Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX6A2 (cytochrome c oxidase subunit 6A2)

Identity

Alias_namescytochrome c oxidase subunit VIa polypeptide 2
Other aliasCOX6AH
COXVIAH
HGNC (Hugo) COX6A2
LocusID (NCBI) 1339
Atlas_Id 40136
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 31427731 and ends at 31428428 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COX6A2 (16p11.2) / MYL3 (3p21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)COX6A2   2279
Cards
Entrez_Gene (NCBI)COX6A2  1339  cytochrome c oxidase subunit 6A2
AliasesCOX6AH; COXVIAH
GeneCards (Weizmann)COX6A2
Ensembl hg19 (Hinxton)ENSG00000156885 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156885 [Gene_View]  chr16:31427731-31428428 [Contig_View]  COX6A2 [Vega]
ICGC DataPortalENSG00000156885
TCGA cBioPortalCOX6A2
AceView (NCBI)COX6A2
Genatlas (Paris)COX6A2
WikiGenes1339
SOURCE (Princeton)COX6A2
Genetics Home Reference (NIH)COX6A2
Genomic and cartography
GoldenPath hg38 (UCSC)COX6A2  -     chr16:31427731-31428428 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COX6A2  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblCOX6A2 - 16p11.2 [CytoView hg19]  COX6A2 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBICOX6A2 [Mapview hg19]  COX6A2 [Mapview hg38]
OMIM602009   
Gene and transcription
Genbank (Entrez)BC029818 BP319904 DQ890561 DQ893723 F27891
RefSeq transcript (Entrez)NM_005205
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COX6A2
Cluster EST : UnigeneHs.250760 [ NCBI ]
CGAP (NCI)Hs.250760
Alternative Splicing GalleryENSG00000156885
Gene ExpressionCOX6A2 [ NCBI-GEO ]   COX6A2 [ EBI - ARRAY_EXPRESS ]   COX6A2 [ SEEK ]   COX6A2 [ MEM ]
Gene Expression Viewer (FireBrowse)COX6A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1339
GTEX Portal (Tissue expression)COX6A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02221   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02221  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02221
Splice isoforms : SwissVarQ02221
PhosPhoSitePlusQ02221
Domaine pattern : Prosite (Expaxy)COX6A (PS01329)   
Domains : Interpro (EBI)Cyt_c_oxidase_su6a    Cyt_c_oxidase_su6a_CS   
Domain families : Pfam (Sanger)COX6A (PF02046)   
Domain families : Pfam (NCBI)pfam02046   
Domain structure : Prodom (Prabi Lyon)Cyt_c_oxidase_su6a (PD006036)   
Conserved Domain (NCBI)COX6A2
DMDM Disease mutations1339
Blocks (Seattle)COX6A2
SuperfamilyQ02221
Human Protein AtlasENSG00000156885
Peptide AtlasQ02221
HPRD03598
IPIIPI00293876   
Protein Interaction databases
DIP (DOE-UCLA)Q02221
IntAct (EBI)Q02221
FunCoupENSG00000156885
BioGRIDCOX6A2
STRING (EMBL)COX6A2
ZODIACCOX6A2
Ontologies - Pathways
QuickGOQ02221
Ontology : AmiGOcytochrome-c oxidase activity  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  aerobic respiration  enzyme regulator activity  regulation of catalytic activity  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  aerobic respiration  enzyme regulator activity  regulation of catalytic activity  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   
NDEx NetworkCOX6A2
Atlas of Cancer Signalling NetworkCOX6A2
Wikipedia pathwaysCOX6A2
Orthology - Evolution
OrthoDB1339
GeneTree (enSembl)ENSG00000156885
Phylogenetic Trees/Animal Genes : TreeFamCOX6A2
HOVERGENQ02221
HOGENOMQ02221
Homologs : HomoloGeneCOX6A2
Homology/Alignments : Family Browser (UCSC)COX6A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX6A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX6A2
dbVarCOX6A2
ClinVarCOX6A2
1000_GenomesCOX6A2 
Exome Variant ServerCOX6A2
ExAC (Exome Aggregation Consortium)COX6A2 (select the gene name)
Genetic variants : HAPMAP1339
Genomic Variants (DGV)COX6A2 [DGVbeta]
DECIPHERCOX6A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOX6A2 
Mutations
ICGC Data PortalCOX6A2 
TCGA Data PortalCOX6A2 
Broad Tumor PortalCOX6A2
OASIS PortalCOX6A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX6A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX6A2
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 COX6A2
DgiDB (Drug Gene Interaction Database)COX6A2
DoCM (Curated mutations)COX6A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX6A2 (select a term)
intoGenCOX6A2
Cancer3DCOX6A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602009   
Orphanet
MedgenCOX6A2
Genetic Testing Registry COX6A2
NextProtQ02221 [Medical]
TSGene1339
GENETestsCOX6A2
Huge Navigator COX6A2 [HugePedia]
snp3D : Map Gene to Disease1339
BioCentury BCIQCOX6A2
ClinGenCOX6A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1339
Chemical/Pharm GKB GenePA26796
Clinical trialCOX6A2
Miscellaneous
canSAR (ICR)COX6A2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX6A2
EVEXCOX6A2
GoPubMedCOX6A2
iHOPCOX6A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:11:32 CEST 2017

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