Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX6C (cytochrome c oxidase subunit VIc)

Identity

Other namesCytochrome c oxidase polypeptide VIc precursor
HGNC (Hugo) COX6C
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]

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

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
  

External links

Nomenclature
HGNC (Hugo)COX6C   2285
Cards
AtlasCOX6CID251
Entrez_Gene (NCBI)COX6C  1345  cytochrome c oxidase subunit VIc
GeneCards (Weizmann)COX6C
Ensembl (Hinxton)ENSG00000164919 [Gene_View]  chr8:100890223-100906242 [Contig_View]  COX6C [Vega]
AceView (NCBI)COX6C
Genatlas (Paris)COX6C
WikiGenes1345
SOURCE (Princeton)NM_004374
Genomic and cartography
GoldenPath (UCSC)COX6C  -  8q22.2   chr8:100890223-100906242 -  8q22.2   [Description]    (hg19-Feb_2009)
EnsemblCOX6C - 8q22.2 [CytoView]
Mapping of homologs : NCBICOX6C [Mapview]
OMIM124090   
Gene and transcription
Genbank (Entrez)AK311791 BC000187 BT007007 DQ890542 DQ896797
RefSeq transcript (Entrez)NM_004374
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NT_008046 NW_001839136 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 ]
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
HPRD00494
IPIIPI00015972   
Protein Interaction databases
DIP (DOE-UCLA)P09669
IntAct (EBI)P09669
FunCoupENSG00000164919
BioGRIDCOX6C
InParanoidP09669
Interologous Interaction database P09669
IntegromeDBCOX6C
STRING (EMBL)COX6C
Ontologies - Pathways
Ontology : AmiGOcytochrome-c oxidase activity  mitochondrial inner membrane  generation of precursor metabolites and energy  integral to membrane  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  
Ontology : EGO-EBIcytochrome-c oxidase activity  mitochondrial inner membrane  generation of precursor metabolites and energy  integral to membrane  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  
Pathways : KEGGOxidative phosphorylation    Cardiac muscle contraction    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
REACTOMECOX6C
Protein Interaction DatabaseCOX6C
Wikipedia pathwaysCOX6C
Gene fusion - rearrangments
Rearrangement : COSMICHMGA2 [12q14.3]  -  COX6C [8q22.2]
Rearrangement : TICdbCOX6C [8q22.2]  -  HMGA2 [12q14.3]
Rearrangement : TICdbHMGA2 [12q14.3]  -  COX6C [8q22.2]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COX6C
SNP (GeneSNP Utah)COX6C
SNP : HGBaseCOX6C
Genetic variants : HAPMAPCOX6C
1000_GenomesCOX6C 
ICGC programENSG00000164919 
Cancer Gene: CensusCOX6C 
Somatic Mutations in Cancer : COSMICCOX6C 
CONAN: Copy Number AnalysisCOX6C 
Mutations and Diseases : HGMDCOX6C
OMIM124090   
GENETestsCOX6C
Disease Genetic AssociationCOX6C
Huge Navigator COX6C [HugePedia]  COX6C [HugeCancerGEM]
Genomic VariantsCOX6C  COX6C [DGVbeta]
Exome VariantCOX6C
dbVarCOX6C
ClinVarCOX6C
snp3D : Map Gene to Disease1345
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
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
CoreMineCOX6C
iHOPCOX6C

Bibliography

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

Contributor(s)

Written04-2004Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . COX6C (cytochrome c oxidase subunit VIc). Atlas Genet Cytogenet Oncol Haematol. April 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/COX6CID251.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38067/1/04-2004-COX6CID251.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:33:38 CEST 2014

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