Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SCO2 (SCO2 cytochrome c oxidase assembly protein)

Identity

Alias_namesMYP6
SCO (cytochrome oxidase deficient, yeast) homolog 2
SCO cytochrome oxidase deficient homolog 2 (yeast)
myopia 6
Alias_symbol (synonym)SCO1L
Other aliasCEMCOX1
HGNC (Hugo) SCO2
LocusID (NCBI) 9997
Atlas_Id 46811
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 50961997 and ends at 50964868 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SBF1 (22q13.33) / SCO2 (22q13.33)

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)SCO2   10604
Cards
Entrez_Gene (NCBI)SCO2  9997  SCO2 cytochrome c oxidase assembly protein
AliasesCEMCOX1; MYP6; SCO1L
GeneCards (Weizmann)SCO2
Ensembl hg19 (Hinxton)ENSG00000130489 [Gene_View]  chr22:50961997-50964868 [Contig_View]  SCO2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130489 [Gene_View]  chr22:50961997-50964868 [Contig_View]  SCO2 [Vega]
ICGC DataPortalENSG00000130489
TCGA cBioPortalSCO2
AceView (NCBI)SCO2
Genatlas (Paris)SCO2
WikiGenes9997
SOURCE (Princeton)SCO2
Genetics Home Reference (NIH)SCO2
Genomic and cartography
GoldenPath hg19 (UCSC)SCO2  -     chr22:50961997-50964868 -  22q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SCO2  -     22q13.33   [Description]    (hg38-Dec_2013)
EnsemblSCO2 - 22q13.33 [CytoView hg19]  SCO2 - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBISCO2 [Mapview hg19]  SCO2 [Mapview hg38]
OMIM604272   604377   608908   
Gene and transcription
Genbank (Entrez)AL021683 BC102024 BC102025 BG392981 BM787182
RefSeq transcript (Entrez)NM_001169109 NM_001169110 NM_001169111 NM_005138
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_016235 NG_021419 NT_011526 NW_004929431
Consensus coding sequences : CCDS (NCBI)SCO2
Cluster EST : UnigeneHs.730607 [ NCBI ]
CGAP (NCI)Hs.730607
Alternative Splicing GalleryENSG00000130489
Gene ExpressionSCO2 [ NCBI-GEO ]   SCO2 [ EBI - ARRAY_EXPRESS ]   SCO2 [ SEEK ]   SCO2 [ MEM ]
Gene Expression Viewer (FireBrowse)SCO2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9997
GTEX Portal (Tissue expression)SCO2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43819   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43819  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43819
Splice isoforms : SwissVarO43819
PhosPhoSitePlusO43819
Domaine pattern : Prosite (Expaxy)THIOREDOXIN_2 (PS51352)   
Domains : Interpro (EBI)SCO1/SenC    Synth_of_cyt-c-oxidase_Sco1/2    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)SCO1-SenC (PF02630)   
Domain families : Pfam (NCBI)pfam02630   
Conserved Domain (NCBI)SCO2
DMDM Disease mutations9997
Blocks (Seattle)SCO2
PDB (SRS)2RLI   
PDB (PDBSum)2RLI   
PDB (IMB)2RLI   
PDB (RSDB)2RLI   
Structural Biology KnowledgeBase2RLI   
SCOP (Structural Classification of Proteins)2RLI   
CATH (Classification of proteins structures)2RLI   
SuperfamilyO43819
Human Protein AtlasENSG00000130489
Peptide AtlasO43819
HPRD05042
IPIIPI00014458   IPI00853417   
Protein Interaction databases
DIP (DOE-UCLA)O43819
IntAct (EBI)O43819
FunCoupENSG00000130489
BioGRIDSCO2
STRING (EMBL)SCO2
ZODIACSCO2
Ontologies - Pathways
QuickGOO43819
Ontology : AmiGOeye development  in utero embryonic development  muscle system process  copper ion binding  protein binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  copper ion transport  cellular copper ion homeostasis  respiratory chain complex IV assembly  response to activity  respiratory electron transport chain  myofibril  oxidation-reduction process  
Ontology : EGO-EBIeye development  in utero embryonic development  muscle system process  copper ion binding  protein binding  nucleoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  copper ion transport  cellular copper ion homeostasis  respiratory chain complex IV assembly  response to activity  respiratory electron transport chain  myofibril  oxidation-reduction process  
NDEx NetworkSCO2
Atlas of Cancer Signalling NetworkSCO2
Wikipedia pathwaysSCO2
Orthology - Evolution
OrthoDB9997
GeneTree (enSembl)ENSG00000130489
Phylogenetic Trees/Animal Genes : TreeFamSCO2
HOVERGENO43819
HOGENOMO43819
Homologs : HomoloGeneSCO2
Homology/Alignments : Family Browser (UCSC)SCO2
Gene fusions - Rearrangements
Fusion : MitelmanSBF1/SCO2 [22q13.33/22q13.33]  [t(22;22)(q13;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCO2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCO2
dbVarSCO2
ClinVarSCO2
1000_GenomesSCO2 
Exome Variant ServerSCO2
ExAC (Exome Aggregation Consortium)SCO2 (select the gene name)
Genetic variants : HAPMAP9997
Genomic Variants (DGV)SCO2 [DGVbeta]
DECIPHER (Syndromes)22:50961997-50964868  ENSG00000130489
CONAN: Copy Number AnalysisSCO2 
Mutations
ICGC Data PortalSCO2 
TCGA Data PortalSCO2 
Broad Tumor PortalSCO2
OASIS PortalSCO2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCO2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCO2
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 SCO2
DgiDB (Drug Gene Interaction Database)SCO2
DoCM (Curated mutations)SCO2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCO2 (select a term)
intoGenSCO2
Cancer3DSCO2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604272    604377    608908   
Orphanet3379    10947    13636   
MedgenSCO2
Genetic Testing Registry SCO2
NextProtO43819 [Medical]
TSGene9997
GENETestsSCO2
Huge Navigator SCO2 [HugePedia]
snp3D : Map Gene to Disease9997
BioCentury BCIQSCO2
ClinGenSCO2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9997
Chemical/Pharm GKB GenePA35013
Clinical trialSCO2
Miscellaneous
canSAR (ICR)SCO2 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCO2
EVEXSCO2
GoPubMedSCO2
iHOPSCO2
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 13:26:24 CET 2017

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