Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX4I2 (cytochrome c oxidase subunit 4I2)

Identity

Alias_namesCOX4L2
cytochrome c oxidase subunit IV isoform 2
cytochrome c oxidase subunit IV isoform 2 (lung)
Alias_symbol (synonym)COXIV-2
COX4B
dJ857M17.2
COX4-2
Other aliasCOX4
HGNC (Hugo) COX4I2
LocusID (NCBI) 84701
Atlas_Id 47019
Location 20q11.21  [Link to chromosome band 20q11]
Location_base_pair Starts at 30225691 and ends at 30232800 bp from pter ( according to hg19-Feb_2009)

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)COX4I2   16232
Cards
Entrez_Gene (NCBI)COX4I2  84701  cytochrome c oxidase subunit 4I2
AliasesCOX4; COX4-2; COX4B; COX4L2; 
COXIV-2; dJ857M17.2
GeneCards (Weizmann)COX4I2
Ensembl hg19 (Hinxton)ENSG00000131055 [Gene_View]  chr20:30225691-30232800 [Contig_View]  COX4I2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131055 [Gene_View]  chr20:30225691-30232800 [Contig_View]  COX4I2 [Vega]
ICGC DataPortalENSG00000131055
TCGA cBioPortalCOX4I2
AceView (NCBI)COX4I2
Genatlas (Paris)COX4I2
WikiGenes84701
SOURCE (Princeton)COX4I2
Genetics Home Reference (NIH)COX4I2
Genomic and cartography
GoldenPath hg19 (UCSC)COX4I2  -     chr20:30225691-30232800 +  20q11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COX4I2  -     20q11.21   [Description]    (hg38-Dec_2013)
EnsemblCOX4I2 - 20q11.21 [CytoView hg19]  COX4I2 - 20q11.21 [CytoView hg38]
Mapping of homologs : NCBICOX4I2 [Mapview hg19]  COX4I2 [Mapview hg38]
OMIM607976   612714   
Gene and transcription
Genbank (Entrez)AF257180 BC057779 HE647859
RefSeq transcript (Entrez)NM_032609
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_012180 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)COX4I2
Cluster EST : UnigeneHs.277101 [ NCBI ]
CGAP (NCI)Hs.277101
Alternative Splicing GalleryENSG00000131055
Gene ExpressionCOX4I2 [ NCBI-GEO ]   COX4I2 [ EBI - ARRAY_EXPRESS ]   COX4I2 [ SEEK ]   COX4I2 [ MEM ]
Gene Expression Viewer (FireBrowse)COX4I2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84701
GTEX Portal (Tissue expression)COX4I2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96KJ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96KJ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96KJ9
Splice isoforms : SwissVarQ96KJ9
PhosPhoSitePlusQ96KJ9
Domains : Interpro (EBI)Cyt_c_oxidase_su4    Cyt_c_oxidase_su4_fam   
Domain families : Pfam (Sanger)COX4 (PF02936)   
Domain families : Pfam (NCBI)pfam02936   
Conserved Domain (NCBI)COX4I2
DMDM Disease mutations84701
Blocks (Seattle)COX4I2
SuperfamilyQ96KJ9
Human Protein AtlasENSG00000131055
Peptide AtlasQ96KJ9
HPRD12143
IPIIPI00064655   
Protein Interaction databases
DIP (DOE-UCLA)Q96KJ9
IntAct (EBI)Q96KJ9
FunCoupENSG00000131055
BioGRIDCOX4I2
STRING (EMBL)COX4I2
ZODIACCOX4I2
Ontologies - Pathways
QuickGOQ96KJ9
Ontology : AmiGOcytochrome-c oxidase activity  mitochondrial respiratory chain complex IV  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  cellular respiration  oxidation-reduction process  hydrogen ion transmembrane transport  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  mitochondrial respiratory chain complex IV  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  cellular respiration  oxidation-reduction process  hydrogen ion 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   
NDEx NetworkCOX4I2
Atlas of Cancer Signalling NetworkCOX4I2
Wikipedia pathwaysCOX4I2
Orthology - Evolution
OrthoDB84701
GeneTree (enSembl)ENSG00000131055
Phylogenetic Trees/Animal Genes : TreeFamCOX4I2
HOVERGENQ96KJ9
HOGENOMQ96KJ9
Homologs : HomoloGeneCOX4I2
Homology/Alignments : Family Browser (UCSC)COX4I2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX4I2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX4I2
dbVarCOX4I2
ClinVarCOX4I2
1000_GenomesCOX4I2 
Exome Variant ServerCOX4I2
ExAC (Exome Aggregation Consortium)COX4I2 (select the gene name)
Genetic variants : HAPMAP84701
Genomic Variants (DGV)COX4I2 [DGVbeta]
DECIPHER (Syndromes)20:30225691-30232800  ENSG00000131055
CONAN: Copy Number AnalysisCOX4I2 
Mutations
ICGC Data PortalCOX4I2 
TCGA Data PortalCOX4I2 
Broad Tumor PortalCOX4I2
OASIS PortalCOX4I2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX4I2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX4I2
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 COX4I2
DgiDB (Drug Gene Interaction Database)COX4I2
DoCM (Curated mutations)COX4I2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX4I2 (select a term)
intoGenCOX4I2
Cancer3DCOX4I2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607976    612714   
Orphanet18404   
MedgenCOX4I2
Genetic Testing Registry COX4I2
NextProtQ96KJ9 [Medical]
TSGene84701
GENETestsCOX4I2
Huge Navigator COX4I2 [HugePedia]
snp3D : Map Gene to Disease84701
BioCentury BCIQCOX4I2
ClinGenCOX4I2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84701
Chemical/Pharm GKB GenePA26783
Clinical trialCOX4I2
Miscellaneous
canSAR (ICR)COX4I2 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX4I2
EVEXCOX4I2
GoPubMedCOX4I2
iHOPCOX4I2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:01:26 CET 2017

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