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DSC2 (desmocollin 2)

Identity

Other namesARVD11
CDHF2
DG2
DGII/III
DSC3
HGNC (Hugo) DSC2
LocusID (NCBI) 1824
Location 18q12.1
Location_base_pair Starts at 28645942 and ends at 28682388 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)DSC2   3036
Cards
Entrez_Gene (NCBI)DSC2  1824  desmocollin 2
GeneCards (Weizmann)DSC2
Ensembl (Hinxton)ENSG00000134755 [Gene_View]  chr18:28645942-28682388 [Contig_View]  DSC2 [Vega]
ICGC DataPortalENSG00000134755
AceView (NCBI)DSC2
Genatlas (Paris)DSC2
WikiGenes1824
SOURCE (Princeton)NM_004949 NM_024422
Genomic and cartography
GoldenPath (UCSC)DSC2  -  18q12.1   chr18:28645942-28682388 -  18q12.1   [Description]    (hg19-Feb_2009)
EnsemblDSC2 - 18q12.1 [CytoView]
Mapping of homologs : NCBIDSC2 [Mapview]
OMIM125645   610476   
Gene and transcription
Genbank (Entrez)AK290313 AK297029 BC063291 BE813598 BU735677
RefSeq transcript (Entrez)NM_004949 NM_024422
RefSeq genomic (Entrez)AC_000150 NC_000018 NC_018929 NG_008208 NT_010966 NW_001838467 NW_004929410
Consensus coding sequences : CCDS (NCBI)DSC2
Cluster EST : UnigeneHs.95612 [ NCBI ]
CGAP (NCI)Hs.95612
Alternative Splicing : Fast-db (Paris)GSHG0014241
Alternative Splicing GalleryENSG00000134755
Gene ExpressionDSC2 [ NCBI-GEO ]     DSC2 [ SEEK ]   DSC2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02487 (Uniprot)
NextProtQ02487  [Medical]
With graphics : InterProQ02487
Splice isoforms : SwissVarQ02487 (Swissvar)
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin/Desmocollin    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro_dom    Catenin_binding_dom    Desmosomal_cadherin   
Related proteins : CluSTrQ02487
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam (NCBI)pfam00028    pfam01049    pfam08758   
Domain families : Smart (EMBL)CA (SM00112)  Cadherin_pro (SM01055)  
DMDM Disease mutations1824
Blocks (Seattle)Q02487
Human Protein AtlasENSG00000134755
Peptide AtlasQ02487
HPRD00512
IPIIPI00025846   IPI00220146   IPI00941287   IPI01009989   
Protein Interaction databases
DIP (DOE-UCLA)Q02487
IntAct (EBI)Q02487
FunCoupENSG00000134755
BioGRIDDSC2
InParanoidQ02487
Interologous Interaction database Q02487
IntegromeDBDSC2
STRING (EMBL)DSC2
Ontologies - Pathways
Ontology : AmiGOcalcium ion binding  protein binding  plasma membrane  cell-cell adherens junction  cell adhesion  homophilic cell adhesion  intercalated disc  integral component of membrane  desmosome  cytoplasmic vesicle  extracellular vesicular exosome  ventricular cardiac muscle cell action potential  cardiac muscle cell-cardiac muscle cell adhesion  bundle of His cell to Purkinje myocyte communication  regulation of heart rate by cardiac conduction  
Ontology : EGO-EBIcalcium ion binding  protein binding  plasma membrane  cell-cell adherens junction  cell adhesion  homophilic cell adhesion  intercalated disc  integral component of membrane  desmosome  cytoplasmic vesicle  extracellular vesicular exosome  ventricular cardiac muscle cell action potential  cardiac muscle cell-cardiac muscle cell adhesion  bundle of His cell to Purkinje myocyte communication  regulation of heart rate by cardiac conduction  
Pathways : KEGGArrhythmogenic right ventricular cardiomyopathy (ARVC)   
Protein Interaction DatabaseDSC2
Wikipedia pathwaysDSC2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DSC2
SNP (GeneSNP Utah)DSC2
SNP : HGBaseDSC2
Genetic variants : HAPMAPDSC2
1000_GenomesDSC2 
ICGC programENSG00000134755 
CONAN: Copy Number AnalysisDSC2 
Somatic Mutations in Cancer : COSMICDSC2 
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)ARVD/C Genetic Variants Database
Mutations and Diseases : HGMDDSC2
OMIM125645    610476   
MedgenDSC2
GENETestsDSC2
Disease Genetic AssociationDSC2
Huge Navigator DSC2 [HugePedia]  DSC2 [HugeCancerGEM]
Genomic VariantsDSC2  DSC2 [DGVbeta]
Exome VariantDSC2
dbVarDSC2
ClinVarDSC2
snp3D : Map Gene to Disease1824
General knowledge
Homologs : HomoloGeneDSC2
Homology/Alignments : Family Browser (UCSC)DSC2
Phylogenetic Trees/Animal Genes : TreeFamDSC2
Chemical/Protein Interactions : CTD1824
Chemical/Pharm GKB GenePA27489
Clinical trialDSC2
Cancer Resource (Charite)ENSG00000134755
Other databases
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
CoreMineDSC2
iHOPDSC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:43:33 CEST 2014

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