COX6C (cytochrome c oxidase subunit VIc)

2004-04-01   Jean-Loup Huret , Sylvie Senon 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
8q22.2
LOCUSID
ALIAS
-
FUSION GENES

DNA/RNA

Description

The gene spans 15.5 kb; orientation : reverse strand; 4 exons; this cytochrome C oxidase subunit 6c is encoded by the nuclear DNA (some other subunits are encoded by the mitochondrial DNA).

Proteins

Expression

wide

Localisation

mitochondria (inner membrane)

Function

subunit of the cytochrome C oxidase (respiratory chain complex of the mitochondria); catalytic activity.

Implicated in

Entity name
Uterine fibromyoma
Disease
The most common benign tumors of the female genital tract.
Hybrid gene
HMGA2 HMGA2 exon 3 was found fused to COX6C exon 2 in one case without cytogenetic analysis; HMGA2 (previously named HMGIC), sitting in 12q15, is the most frequently involved gene in uterine leiomyoma.
Fusion protein
The 3 N-term DNA binding domains (AT hooks) of HMGA2 is fused to the C-term of COX6C

Bibliography

Pubmed IDLast YearTitleAuthors
106799202000Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a uterine leiomyoma.Kurose K et al
97527241998Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.Lenka N et al

Other Information

Locus ID:

NCBI: 1345
MIM: 124090
HGNC: 2285
Ensembl: ENSG00000164919

Variants:

dbSNP: 1345
ClinVar: 1345
TCGA: ENSG00000164919
COSMIC: COX6C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164919ENST00000297564P09669
ENSG00000164919ENST00000297564A0A024R9B7
ENSG00000164919ENST00000517682P09669
ENSG00000164919ENST00000517682A0A024R9B7
ENSG00000164919ENST00000518171P09669
ENSG00000164919ENST00000518171A0A024R9B7
ENSG00000164919ENST00000520271P09669
ENSG00000164919ENST00000520271A0A024R9B7
ENSG00000164919ENST00000520468P09669
ENSG00000164919ENST00000520468A0A024R9B7
ENSG00000164919ENST00000520517P09669
ENSG00000164919ENST00000520517A0A024R9B7
ENSG00000164919ENST00000522934P09669
ENSG00000164919ENST00000522934A0A024R9B7
ENSG00000164919ENST00000522940P09669
ENSG00000164919ENST00000522940A0A024R9B7
ENSG00000164919ENST00000523016P09669
ENSG00000164919ENST00000523016A0A024R9B7
ENSG00000164919ENST00000524245P09669
ENSG00000164919ENST00000524245A0A024R9B7

Expression (GTEx)

0
50
100
150

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
198431592009Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.31
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
252033532014Lung epithelial cells resist influenza A infection by inducing the expression of cytochrome c oxidase VIc which is modulated by miRNA 4276.13
228608932013Interleukin-24 mediates apoptosis in human B-cells through early activation of cell cycle arrest followed by late induction of the mitochondrial apoptosis pathway.2
295058342018Specific intron-dependent loading of DAZAP1 onto the cox6c transcript suppresses pre-mRNA splicing efficacy and induces cell growth retardation.0

Citation

Jean-Loup Huret ; Sylvie Senon

COX6C (cytochrome c oxidase subunit VIc)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/251/cox6c-(cytochrome-c-oxidase-subunit-vic)