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DSC2 (desmocollin 2)

Identity

Other namesARVD11
CDHF2
DG2
DGII/III
DKFZp686I11137
DSC3
HGNC (Hugo) DSC2
Location 18q12.1
Location_base_pair Starts at 26899940 and ends at 26936386 bp from pter ( according to hg18-March_2006)
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
Entrez_Gene (NCBI)DSC2  1824  desmocollin 2
Cards
GeneCards (Weizmann)DSC2
Ensembl (Hinxton)ENSG00000134755 [Gene_View]  DSC2 [Vega]
AceView (NCBI)DSC2
Genatlas (Paris)DSC2
euGene (Indiana)1824
SOURCE (Stanford)NM_004949 NM_024422
Gene Expression (Array Express) ENSG00000134755
Genomic and cartography
GoldenPath (UCSC)DSC2  -  18q12.1   chr18:26899940-26936386 -  18q12.1   [Description]    (hg18-March_2006)
EnsemblDSC2 - 18q12.1 [CytoView]
Mapping of homologs : NCBIDSC2 [Mapview]
OMIM125645   610476   
Gene and transcription
Gene : Genbank (Entrez)AK290313 AK297029 BC063291 BE813598 BU735677
Reference sequence (RefSeq transcript) :SRSNM_004949 NM_024422
Reference transcript : EntrezNM_004949 NM_024422
RefSeq genomic : SRSAC_000061 AC_000150 NC_000018 NG_008208 NT_010966 NW_001838467 NW_927095
RefSeq genomic : EntrezAC_000061 AC_000150 NC_000018 NG_008208 NT_010966 NW_001838467 NW_927095
Consensus coding sequences : CCDS NCBIDSC2
Cluster EST : UnigeneHs.95612 [ SRS ] Hs.95612 [ NCBI ]
Alternative Splicing : Fast-db (Paris)2956
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ02487 (SRS) Q02487 (Expasy) Q02487 (Uniprot)
With graphics : InterProQ02487
Splice isoforms : VarSplice FASTAQ02487(VarSplice FASTA)
Domaine pattern : Prosite (SRS)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domain pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (SRS)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro    Desmo_cadherin    Desmocollin   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro    Desmo_cadherin    Desmocollin   
Related proteins : CluSTrQ02487
Domain families : Pfam SRSCadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam SangerCadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam NCBIpfam00028    pfam01049    pfam08758   
Domain families : Smart EMBLCA (SM00112)  
Blocks (Seattle)Q02487
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD00512
Protein Interaction databases
DIP (DOE-UCLA)Q02487
IntAct (EBI)Q02487
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIDSC2
SNP : GeneSNP UtahDSC2
SNP : HGBaseDSC2
Genetic variants : HAPMAPDSC2
Somatic Mutations in Cancer : COSMICDSC2 
Mutations and Diseases : HGMDDSC2
Hereditary diseases : OMIM125645    610476   
Hereditary diseases : GENETests125645    610476   
Diseases : Genetic AssociationDSC2
General knowledge
Homologs : HomoloGeneDSC2
Homology/Alignments : Family Browser UCSCDSC2
Phylogenetic Trees/Animal Genes : TreeFamDSC2
Chemical/Protein Interactions : CTD1824
Keywords Ontology : AmiGOcalcium ion binding  protein binding  plasma membrane  cell adhesion  homophilic cell adhesion  integral to membrane  cell junction  desmosome  
Keywords Ontology : EGO-EBIcalcium ion binding  protein binding  plasma membrane  cell adhesion  homophilic cell adhesion  integral to membrane  cell junction  desmosome  
Pathways : BIOCARTA
Pathways : KEGGCell Communication
Other databases
Probes
Probes : ImagenesDSC2 Related clones (RZPD - Berlin)
Literature
PubMed35 Pubmed reference(s) in Entrez
PubGeneDSC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:33:36 CET 2010

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