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COX6C (cytochrome c oxidase subunit VIc)

Written2004-04Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


LocusID (NCBI) 1345
Atlas_Id 251
Location 8q22.2
Location_base_pair Starts at 100890223 and ends at 100906242 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes
(updated 2016)
COX6C (8q22.2) / ADCY2 (5p15.31)COX6C (8q22.2) / AFF4 (5q31.1)COX6C (8q22.2) / DDX27 (20q13.13)
COX6C (8q22.2) / FURIN (15q26.1)COX6C (8q22.2) / HMGA2 (12q14.3)COX6C (8q22.2) / RGS22 (8q22.2)
FHL1 (Xq26.3) / COX6C (8q22.2)HMGA2 (12q14.3) / COX6C (8q22.2)OXR1 (8q23.1) / COX6C (8q22.2)


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).


Description 75 amino acids, 8.8 kDa; contains a transmembrane domain
Expression wide
Localisation mitochondria (inner membrane)
Function subunit of the cytochrome C oxidase (respiratory chain complex of the mitochondria); catalytic activity.

Implicated in

Entity Uterine fibromyoma
Disease The most common benign tumors of the female genital tract.
Hybrid/Mutated 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.
Abnormal Protein The 3 N-term DNA binding domains (AT hooks) of HMGA2 is fused to the C-term of COX6C


Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex.
Lenka N, Vijayasarathy C, Mullick J, Avadhani NG
Progress in nucleic acid research and molecular biology. 1998 ; 61 : 309-344.
PMID 9752724
Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a uterine leiomyoma.
Kurose K, Mine N, Doi D, Ota Y, Yoneyama K, Konishi H, Araki T, Emi M
Genes, chromosomes & cancer. 2000 ; 27 (3) : 303-307.
PMID 10679920


This paper should be referenced as such :
Huret, JL ; Senon, S
COX6C (cytochrome c oxidase subunit VIc)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):72-72.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Uterus: Leiomyoma
Lung: Translocations in Small Cell Carcinoma

External links

HGNC (Hugo)COX6C   2285
Entrez_Gene (NCBI)COX6C  1345  cytochrome c oxidase subunit 6C
GeneCards (Weizmann)COX6C
Ensembl hg19 (Hinxton)ENSG00000164919 [Gene_View]  chr8:100890223-100906242 [Contig_View]  COX6C [Vega]
Ensembl hg38 (Hinxton)ENSG00000164919 [Gene_View]  chr8:100890223-100906242 [Contig_View]  COX6C [Vega]
ICGC DataPortalENSG00000164919
TCGA cBioPortalCOX6C
Genatlas (Paris)COX6C
SOURCE (Princeton)COX6C
Genomic and cartography
GoldenPath hg19 (UCSC)COX6C  -     chr8:100890223-100906242 -  8q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COX6C  -     8q22.2   [Description]    (hg38-Dec_2013)
EnsemblCOX6C - 8q22.2 [CytoView hg19]  COX6C - 8q22.2 [CytoView hg38]
Mapping of homologs : NCBICOX6C [Mapview hg19]  COX6C [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK311791 BC000187 BT007007 DQ890542 DQ896797
RefSeq transcript (Entrez)NM_004374
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)COX6C
Cluster EST : UnigeneHs.351875 [ NCBI ]
CGAP (NCI)Hs.351875
Alternative Splicing GalleryENSG00000164919
Gene ExpressionCOX6C [ NCBI-GEO ]   COX6C [ EBI - ARRAY_EXPRESS ]   COX6C [ SEEK ]   COX6C [ MEM ]
Gene Expression Viewer (FireBrowse)COX6C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1345
GTEX Portal (Tissue expression)COX6C
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09669 (Uniprot)
NextProtP09669  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09669
Splice isoforms : SwissVarP09669 (Swissvar)
Domains : Interpro (EBI)COX6C   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain structure : Prodom (Prabi Lyon)Cyt_c_oxidase_su6c (PD015032)   
DMDM Disease mutations1345
Blocks (Seattle)COX6C
Human Protein AtlasENSG00000164919
Peptide AtlasP09669
Protein Interaction databases
IntAct (EBI)P09669
Ontologies - Pathways
Ontology : AmiGOcytochrome-c oxidase activity  mitochondrion  mitochondrial inner membrane  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  integral component of membrane  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  mitochondrion  mitochondrial inner membrane  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  integral component of membrane  hydrogen ion transmembrane transport  
Pathways : KEGGOxidative phosphorylation    Cardiac muscle contraction    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
REACTOMEP09669 [protein]
REACTOME PathwaysR-HSA-5628897 TP53 Regulates Metabolic Genes [pathway]
REACTOME PathwaysR-HSA-611105 Respiratory electron transport [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkCOX6C
Wikipedia pathwaysCOX6C
Orthology - Evolution
GeneTree (enSembl)ENSG00000164919
Phylogenetic Trees/Animal Genes : TreeFamCOX6C
Homologs : HomoloGeneCOX6C
Homology/Alignments : Family Browser (UCSC)COX6C
Gene fusions - Rearrangements
Fusion : MitelmanCOX6C/DDX27 [8q22.2/20q13.13]  
Fusion : MitelmanCOX6C/RGS22 [8q22.2/8q22.2]  [t(8;8)(q22;q22)]  
Fusion : MitelmanHMGA2/COX6C [12q14.3/8q22.2]  [t(8;12)(q22;q14)]  
Fusion : MitelmanOXR1/COX6C [8q23.1/8q22.2]  [inv(8)(q22q23)]  
Fusion : COSMICHMGA2 [12q14.3]  -  COX6C [8q22.2]  [fusion_985]  [fusion_986]  
Fusion: TCGACOX6C 8q22.2 DDX27 20q13.13 BRCA
Fusion: TCGACOX6C 8q22.2 RGS22 8q22.2 BRCA
Fusion : TICdbHMGA2 [12q14.3]  -  COX6C [8q22.2]
Polymorphisms : SNP, variants
NCBI Variation ViewerCOX6C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX6C
Exome Variant ServerCOX6C
ExAC (Exome Aggregation Consortium)COX6C (select the gene name)
Genetic variants : HAPMAP1345
Genomic Variants (DGV)COX6C [DGVbeta]
ICGC Data PortalCOX6C 
TCGA Data PortalCOX6C 
Broad Tumor PortalCOX6C
OASIS PortalCOX6C [ Somatic mutations - Copy number]
Cancer Gene: CensusCOX6C 
Somatic Mutations in Cancer : COSMICCOX6C 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COX6C
DgiDB (Drug Gene Interaction Database)COX6C
DoCM (Curated mutations)COX6C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX6C (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)8:100890223-100906242  ENSG00000164919
CONAN: Copy Number AnalysisCOX6C 
Mutations and Diseases : HGMDCOX6C
Genetic Testing Registry COX6C
NextProtP09669 [Medical]
Huge Navigator COX6C [HugePedia]
snp3D : Map Gene to Disease1345
BioCentury BCIQCOX6C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1345
Chemical/Pharm GKB GenePA26802
Clinical trialCOX6C
canSAR (ICR)COX6C (select the gene name)
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 30 13:55:36 CEST 2016

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