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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
DSC2 1824 Desmocollin 2  18DG2; DSC3; CDHF2; ARVD11; DGII/III 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
17088906   2006Cell line : -

Source : University Hospital, Birmingham and the Royal Free Hospital, London.

Sample Type : CRC tumor and Normal tissue

No. of Sample : -

Stage : -

Immunohistochemistry,Western blotting, RT-PCR and Southern blotting. Down-regulation-Loss of Dsc2 (8/19) and de novo expression of Dsc1 (11/19) and Dsc3 (6/19) was found in colorectal adenocarcinomas on a background of colitis.

18819935   2008Cell line : Colo 205, DLD 1, HT 29, SW 480, LoVo, and T 84

Source : ATCC

Sample Type : -

No. of Sample : -

Stage : -

Western Blotting, real time RT-PCR, Promoter-Reporter Studies, EMSA and ChiP Assay.Down-regulation-Result show that the DSC2 gene is a transcriptional target for Cdx1 and Cdx2.

20089989   2010Cell line : -

Source : VU University Medical Center, Amsterdam, The Netherlands.

Sample Type : CRC tumor and Normal tissue

No. of Sample : -

Stage : -

Biochemical isolation to nano-LC-MS/MS analysis.Down-regulation--

21325624   2011Cell line : S -CO 15 and Caco 2.

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Immunoblotting, Immunofluorescence microscopy, beta-Catenin/TCF transcriptional reporter assayDown-regulation-Loss of Dsc2 contributes to the growth of colorectal cancer cells and highlight a novel mechanism by which the desmosomal cadherins regulate B-catenin signaling.

22438068   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : 402

Stage : UICC stage II, III

Tissue microarrays, Demethylation test, mRNA expression analysisMethylation-Reduced expression of DSC2, E-cadherin and CDX2 with shorter survival in high-grade carcinomas.


Gene Details



Chromosome: 18; NC_000018.9 (28645942..28682388, complement)

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Gene Type protein coding
Gene Family Cadherins / Major cadherins
Description The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]  
Chromosome 18
Location 18q12.1
Start 31065974  
End 31102432  
Strand -  
Gene Sequence

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Length 36459  
OMIM ID 125645   
HGNC ID HGNC:3036   
Unigene ID Hs.95612    
Ensembl ID ENSG00000134755   
PharmGKB ID PA27489   

mRNA Information


mRNA ID NM_024422.4
Exon join(1..530,8790..8874,10133..10332,11286..11405, 12839..12994,14620..14764,15691..15857,19373..19507, 20010..20195,22081..22337,22444..22586,27526..27750, 30592..30828,31583..31707,33282..33539,34221..36459)  
mRNA Sequence

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Length 5211  



CDS Information


   
Location join(462..530,8790..8874,10133..10332,11286..11405, 12839..12994,14620..14764,15691..15857,19373..19507, 20010..20195,22081..22337,22444..22586,27526..27750, 30592..30828,31583..31707,33282..33539,34221..34418)
CDS Sequence

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CCDS ID CCDS11892.1



Protein Information


      
Protein IDNP_004940.1
Protein NameDesmocollin 2
Molecular Wt. (Da)90512
Protein Sequence

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Length 847  
Uniprot IDP25311
Ensembl Protein ID ENSP00000292401  



Post-translational Modification Information (Source : HPRD)


Residue Type site
YPhosphorylation823;-
YPhosphorylation823;-
YPhosphorylation822
YPhosphorylation822

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

No matching records from HPRD source could be found.

Pathway Information


      
Pathway Name Pathway ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd11304247-351  Cadherin_repeat
cl15786247-351  CA_like superfamily
cd11304359-467  Cadherin_repeat
cl15786359-467  CA_like superfamily
cd11304477-573  Cadherin_repeat
cl15786477-573  CA_like superfamily
cd11304162-239  Cadherin_repeat
cl15786162-239  CA_like superfamily
smart0105531-111  Cadherin_pro
cl0739131-111  Cadherin_pro superfamily
pfam01049785-901  Cadherin_C
cl03079785-901  Cadherin_C superfamily
pfam00028248-345  Cadherin
smart00112267-353  CA
pfam00028360-463  Cadherin
pfam0875833-113  Cadherin_pro
pfam00028476-568  Cadherin
smart00112494-575  CA
pfam00028140-234  Cadherin
smart00112161-241  CA
smart00112377-474  CA
cd00031140-239  CA_like


Ontology Information


   
HPRD ID1910
Molecular ClassAdhesion molecule
Molecular FunctionCell adhesion molecule activity (GO:0005194)
Biological ProcessImmune response (GO:0006955)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO