Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
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If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
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COX6C (cytochrome c oxidase subunit VIc)


Other namesCytochrome c oxidase polypeptide VIc precursor
LocusID (NCBI) 1345
Location 8q22.2
Location_base_pair Starts at 100890223 and ends at 100906242 bp from pter ( according to hg19-Feb_2009)  [Mapping]


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

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065

External links

HGNC (Hugo)COX6C   2285
Entrez_Gene (NCBI)COX6C  1345  cytochrome c oxidase subunit VIc
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
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 : Fast-db (Paris)GSHG0029741
Alternative Splicing GalleryENSG00000164919
Gene ExpressionCOX6C [ NCBI-GEO ]     COX6C [ SEEK ]   COX6C [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09669 (Uniprot)
NextProtP09669  [Medical]
With graphics : InterProP09669
Splice isoforms : SwissVarP09669 (Swissvar)
Domains : Interpro (EBI)COX6C   
Related proteins : CluSTrP09669
Domain families : Pfam (Sanger)COX6C (PF02937)   
Domain families : Pfam (NCBI)pfam02937   
Domain structure : Prodom (Prabi Lyon)Cyt_c_oxidase_su6c (PD015032)   
DMDM Disease mutations1345
Blocks (Seattle)P09669
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  integral component of membrane  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  transmembrane transport  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  mitochondrion  mitochondrial inner membrane  generation of precursor metabolites and energy  integral component of membrane  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  transmembrane transport  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 PathwaysREACT_111217 Metabolism [pathway]
Protein Interaction DatabaseCOX6C
DoCM (Curated mutations)COX6C
Wikipedia pathwaysCOX6C
Gene fusion - rearrangements
Rearrangement : COSMICHMGA2 [12q14.3]  -  COX6C [8q22.2]
Rearrangement : TICdbHMGA2 [12q14.3]  -  COX6C [11q13.3]
Polymorphisms : SNP, variants
NCBI Variation ViewerCOX6C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX6C
Exome Variant ServerCOX6C
Genetic variants : HAPMAPCOX6C
Genomic Variants (DGV)COX6C [DGVbeta]
ICGC Data PortalENSG00000164919 
Cancer Gene: CensusCOX6C 
Somatic Mutations in Cancer : COSMICCOX6C 
CONAN: Copy Number AnalysisCOX6C 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)8:100890223-100906242
Mutations and Diseases : HGMDCOX6C
NextProtP09669 [Medical]
Disease Genetic AssociationCOX6C
Huge Navigator COX6C [HugePedia]  COX6C [HugeCancerGEM]
snp3D : Map Gene to Disease1345
DGIdb (Drug Gene Interaction db)COX6C
General knowledge
Homologs : HomoloGeneCOX6C
Homology/Alignments : Family Browser (UCSC)COX6C
Phylogenetic Trees/Animal Genes : TreeFamCOX6C
Chemical/Protein Interactions : CTD1345
Chemical/Pharm GKB GenePA26802
Clinical trialCOX6C
Cancer Resource (Charite)ENSG00000164919
Other databases
PubMed22 Pubmed reference(s) in Entrez


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
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI


Written04-2004Jean-Loup Huret, Sylvie Senon


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 ]

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indexed on : Sat Mar 28 12:39:24 CET 2015

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