Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



DSG2 Gene

protein-coding   GIFtS: 70
GCID: GC18P029101

Desmoglein 2

  See DSG2-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

TryGeneCards Plus

Aliases
Desmoglein 21 2     ARVC102 5
Cadherin Family Member 52 3     ARVD102 5
CDHF52 3     CMD1BB2 5
HDGC2 3     desmoglein-22

External Ids:    HGNC: 30491   Entrez Gene: 18292   Ensembl: ENSG000000466047   OMIM: 1256715   UniProtKB: Q141263   

Export aliases for DSG2 gene to outside databases

Previous GC identifers: GC18P028897 GC18P027330 GC18P027332 GC18P025934


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

TryGeneCards Plus

Entrez Gene summary for DSG2 Gene:
Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product
is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells.
Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell
adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18.
This second family member is expressed in colon, colon carcinoma, and other simple and stratified
epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular
dysplasia, familial, 10. (provided by RefSeq, Jul 2008)

GeneCards Summary for DSG2 Gene:
DSG2 (desmoglein 2) is a protein-coding gene. Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia/cardiomyopathy10, and arrhythmogenic right ventricular dysplasia 10. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: DSG2_HUMAN, Q14126
Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
intermediate filaments mediating cell-cell adhesion

Gene Wiki entry for DSG2 (Desmoglein 2) 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSG2 gene promoter:
         STAT5B   Bach1   ISGF-3   ATF-2   Nkx2-2   STAT5A   E47   Hand1   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSG2 promoter sequence
   Search Chromatin IP Primers for DSG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSG2


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

DSG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSG2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P029101:  view genomic region     (about GC identifiers)

Start:
29,078,006 bp from pter      End:
29,128,971 bp from pter
Size:
50,966 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: DSG2_HUMAN, Q14126 (See protein sequence)
Recommended Name: Desmoglein-2 precursor  
Size: 1118 amino acids; 122294 Da
1 PDB 3D structure from and Proteopedia for DSG2:
2YQG (3D)    
Secondary accessions: Q4KKU6

Explore the universe of human proteins at neXtProt for DSG2: NX_Q14126

Explore proteomics data for DSG2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys706, Lys746, Lys832
  • Glycosylation2 at Asn112, Asn182, Asn309, Asn462, Asn514
  • Modification sites at PhosphoSitePlus

  • See DSG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001934.2  
    ENSEMBL proteins: 
     ENSP00000261590   ENSP00000462503  
    Reactome Protein details: Q14126

    DSG2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for DSG2 (Desmoglein-2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for DSG2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DSG2
    GenScript Custom Purified and Recombinant Proteins Services for DSG2
    Novus Biologicals DSG2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DSG2

     
    Search eBioscience for Proteins for DSG2 

     
    antibodies-online proteins for DSG2 

     
    antibodies-online peptides for DSG2

    DSG2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DSG2
    R&D Systems Antibodies for DSG2 (Desmoglein-2)
    Cell Signaling Technology (CST) Antibodies for DSG2  (desmoglein 2)
    OriGene Antibodies for DSG2
    OriGene Custom Antibody Services for DSG2
    Novus Biologicals DSG2 Antibodies
    Abcam antibodies for DSG2
    Cloud-Clone Corp. Antibodies for DSG2
    ThermoFisher Antibodies for DSG2
    antibodies-online antibodies for DSG2 (103 products) 

    DSG2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DSG2
    R&D Systems Proteome Profiler Antibody Arrays for DSG2 (Desmoglein-2)
    GenScript Custom Assay Services for DSG2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DSG2
    Cloud-Clone Corp. CLIAs for DSG2
    Search eBioscience for ELISAs for DSG2 
    antibodies-online kits for DSG2 (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    MCDH: Cadherins / Major cadherins

    Selected InterPro protein domains (see all 7):
     IPR027397 Catenin_binding_dom
     IPR009123 Desmoglein
     IPR000233 Cadherin_cytoplasmic-dom
     IPR002126 Cadherin
     IPR015919 Cadherin-like

    Graphical View of Domain Structure for InterPro Entry Q14126

    ProtoNet protein and cluster: Q14126

    3 Blocks protein domains:
    IPB002126 Cadherin
    IPB009122 Desmosomal cadherin signature
    IPB009123 Desmoglein signature


    UniProtKB/Swiss-Prot: DSG2_HUMAN, Q14126
    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 4 cadherin domains


    Find genes that share domains with DSG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DSG2_HUMAN, Q14126
    Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
    intermediate filaments mediating cell-cell adhesion

         Genatlas biochemistry entry for DSG2:
    desmoglein 2 (desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion molecule),weakly
    expressed in simple and stratified epithelium

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with DSG2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DSG2:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dsg2):
     cellular  mortality/aging 

