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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DSC2 Gene

protein-coding   GIFtS: 66
GCID: GC18M028670

Desmocollin 2


(Previous symbol: DSC3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Desmocollin 21 2     DGII/III2
DSC31 2 3 5     desmocollin-22
Cadherin Family Member 22 3     Desmosomal Glycoprotein II/III2
CDHF22 3     Desmocollin-33
ARVD112 5     Desmosomal Glycoprotein II3
DG22     Desmosomal Glycoprotein III3

External Ids:    HGNC: 30361   Entrez Gene: 18242   Ensembl: ENSG000001347557   OMIM: 1256455   UniProtKB: Q024873   

Export aliases for DSC2 gene to outside databases

Previous GC identifers: GC18M028466 GC18M026899 GC18M026897 GC18M026900 GC18M025501


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DSC2 Gene:
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)

GeneCards Summary for DSC2 Gene: 
DSC2 (desmocollin 2) is a protein-coding gene. Diseases associated with DSC2 include arrhythmogenic right ventricular dysplasia/cardiomyopathy11, and arrhythmogenic right ventricular dysplasia, familial, 11, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: DSC2_HUMAN, Q02487
Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning
(stratification) by mediating differential adhesiveness between cells that express different isoforms

Gene Wiki entry for DSC2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSC2 gene promoter:
         Spz1   STAT1beta   Ik-3   NF-kappaB   GATA-1   Egr-4   Ik-2   FOXO4   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DSC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12.1

DSC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSC2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M028670:  view genomic region     (about GC identifiers)

Start:
28,645,940 bp from pter      End:
28,682,388 bp from pter
Size:
36,449 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DSC2_HUMAN, Q02487 (See protein sequence)
Recommended Name: Desmocollin-2 precursor  
Size: 901 amino acids; 99962 Da
Subunit: Interacts with DSP, PKP2 and JUP
Subcellular location: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome
Sequence caution: Sequence=CAA40141.1; Type=Erroneous initiation; Sequence=CAA40142.1; Type=Erroneous initiation;
Alternative splicing: 2 isoforms:  Q02487-1   Q02487-2   

Explore the universe of human proteins at neXtProt for DSC2: NX_Q02487

Explore proteomics data for DSC2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02487

  • DSC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DSC2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004940.1  NP_077740.1  

    ENSEMBL proteins: 
     ENSP00000251081   ENSP00000280904  

    Human Recombinant Protein Products for DSC2: 
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    Cloud-Clone Corp. Proteins for DSC2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0005913cell-cell adherens junction IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0030057desmosome IDA--

    DSC2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MCDH: Cadherins / Major cadherins

    5/8 InterPro protein domains (see all 8):
     IPR027397 Catenin_binding_dom
     IPR009124 Cadherin/Desmocollin
     IPR000233 Cadherin_cytoplasmic-dom
     IPR002126 Cadherin
     IPR015919 Cadherin-like

    Graphical View of Domain Structure for InterPro Entry Q02487

    ProtoNet protein and cluster: Q02487

    3 Blocks protein domains:
    IPB002126 Cadherin
    IPB009122 Desmosomal cadherin signature
    IPB009124 Desmocollin signature


    UniProtKB/Swiss-Prot: DSC2_HUMAN, Q02487
    Domain: Calcium may be bound by the cadherin-like repeats (Potential)
    Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the
    connections, imparting a strong curvature to the full-length ectodomain (By similarity)
    Similarity: Contains 5 cadherin domains


    DSC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DSC2_HUMAN, Q02487
    Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
    intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning
    (stratification) by mediating differential adhesiveness between cells that express different isoforms

         Genatlas biochemistry entry for DSC2:
    desmocollin 2 (desmoglein related,desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion
    molecule) intercellular adhesion molecule,widely expressed

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    DSC2 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidDSC2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DSC2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DSC2
        Arrhythmogenic right ventricular cardiomyopathy



    1         Kegg Pathway  (Kegg details for DSC2):
        Arrhythmogenic right ventricular cardiomyopathy (ARVC)


    DSC2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DSC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/9 Interacting proteins for DSC2 (Q024873 ENSP000002809044) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKP3Q9Y4463, ENSP000003316784I2D: score=3 STRING: ENSP00000331678
    DSG1Q024133, ENSP000002571924I2D: score=2 STRING: ENSP00000257192
    DSG2Q141263, ENSP000002615904I2D: score=2 STRING: ENSP00000261590
    JUPP149233, ENSP000003111134I2D: score=2 STRING: ENSP00000311113
    PKP2Q999593, ENSP000000708464I2D: score=2 STRING: ENSP00000070846
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS2037591
    GO:0007156homophilic cell adhesion IEA--
    GO:0086005regulation of ventricular cardiac muscle cell action potential IMP--
    GO:0086069bundle of His cell to Purkinje myocyte communication IMP--
    GO:0086091regulation of heart rate by cardiac conduction IMP--

