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DSC2 Gene

protein-coding   GIFtS: 67
GCID: GC18M028670

Desmocollin 2


(Previous symbol: DSC3)
  See DSC2-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 11 with mild palmoplantar keratoderma and woolly hair. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for DSC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys890
  • Glycosylation2 at Asn34, Asn166, Asn392, Asn546, Asn629
  • Modification sites at PhosphoSitePlus

  • See DSC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000251081   ENSP00000280904  

    DSC2 Human Recombinant Protein Products:

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    Novus Biologicals DSC2 Proteins
    Novus Biologicals DSC2 Lysates
    Sino Biological Recombinant Protein for DSC2
    Sino Biological Cell Lysate for DSC2
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DSC2

     
    Search eBioscience for Proteins for DSC2 

    DSC2 Antibody Products:

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    Abcam antibodies for DSC2 (Q02487, Q14574)
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    DSC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DSC2
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    Search eBioscience for ELISAs for DSC2 


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

    Selected 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


    Find genes that share domains with DSC2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with DSC2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DSC2

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    miRNA
    Products:
        
    miRTarBase miRNAs that target DSC2:
    hsa-mir-24-3p (MIRT030595), hsa-mir-7-5p (MIRT025897), hsa-mir-335-5p (MIRT019103)

    Block miRNA regulation of human, mouse, rat DSC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSC2 (see all 18):
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for DSC2
    Predesigned siRNA for gene silencing in human, mouse, rat DSC2

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DSC2 (NM_024422)
    Sino Biological Human cDNA Clone for DSC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSC2
    Addgene plasmids for DSC2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DSC2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DSC2_HUMAN, Q02487: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    cytoskeleton1
    cytosol1
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

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

    Find genes that share ontologies with DSC2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DSC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.54


    Find genes that share SuperPaths with DSC2           About GenesLikeMe

    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)

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        Search GeneGlobe Interaction Network for DSC2

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

    Selected Interacting proteins for DSC2 (Q024871, 3 ENSP000002809044) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS2037591
    GO:0007156homophilic cell adhesion IEA--
    GO:0086005ventricular 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--

    Find genes that share ontologies with DSC2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DSC2

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



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

    miRNA
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    Block miRNA regulation of human, mouse, rat DSC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSC2 (see all 18):
    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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    Predesigned siRNA for gene silencing in human, mouse, rat DSC2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DSC2 (NM_024422)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSC2
    Addgene plasmids for DSC2 
    Primer
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    OriGene qPCR primer pairs and template standards for DSC2
    OriGene qSTAR qPCR primer pairs in human, mouse for DSC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSC2
      QuantiTect SYBR Green Assays in human, mouse, rat DSC2
      QuantiFast Probe-based Assays in human, mouse, rat DSC2

    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 

    Selected AceView cDNA sequences (see all 118):

    BX092320 AU154691 AW051612 AW078884 AA576693 BU735677 BE350090 AW439811 
    BC063291 AA887898 AI569470 BM474894 CB148021 AI888282 BF591337 NM_004949 
    AI633951 CR749226 CB162951 AI738572 AW241533 AI990572 AA916883 CB132853 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DSC2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 18) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer
             Corneal Epithelium
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Epidermis (Integumentary System)
             Spinous Keratinocytes Stratified Epidermis
     
     Thymus (Hematopoietic System)
             Thymus
    DSC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.95612

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

        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    OriGene qPCR primer pairs and template standards for DSC2
    OriGene qSTAR qPCR primer pairs in human, mouse for DSC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSC2
    QuantiTect SYBR Green Assays in human, mouse, rat DSC2
    QuantiFast Probe-based Assays in human, mouse, rat DSC2
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DSC2 gene from Selected 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 78.79(n)1
    76.57(a)1
      18 (11.14 cM)5
    135061  NM_013505.31  NP_038533.11 
     200306335 
    chicken
    (Gallus gallus)
    Aves DSC21 desmocollin 2 61.14(n)
    52.57(a)
      428527  XM_004939817.1  XP_004939874.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    46(a)
    46(a)
    many ↔ many
    many ↔ many
    GL343207.1(3967092-3980002)
    GL343207.1(3994336-4032722)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dsc31 desmocollin 3 54.84(n)
    45.9(a)
      100135098  NM_001128664.1  NP_001122136.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dsc2l6
    desmocollin 2 like
    35(a)
    1 → many
    20(7437162-7468565) ENSDARG00000039677


    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)
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    Paralogs for DSC2 gene
    DSC12  CDH42  DSG42  DSG12  CDH132  CDH32  DSG22  CDH12  
    CDH262  DSC32  CDH22  CDH152  DSG32  
    Selected 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    CDH26
    Nbla04261    CDH1    CDH16    CDH2    CDH13    CDH5
    CELSR1    DCHS2    DSG2    PCDH11Y    CDH6    PCDH15

    Find genes that share paralogs with DSC2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DSC2 (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
    Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)4--see VAR_0656892 T M mis40--------
    VAR_0656874
    Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)4--see VAR_0656872 R C mis40--------
    VAR_0656904
    Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)4--see VAR_0656902 T A mis40--------
    VAR_0656884
    Arrhythmogenic right ventricular dysplasia, familial, 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
    rs1848596151,2
    --28637246(+) AAGGAC/TAGAGC 2 -- ds50010--------

    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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 125645   
    OMIM disorders: 610476  
    UniProtKB/Swiss-Prot: DSC2_HUMAN, Q02487
  • Arrhythmogenic right ventricular dysplasia, familial, 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

  • 12 diseases for DSC2:    
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    arrhythmogenic right ventricular dysplasia/cardiomyopathy11    arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair    arrhythmogenic right ventricular dysplasia 11    naxos disease
    paraneoplastic pemphigus    hidradenitis    hidradenitis suppurativa    arrhythmogenic right ventricular dysplasia
    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, right dominant form    familial isolated arrhythmogenic ventricular dysplasia, left dominant form    hailey-hailey disease

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

    Find genes that share disorders with DSC2           About GenesLikeMe

    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)
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    PubMed articles for DSC2 gene, integrated from 10 sources (see all 90):
    (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. (Mol. Genet. Metab. 2008)
    2. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PubMed id 19863551)1, 2, 4 Barahona-Dussault C.... Brugada R. (Clin. Genet. 2010)
    3. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4 den Haan A.D.... Judge D.P. (Circ. Cardiovasc. Genet. 2009)
    4. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PubMed id 20031616)1, 4, 9 Bhuiyan Z.A....van Tintelen J.P. (Circ Cardiovasc Genet 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. (Am. J. Hum. Genet. 2006)
    6. Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. (PubMed id 21062920)1, 2 Gehmlich K.... McKenna W.J. (Cardiovasc. Res. 2011)
    7. Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria. (PubMed id 20215590)1, 4 Cox M.G....Hauer R.N. (Circ Arrhythm Electrophysiol 2010)
    8. Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. (PubMed id 20525856)1, 4 La Gerche A....HeidbA1chel H. (Heart 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. (Eur. J. Hum. Genet. 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. (J. Proteome Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1824 HGNC: 3036 AceView: DSC2 Ensembl:ENSG00000134755 euGenes: HUgn1824
    ECgene: DSC2 Kegg: 1824 H-InvDB: DSC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DSC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DSC2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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