    Find genes that share phenotypes with DSG2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dsg2tm1Leu for DSG2

       genOway: Develop your customized and physiologically relevant rodent model for DSG2

    miRNA
    Products:
        
    miRTarBase miRNAs that target DSG2:
    hsa-let-7b-5p (MIRT032265), hsa-mir-15b-5p (MIRT046436), hsa-mir-1 (MIRT023688), hsa-mir-155-5p (MIRT001550), hsa-mir-30a-5p (MIRT028541), hsa-mir-124-3p (MIRT022526)

    Block miRNA regulation of human, mouse, rat DSG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSG2 (see all 16):
    hsa-miR-1271 hsa-miR-499-5p hsa-miR-124 hsa-miR-208b hsa-miR-208a hsa-miR-7-1* hsa-miR-506 hsa-miR-96
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DSG2
    Predesigned siRNA for gene silencing in human, mouse, rat DSG2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DSG2

    Clone
    Products:
         
    OriGene clones in human, mouse for DSG2 (see all 7)
    OriGene ORF clones in mouse, rat for DSG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DSG2 (NM_001943)
    Sino Biological Human cDNA Clone for DSG2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG2
    Addgene plasmids for DSG2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DSG2
    Browse ESI BIO Cell Lines and PureStem Progenitors for DSG2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    DSG2_HUMAN, Q14126: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction TAS8143788
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IEA--

    Find genes that share ontologies with DSG2           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for DSG2 About    
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Apoptotic cleavage of cell adhesion proteins0.00
    Apoptotic execution phase0.74
    3CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    4Cytoskeletal Signaling
    Cytoskeletal Signaling


    Find genes that share SuperPaths with DSG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DSG2
        Cytoskeletal Signaling

    1 BioSystems Pathway for DSG2
        Arrhythmogenic right ventricular cardiomyopathy


    1 Reactome Pathway for DSG2
        Apoptotic cleavage of cell adhesion proteins


    1 Kegg Pathway  (Kegg details for DSG2):
        Arrhythmogenic right ventricular cardiomyopathy (ARVC)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSG2: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DSG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for DSG2 (Q141263 ENSP000002615904) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKP3Q9Y4463, ENSP000003316784I2D: score=3 STRING: ENSP00000331678
    DSC2Q024873, ENSP000002809044I2D: score=2 STRING: ENSP00000280904
    JUPP149233, ENSP000003111134I2D: score=2 STRING: ENSP00000311113
    PKP2Q999593, ENSP000000708464I2D: score=2 STRING: ENSP00000070846
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007155cell adhesion IDA17559062
    GO:0007156homophilic cell adhesion IEA--
    GO:0032570response to progesterone IEA--

    Find genes that share ontologies with DSG2           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DSG2

    1 HMDB Compound for DSG2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for DSG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pki-166 80.7 1 15205458 (1)
    tyrosine 11.3 12 15205458 (1), 18987342 (1), 19262118 (1), 11335725 (1)



    Find genes that share compounds with DSG2           About GenesLikeMe



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for DSG2 gene: 
    NM_001943.3  

    Unigene Cluster for DSG2:

    Desmoglein 2
    Hs.412597  [show with all ESTs]
    Unigene Representative Sequence: NM_001943
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261590(uc002kwu.4) ENST00000585206
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DSG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSG2 (see all 16):
    hsa-miR-1271 hsa-miR-499-5p hsa-miR-124 hsa-miR-208b hsa-miR-208a hsa-miR-7-1* hsa-miR-506 hsa-miR-96
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DSG2
    Predesigned siRNA for gene silencing in human, mouse, rat DSG2
    Clone
    Products:
         
    OriGene clones in human, mouse for DSG2 (see all 7)
    OriGene ORF clones in mouse, rat for DSG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DSG2 (NM_001943)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG2
    Addgene plasmids for DSG2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DSG2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSG2
      QuantiTect SYBR Green Assays in human, mouse, rat DSG2
      QuantiFast Probe-based Assays in human, mouse, rat DSG2

    Additional mRNA sequence: 

    AK308408.1 BC014581.1 BC014584.1 BC017410.1 BC020685.1 BC022413.1 BC065747.1 BC067229.1 
    BC071764.1 BC099655.3 BC099656.3 BC099657.3 Z26317.1 

    12 DOTS entries:

    DT.95339888  DT.102833042  DT.100821217  DT.113761  DT.121090185  DT.75130924  DT.97845445  DT.121090172 
    DT.40272127  DT.91762542  DT.91855816  DT.91946305 

    Selected AceView cDNA sequences (see all 251):