    DSC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DSC2

    1 HMDB Compound for DSC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about DSC2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DSC2 gene (2 alternative transcripts): 
    NM_004949.3  NM_024422.3  

    Unigene Cluster for DSC2:

    Desmocollin 2
    Hs.95612  [show with all ESTs]
    Unigene Representative Sequence: NM_004949
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251081 ENST00000280904(uc002kwk.4 uc002kwl.4 uc010xbo.1)

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    hsa-miR-3607-3p hsa-miR-148b hsa-miR-29a hsa-miR-29c hsa-miR-25 hsa-miR-548c-3p hsa-miR-92b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidDSC2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK290313.1 AK297029.1 BC063291.1 BX648425.1 CR749226.1 EF017811.1 EF017812.1 X56807.1 

    8 DOTS entries:

    DT.92456285  DT.455953  DT.91657340  DT.95371753  DT.100799707  DT.102827366  DT.40121549  DT.97811184 

    24/118 AceView cDNA sequences (see all 118):

    BC063291 BX092320 AI633951 AU154691 AA576693 AI990572 BE350090 AW241533 
    AI655285 CB155976 NM_004949 AA916883 CB132853 AI888282 BM474894 AW078884 
    AI738572 CB162951 AA887898 AI816783 NM_024422 AW051612 CB148021 BU735677 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DSC2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                                                                                                  
    SP2:                                                                                                  -               


    ECgene alternative splicing isoforms for DSC2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DSC2 expression in normal human tissues (normalized intensities)      DSC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGTCATAC
    DSC2 Expression
    About this image


    DSC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Spinous Keratinocytes Stratified Epidermis
             Stratified Epidermis
             vulva/anal skin ; epidermal cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             SMALL INTESTINE   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   

    See DSC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DSC2

    SOURCE GeneReport for Unigene cluster: Hs.95612

    UniProtKB/Swiss-Prot: DSC2_HUMAN, Q02487
    Tissue specificity: Expressed in epithelia, myocardium and lymph nodes

        SABiosciences Expression via Pathway-Focused PCR Arrays including DSC2: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for DSC2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dsc21 , 5 desmocollin 21, 5 78.75(n)1
    76.68(a)1
      18 (11.14 cM)5
    135061  NM_013505.31  NP_038533.11 
     200306335 
    chicken
    (Gallus gallus)
    Aves DSC21 desmocollin 2 61.08(n)
    52.5(a)
      428527  XM_426081.2  XP_426081.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    46(a)
    45(a)
    many ↔ many
    many ↔ many
    GL343207.1(3967092-3980002)
    GL343207.1(3994336-4032722)
    zebrafish
    (Danio rerio)
    Actinopterygii dsc2l6
    desmocollin 2 like
    34(a)
    1 → many
    20(7437162-7468565)


    ENSEMBL Gene Tree for DSC2 (if available)
    TreeFam Gene Tree for DSC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DSC2 gene
    DSC12  CDH42  DSG42  CDH162  DSG12  CDH132  CDH32  DSG22  
    CDH12  CDH262  DSC32  CDH22  CDH152  CDH172  DSG32  
    18/25 SIMAP similar genes for DSC2 using alignment to 4 protein entries:     DSC2_HUMAN (see all proteins) (see all similar genes):
    DKFZp686I11137    DKFZp686P18250    DSC3    DSC1    CDH3    CDH13
    CDH26    Nbla04261    CDH1    CDH16    CDH2    CDH5
    CELSR1    DCHS2    DSG2    PCDH11Y    CDH6    PCDH15

    DSC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/799 SNPs in DSC2 are shown (see all 799)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0656894
    Familial arrhythmogenic right ventricular dysplasia 11 (ARVD11)4--see VAR_0656892 T M mis40--------
    VAR_0656874
    Familial arrhythmogenic right ventricular dysplasia 11 (ARVD11)4--see VAR_0656872 R C mis40--------
    VAR_0656904
    Familial arrhythmogenic right ventricular dysplasia 11 (ARVD11)4--see VAR_0656902 T A mis40--------
    VAR_0656884
    Familial arrhythmogenic right ventricular dysplasia 11 (ARVD11)4--see VAR_0656882 I T mis40--------
    rs617319211,2,4
    C,Fprobable-non-pathogenic128640732(+) CCCCCC/TGGCAG 4 Q R mis14Minor allele frequency- T:0.03NS NA EU 6011
    rs1442421141,2
    C,Fprobable-non-pathogenic128651987(+) GCTGAT/CCTTGG 4 /R syn12Minor allele frequency- C:0.00NA EU 5873
    rs1510240191,2
    C,Fprobable-pathogenic128642505(+) GGCTAA/CATCAT 4 V L mis12Minor allele frequency- C:0.00NA EU 5873
    rs1939227081,2
    Cprobable-pathogenic128658404(-) ACACAC/TGCCTG 4 R C mis11Minor allele frequency- T:0.00EU 1323
    rs1113478881,2
    Cunknown128666526(+) TTTTAT/ATGTTT 2 -- int11Minor allele frequency- A:0.50CSA 2
    VAR_0656924
    ----see VAR_0656922 Q H mis40--------

    HapMap Linkage Disequilibrium report for DSC2 (28645940 - 28682388 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DSC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665597CNV Deletion23128226
    nsv2244CNV Loss18451855


    Human Gene Mutation Database (HGMD): DSC2

    Locus Specific Mutation Databases (LSDB): DSC2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 125645   
    OMIM disorders: 610476  
    UniProtKB/Swiss-Prot: DSC2_HUMAN, Q02487
  • Familial arrhythmogenic right ventricular dysplasia 11 (ARVD11) [MIM:610476]: A congenital heart disease
    characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial
    cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/32 diseases for DSC2 (see all 32):    About MalaCards
    arrhythmogenic right ventricular dysplasia/cardiomyopathy11    arrhythmogenic right ventricular dysplasia, familial, 11    hidradenitis suppurativa    arrhythmogenic right ventricular dysplasia
    paraneoplastic pemphigus    hidradenitis    ectodermal dysplasia skin fragility syndrome    naxos disease
    large cell carcinoma    hailey-hailey disease    palmoplantar keratosis    arachnoiditis
    autosomal dominant disease    ectodermal dysplasia    acne    keratosis
    keratoderma    pemphigus    familial adenomatous polyposis    sinusitis

    1 disease from the University of Copenhagen DISEASES database for DSC2:
    Arrhythmogenic right ventricular dysplasia

    DSC2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for DSC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arrhythmogenic right ventricular dysplasia 86.1 8 20031616 (2), 17963498 (2), 17413274 (1), 18957847 (1)
    cardiomyopathy 53.4 3 17413274 (1), 20031616 (1)
    carcinoma squamous cell 19.1 2 17846785 (1), 19348003 (1)
    tumors 0 2 11588890 (1)

    GeneTests: DSC2
    GeneReviews: DSC2
    Genetic Association Database (GAD): DSC2
    Human Genome Epidemiology (HuGE) Navigator: DSC2 (12 documents)

    Export disorders for DSC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DSC2 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with DSC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. (PubMed id 18678517)1, 2, 4, 9 Posch M.G....Ozcelik C. (2008)
    2. Role of genetic testing in arrhythmogenic right ventr icular cardiomyopathy/dysplasia. (PubMed id 19863551)1, 2, 4 Barahona-Dussault C....Brugada R. (2010)
    3. Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4 den Haan A.D....Judge D.P. (2009)
    4. Desmoglein-2 and desmocollin-2 mutations in dutch arr hythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PubMed id 20031616)1, 4, 9 Bhuiyan Z.A....van Tintelen J.P. (2009)
    5. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (PubMed id 17033975)1, 2, 9 Syrris P.... McKenna W.J. (2006)
    6. Mechanistic insights into arrhythmogenic right ventri cular cardiomyopathy caused by desmocollin-2 mutations. (PubMed id 21062920)1, 2 Gehmlich K....McKenna W.J. (2011)
    7. Arrhythmogenic right ventricular dysplasia/cardiomyop athy diagnostic task force criteria: impact of new task force criteria. (PubMed id 20215590)1, 4 Cox M.G....Hauer R.N. (2010)
    8. Lower than expected desmosomal gene mutation prevalen ce in endurance athletes with complex ventricular arrhythmias of right ventricu lar origin. (PubMed id 20525856)1, 4 La Gerche A....HeidbA1chel H. (2010)
    9. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy . (PubMed id 20197793)1, 4 De Bortoli M....Rampazzo A. (2010)
    10. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1824 HGNC: 3036 AceView: DSC2 Ensembl:ENSG00000134755 euGenes: HUgn1824
    ECgene: DSC2 Kegg: 1824 H-InvDB: DSC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DSC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSC2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DSC2 gene:
    Search GeneIP for patents involving DSC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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