxidase assembly factor COX14)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56717/cox14-(cytochrome-c-oxidase-assembly-factor-cox14)