    BE501734 CA414555 AU124354 BP350926 CB142589 BU754332 BX475901 AA369205 
    BX950988 AA576391 BU674863 BQ023247 BM828804 BQ887548 AA345675 BU754330 
    CB132674 BP365271 AA506621 BP353204 BQ928633 H89551 BF747569 AI458424 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

    DSG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAGGATTT
    DSG2 Expression
    About this image


    DSG2 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
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Inner Cell Mass Cells Inner Cell Mass
             hIPS1
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    DSG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.412597

    UniProtKB/Swiss-Prot: DSG2_HUMAN, Q14126
    Tissue specificity: All of the tissues tested and carcinomas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSG2: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DSG2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSG2
    QuantiTect SYBR Green Assays in human, mouse, rat DSG2
    QuantiFast Probe-based Assays in human, mouse, rat DSG2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for DSG2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dsg21 , 5 desmoglein 21, 5 78.03(n)1
    76.95(a)1
      18 (11.42 cM)5
    135111  NM_007883.21  NP_031909.21 
     205580745 
    chicken
    (Gallus gallus)
    Aves DSG21 desmoglein 2 58.63(n)
    51.28(a)
      428529  XM_426083.4  XP_426083.4 
    lizard
    (Anolis carolinensis)
    Reptilia DSG26
    desmoglein 2
    46(a)
    1 ↔ 1
    GL343207.1(3805417-3839913)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dsg21 desmoglein 2 56.28(n)
    45.74(a)
      100495580  XM_002934131.2  XP_002934177.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dsg21 desmoglein 2 48.44(n)
    40.99(a)
      560026  NM_001256637.1  NP_001243566.1 


    ENSEMBL Gene Tree for DSG2 (if available)
    TreeFam Gene Tree for DSG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for DSG2 gene
    DSC12  CDH42  DSG42  DSG12  CDH132  CDH32  CDH12  CDH262  
    DSC32  CDH22  DSC22  CDH152  DSG32  
    7 SIMAP similar genes for DSG2 using alignment to 3 protein entries:     DSG2_HUMAN (see all proteins):
    DSG3    DKFZp686P23184    DSG4    CDH1    DSC2    CDH19
    DSG1

    Find genes that share paralogs with DSG2           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for DSG2 (see all 1105)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1915649161,2,,4
    CArrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)4 --29097084(+) TTGTGA/GCCCTT 2 T A mis11Minor allele frequency- G:0.00EU 1321
    VAR_0293674
    Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)4--see VAR_0293672 C Y mis40--------
    VAR_0293684
    Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)4--see VAR_0293682 G C mis40--------
    VAR_0293664
    Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)4--see VAR_0293662 R H mis40--------
    VAR_0293654
    Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)4--see VAR_0293652 R Q mis40--------
    rs1219130121,2
    Cpathogenic129097072(+) CTAACA/GAAGGA 2 K E mis10--------
    rs1939226391,2
    C,Fpathogenic129103353(+) GCAGCG/ATCATC 2 /I /V mis11Minor allele frequency- A:0.00EU 1323
    rs1219130131,2,,4
    Cprobable-non-pathogenic129092094(+) CCCCCG/ATGGCT 2 /M /V mis11Minor allele frequency- A:0.00EU 1305
    rs22302351,2,,4
    C,F,Hprobable-non-pathogenic129108529(+) TGAATG/ATTACT 2 /I /V mis1 ese317Minor allele frequency- A:0.03MN NS EA NA CSA WA 1772
    rs340656721,2,,4
    C,Fprobable-non-pathogenic129118305(+) AGTAAC/TTCAGG 2 T I mis13Minor allele frequency- T:0.03NA 78

    HapMap Linkage Disequilibrium report for DSG2 (29078006 - 29128971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DSG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670863CNV Deletion23128226
    nsv833615CNV Gain17160897

    Human Gene Mutation Database (HGMD): DSG2
    Locus Specific Mutation Databases (LSDB): DSG2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DSG2
    DNA2.0 Custom Variant and Variant Library Synthesis for DSG2

    (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.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 125671   
    OMIM disorders: 610193  612877  
    UniProtKB/Swiss-Prot: DSG2_HUMAN, Q14126
  • Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]: 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
  • Cardiomyopathy, dilated 1BB (CMD1BB) [MIM:612877]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=Disease susceptibility is associated with variations affecting the gene represented in this
    entry

  • 16 diseases for DSG2:    
    About MalaCards
    arrhythmogenic right ventricular dysplasia/cardiomyopathy10    arrhythmogenic right ventricular dysplasia 10    dsg2-related dilated cardiomyopathy    cardiomyopathy, dilated, 1bb
    med12-related disorders    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, left dominant form    familial isolated arrhythmogenic ventricular dysplasia, right dominant form
    pemphigus foliaceus    arrhythmogenic right ventricular dysplasia    paraneoplastic pemphigus    hidradenitis suppurativa
    pemphigus    fascioliasis    hidradenitis    cardiomyopathy, dilated, 1w

