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CCS (copper chaperone for superoxide dismutase)

Identity

Alias (NCBI)-
HGNC (Hugo) CCS
LocusID (NCBI) 9973
Atlas_Id 52341
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66593185 and ends at 66606019 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
RBM14 (11q13.2)::CCS (11q13.2)RBM4 (11q13.2)::CCS (11q13.2)RBM14 11q13.2::CCS 11q13.2

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)CCS   1613
Cards
Entrez_Gene (NCBI)CCS    copper chaperone for superoxide dismutase
Aliases
GeneCards (Weizmann)CCS
Ensembl hg19 (Hinxton)ENSG00000173992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173992 [Gene_View]  ENSG00000173992 [Sequence]  chr11:66593185-66606019 [Contig_View]  CCS [Vega]
ICGC DataPortalENSG00000173992
TCGA cBioPortalCCS
AceView (NCBI)CCS
Genatlas (Paris)CCS
SOURCE (Princeton)CCS
Genetics Home Reference (NIH)CCS
Genomic and cartography
GoldenPath hg38 (UCSC)CCS  -     chr11:66593185-66606019 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCS  -     11q13.2   [Description]    (hg19-Feb_2009)
GoldenPathCCS - 11q13.2 [CytoView hg19]  CCS - 11q13.2 [CytoView hg38]
ImmunoBaseENSG00000173992
Genome Data Viewer NCBICCS [Mapview hg19]  
OMIM603864   
Gene and transcription
Genbank (Entrez)AF002210 AY113179 BC105016 BC112055 CR541928
RefSeq transcript (Entrez)NM_005125
Consensus coding sequences : CCDS (NCBI)CCS
Gene ExpressionCCS [ NCBI-GEO ]   CCS [ EBI - ARRAY_EXPRESS ]   CCS [ SEEK ]   CCS [ MEM ]
Gene Expression Viewer (FireBrowse)CCS [ Firebrowse - Broad ]
GenevisibleExpression of CCS in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9973
GTEX Portal (Tissue expression)CCS
Human Protein AtlasENSG00000173992-CCS [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14618   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14618  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14618
PhosPhoSitePlusO14618
Domaine pattern : Prosite (Expaxy)HMA_2 (PS50846)    SOD_CU_ZN_2 (PS00332)   
Domains : Interpro (EBI)HMA_dom    HMA_dom_sf    SOD-like_Cu/Zn_dom_sf    SOD_Cu/Zn_/chaperone    SOD_Cu/Zn_BS    SOD_Cu_Zn_dom   
Domain families : Pfam (Sanger)HMA (PF00403)    Sod_Cu (PF00080)   
Domain families : Pfam (NCBI)pfam00403    pfam00080   
Conserved Domain (NCBI)CCS
PDB (RSDB)1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
PDB Europe1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
PDB (PDBSum)1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
PDB (IMB)1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
Structural Biology KnowledgeBase1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
SCOP (Structural Classification of Proteins)1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
CATH (Classification of proteins structures)1DO5    2CRL    2RSQ    6FN8    6FOL    6FON    6FP6   
SuperfamilyO14618
AlphaFold pdb e-kbO14618   
Human Protein Atlas [tissue]ENSG00000173992-CCS [tissue]
HPRD04841
Protein Interaction databases
DIP (DOE-UCLA)O14618
IntAct (EBI)O14618
BioGRIDCCS
STRING (EMBL)CCS
ZODIACCCS
Ontologies - Pathways
QuickGOO14618
Ontology : AmiGOsuperoxide dismutase activity  copper ion binding  copper ion binding  protein binding  nucleus  cytoplasm  cytosol  superoxide metabolic process  protein-disulfide reductase activity  protein maturation by copper ion transfer  removal of superoxide radicals  cellular response to oxidative stress  cadherin binding  positive regulation of oxidoreductase activity  
Ontology : EGO-EBIsuperoxide dismutase activity  copper ion binding  copper ion binding  protein binding  nucleus  cytoplasm  cytosol  superoxide metabolic process  protein-disulfide reductase activity  protein maturation by copper ion transfer  removal of superoxide radicals  cellular response to oxidative stress  cadherin binding  positive regulation of oxidoreductase activity  
Pathways : KEGGKEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS   
NDEx NetworkCCS
Atlas of Cancer Signalling NetworkCCS
Wikipedia pathwaysCCS
Orthology - Evolution
OrthoDB9973
GeneTree (enSembl)ENSG00000173992
Phylogenetic Trees/Animal Genes : TreeFamCCS
Homologs : HomoloGeneCCS
Homology/Alignments : Family Browser (UCSC)CCS
Gene fusions - Rearrangements
Fusion : MitelmanRBM14::CCS [11q13.2/11q13.2]  
Fusion : QuiverCCS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCS
dbVarCCS
ClinVarCCS
MonarchCCS
1000_GenomesCCS 
Exome Variant ServerCCS
GNOMAD BrowserENSG00000173992
Varsome BrowserCCS
ACMGCCS variants
VarityO14618
Genomic Variants (DGV)CCS [DGVbeta]
DECIPHERCCS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCS 
Mutations
ICGC Data PortalCCS 
TCGA Data PortalCCS 
Broad Tumor PortalCCS
OASIS PortalCCS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCS  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCCS
Mutations and Diseases : HGMDCCS
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCCS
DgiDB (Drug Gene Interaction Database)CCS
DoCM (Curated mutations)CCS
CIViC (Clinical Interpretations of Variants in Cancer)CCS
Cancer3DCCS
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603864   
Orphanet
DisGeNETCCS
MedgenCCS
Genetic Testing Registry CCS
NextProtO14618 [Medical]
GENETestsCCS
Target ValidationCCS
Huge Navigator CCS [HugePedia]
ClinGenCCS
Clinical trials, drugs, therapy
MyCancerGenomeCCS
Protein Interactions : CTDCCS
Pharm GKB GenePA26177
PharosO14618
Clinical trialCCS
Miscellaneous
canSAR (ICR)CCS
HarmonizomeCCS
ARCHS4CCS
DataMed IndexCCS
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCCS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:26:20 CET 2022

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