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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)

Identity

Alias (NCBI)Cytochrome c oxidase polypeptide VIc precursor
HGNC (Hugo) COX6C
HGNC Previous namecytochrome c oxidase subunit VIc
LocusID (NCBI) 1345
Atlas_Id 251
Location 8q22.2  [Link to chromosome band 8q22]
Location_base_pair Starts at 99877865 and ends at 99893707 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping COX6C.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)

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).

Protein

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

Note
  
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
  

Bibliography

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
 
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
 

Citation

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 ]


External links

 

Nomenclature
HGNC (Hugo)COX6C   2285
Cards
AtlasCOX6CID251
Entrez_Gene (NCBI)COX6C    cytochrome c oxidase subunit 6C
Aliases
GeneCards (Weizmann)COX6C
Ensembl hg19 (Hinxton)ENSG00000164919 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164919 [Gene_View]  ENSG00000164919 [Sequence]  chr8:99877865-99893707 [Contig_View]  COX6C [Vega]
ICGC DataPortalENSG00000164919
TCGA cBioPortalCOX6C
AceView (NCBI)COX6C
Genatlas (Paris)COX6C
SOURCE (Princeton)COX6C
Genetics Home Reference (NIH)COX6C
Genomic and cartography
GoldenPath hg38 (UCSC)COX6C  -     chr8:99877865-99893707 -  8q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COX6C  -     8q22.2   [Description]    (hg19-Feb_2009)
GoldenPathCOX6C - 8q22.2 [CytoView hg19]  COX6C - 8q22.2 [CytoView hg38]
ImmunoBaseENSG00000164919
Genome Data Viewer NCBICOX6C [Mapview hg19]  
OMIM124090   
Gene and transcription
Genbank (Entrez)AK311791 BC000187 BT007007 GQ901011 S82616
RefSeq transcript (Entrez)NM_004374
Consensus coding sequences : CCDS (NCBI)COX6C
Gene ExpressionCOX6C [ NCBI-GEO ]   COX6C [ EBI - ARRAY_EXPRESS ]   COX6C [ SEEK ]   COX6C [ MEM ]
Gene Expression Viewer (FireBrowse)COX6C [ Firebrowse - Broad ]
GenevisibleExpression of COX6C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1345
GTEX Portal (Tissue expression)COX6C
Human Protein AtlasENSG00000164919-COX6C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09669   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09669  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09669
PhosPhoSitePlusP09669
Domains : Interpro (EBI)COX6C    Cytochrome_c_oxidase_VIc/VIIs    Cytochrome_c_oxidase_VIc_sf   
Domain families : Pfam (Sanger)COX6C (PF02937)   
Domain families : Pfam (NCBI)pfam02937   
Conserved Domain (NCBI)COX6C
PDB (RSDB)5Z62   
PDB Europe5Z62   
PDB (PDBSum)5Z62   
PDB (IMB)5Z62   
Structural Biology KnowledgeBase5Z62   
SCOP (Structural Classification of Proteins)5Z62   
CATH (Classification of proteins structures)5Z62   
SuperfamilyP09669
AlphaFold pdb e-kbP09669   
Human Protein Atlas [tissue]ENSG00000164919-COX6C [tissue]
HPRD00494
Protein Interaction databases
DIP (DOE-UCLA)P09669
IntAct (EBI)P09669
BioGRIDCOX6C
STRING (EMBL)COX6C
ZODIACCOX6C
Ontologies - Pathways
QuickGOP09669
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  integral component of membrane  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  integral component of membrane  
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-611105 [pathway]   
NDEx NetworkCOX6C
Atlas of Cancer Signalling NetworkCOX6C
Wikipedia pathwaysCOX6C
Orthology - Evolution
OrthoDB1345
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]  
Fusion : MitelmanHMGA2::COX6C [12q14.3/8q22.2]  
Fusion : MitelmanOXR1::COX6C [8q23.1/8q22.2]  
Fusion : COSMICHMGA2 [12q14.3]  -  COX6C [8q22.2]  [fusion_985]  
Fusion : FusionGDB1.9.3.1   
Fusion : QuiverCOX6C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX6C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX6C
dbVarCOX6C
ClinVarCOX6C
MonarchCOX6C
1000_GenomesCOX6C 
Exome Variant ServerCOX6C
GNOMAD BrowserENSG00000164919
Varsome BrowserCOX6C
ACMGCOX6C variants
VarityP09669
Genomic Variants (DGV)COX6C [DGVbeta]
DECIPHERCOX6C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOX6C 
Mutations
ICGC Data PortalCOX6C 
TCGA Data PortalCOX6C 
Broad Tumor PortalCOX6C
OASIS PortalCOX6C [ Somatic mutations - Copy number]
Cancer Gene: CensusCOX6C 
Somatic Mutations in Cancer : COSMICCOX6C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOX6C
Mutations and Diseases : HGMDCOX6C
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCOX6C
DgiDB (Drug Gene Interaction Database)COX6C
DoCM (Curated mutations)COX6C
CIViC (Clinical Interpretations of Variants in Cancer)COX6C
NCG (London)COX6C
Cancer3DCOX6C
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM124090   
Orphanet
DisGeNETCOX6C
MedgenCOX6C
Genetic Testing Registry COX6C
NextProtP09669 [Medical]
GENETestsCOX6C
Target ValidationCOX6C
Huge Navigator COX6C [HugePedia]
ClinGenCOX6C
Clinical trials, drugs, therapy
MyCancerGenomeCOX6C
Protein Interactions : CTDCOX6C
Pharm GKB GenePA26802
PharosP09669
Clinical trialCOX6C
Miscellaneous
canSAR (ICR)COX6C
HarmonizomeCOX6C
DataMed IndexCOX6C
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOX6C
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:15:21 CEST 2021

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