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
Entrez_Gene (NCBI)COX6C  1345  cytochrome c oxidase subunit VIc
Cards
AtlasCOX6CID251
GeneCards (Weizmann)COX6C
Ensembl (Hinxton)ENSG00000164919 [Gene_View]  chr8:100890223-100906242 [Contig_View]  COX6C [Vega]
AceView (NCBI)COX6C
Genatlas (Paris)COX6C
SOURCE (Stanford)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 (SRS)NM_004374
RefSeq transcript (Entrez)NM_004374
RefSeq genomic (SRS)AC_000140 NC_000008 NC_018919 NT_008046 NW_001839136 NW_004078037
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NT_008046 NW_001839136 NW_004078037
Consensus coding sequences : CCDS (NCBI)COX6C
Cluster EST : UnigeneHs.351875 [ SRS ] Hs.351875 [ NCBI ]
CGAP (NCI)Hs.351875
Alternative Splicing : Fast-db (Paris)GSHG0029741
Alternative Splicing GalleryENSG00000164919
Gene ExpressionCOX6C [ NCBI-GEO ]   COX6C [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09669 (SRS) P09669 (Uniprot)
NextProtP09669
With graphics : InterProP09669
Splice isoforms : SwissVarP09669(Swissvar)
Domains : Interpro (SRS)Cyt_c_oxidase_su6c   
Domains : Interpro (EBI)Cyt_c_oxidase_su6c   
Related proteins : CluSTrP09669
Domain families : Pfam (SRS)COX6C (PF02937)   
Domain families : Pfam (Sanger)COX6C (PF02937)   
Domain families : Pfam (NCBI)pfam02937   
Domain structure : Prodom (Prabi Lyon)Cyt_c_oxidase_su6c (PD015032)   
DMDM1345
Blocks (Seattle)P09669
Human Protein AtlasENSG00000164919
HPRD00494
IPIIPI00015972   
Protein Interaction databases
DIP (DOE-UCLA)P09669
IntAct (EBI)P09669
FunCoupENSG00000164919
REACTOMECOX6C
Protein Interaction Database1345
BioGRIDCOX6C
InParanoidP09669
Interologous Interaction database P09669
IntegromeDBCOX6C
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COX6C
SNP (GeneSNP Utah)COX6C
SNP : HGBaseCOX6C
Genetic variants : HAPMAPCOX6C
Cancer Gene: CensusCOX6C 
Somatic Mutations in Cancer : COSMICCOX6C 
CONAN: Copy Number AnalysisCOX6C 
Rearrangement : COSMICHMGA2 [12q14.3]  -  COX6C [8q22.2]
Translocation Breakpoints in Cancer : TICdbCOX6C 
Mutations and Diseases : HGMDCOX6C
OMIM124090   
GENETests124090   
Disease Genetic AssociationCOX6C
Huge Navigator COX6C [HugePedia]  COX6C [HugeCancerGEM]
Genomic VariantsCOX6C  COX6C [DGVbeta]
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
Ontology : AmiGOcytochrome-c oxidase activity  mitochondrial inner membrane  generation of precursor metabolites and energy  integral to membrane  respiratory electron transport chain  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  small molecule metabolic process  
Pathways : KEGGOxidative phosphorylation
Other databases
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
PubGeneCOX6C
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

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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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38067/1/04-2004-COX6CID251.pdf   [ Bibliographic record ]

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indexed on : Wed May 1 13:05:15 CEST 2013
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