    1 disease from the University of Copenhagen DISEASES database for DSG2:
    Arrhythmogenic right ventricular dysplasia

    Find genes that share disorders with DSG2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DSG2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arrhythmogenic right ventricular dysplasia 86.2 8 20031616 (2), 17105751 (2), 18813334 (1), 19635863 (1)
    pemphigus foliaceus 71.9 2 9511724 (1), 7533999 (1)
    pemphigus vulgaris 66.7 2 9511724 (1), 7533999 (1)
    pemphigus 66.1 2 10215765 (1), 12850306 (1)
    cardiomyopathy 52.4 3 20031616 (1), 18813334 (1)
    carcinoma squamous cell 28.1 4 18752129 (1), 19458482 (1), 9511724 (1), 7533999 (1)
    gastric carcinoma 16.1 3 16025435 (2), 16890424 (1)
    metastasis 12.1 2 14744087 (1), 17495963 (1)
    inflammatory bowel diseases 2.93 2 12850306 (1), 14555912 (1)
    gastric cancer 0 8 16890424 (4), 16025435 (3)

    GeneTests: DSG2
    GeneReviews: DSG2
    Genetic Association Database (GAD): DSG2
    Human Genome Epidemiology (HuGE) Navigator: DSG2 (14 documents)

    Export disorders for DSG2 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

    TryGeneCards Plus

    PubMed articles for DSG2 gene, integrated from 10 sources (see all 144):
    (articles sorted by number of sources associating them with DSG2)
        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. Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins. (PubMed id 8143788)1, 2, 9 Schaefer S.... Franke W.W. (Exp. Cell Res. 1994)
    6. The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. (PubMed id 1612610)1, 3, 9 Arnemann J....Buxton R.S. (Genomics 1992)
    7. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 16773573)1, 2, 9 Awad M.M....Judge D.P. (Am. J. Hum. Genet. 2006)
    8. 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)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (PubMed id 20400443)1, 4 Fressart V....Charron P. (Europace 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 1829 HGNC: 3049 AceView: DSG2 Ensembl:ENSG00000046604 euGenes: HUgn1829
    ECgene: DSG2 Kegg: 1829 H-InvDB: DSG2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for DSG2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DSG2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DSG2[genesymbol]

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

    TryGeneCards Plus
    Patent Information for DSG2 gene:
    Search GeneIP for patents involving DSG2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of DSG2
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for DSG2 (Desmoglein-2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for DSG2 (Desmoglein-2)   Browse Stem Cell Products  
     Browse cDNA Clones   Proteome Profiler Antibody Arrays for DSG2 (Desmoglein-2)  
     OriGene Antibodies for DSG2   OriGene RNAi products in human, mouse, rat for DSG2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for DSG2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for DSG2  
     OriGene qSTAR qPCR primer pairs in human, mouse for DSG2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for DSG2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DSG2   OriGene Custom Protein Services for DSG2  

     
     
     Block miRNA regulation of human, mouse, rat DSG2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DSG2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSG2 Predesigned siRNA for gene silencing in human, mouse, rat DSG2
     QuantiFast Probe-based Assays in human, mouse, rat DSG2 QuantiTect SYBR Green Assays in human, mouse, rat DSG2
     PCR Arrays including human, mouse, rat DSG2 Search Chromatin IP Primers for DSG2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSG2  GeneGlobe Interaction Network for DSG2
     Regulatory tfbs in DSG2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for DSG2 GenScript cDNA clones with any tag delivered in your preferred vector for DSG2
     GenScript Custom Assay Services for DSG2 GenScript Custom overexpressing Cell Line Services for DSG2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for DSG2 
    (desmoglein 2)

     Search Tocris compounds for DSG2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for DSG2
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     DSG2 antibodies
     DSG2 lysates
     Antibodies for DSG2
     See all of Abcam's Antibodies, Kits and Proteins for DSG2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for DSG2
     Antibodies for DSG2
     ELISAs for DSG2
     CLIAs for DSG2



     Browse ESI BIO Cell Lines and PureStem Progenitors for DSG2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for DSG2
     SwitchGear Promoter luciferase reporter plasmids for DSG2
     ThermoFisher Antibodies for DSG2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG2
     Browse compounds at ApexBio
     Addgene plasmids for DSG2
      Search eBioscience for proteins for DSG2
      Search eBioscience for elisas for DSG2
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for DSG2
     antibodies-online antibodies for DSG2 (103 products)
     antibodies-online kits for DSG2 (5 products)
     antibodies-online peptides for DSG2
     antibodies-online proteins for DSG2
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DSG2 gene at Home site.
    Version: 3.12.258 10 Dec 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4