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

DSC3 Gene

protein-coding   GIFtS: 57
GCID: GC18M028593

Desmocollin 3


(Previous symbol: DSC4)
  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 31 2     DSC12
DSC41 2 3 5     DSC22
Cadherin Family Member 32 3     desmocollin-32
CDHF32 3     desmocollin-42
HT-CP2 3     Desmocollin-43
DSC2     

External Ids:    HGNC: 30371   Entrez Gene: 18252   Ensembl: ENSG000001347627   OMIM: 6002715   UniProtKB: Q145743   

Export aliases for DSC3 gene to outside databases

Previous GC identifers: GC18M028389 GC18M026823 GC18M026825 GC18M025425


(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 DSC3 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. Alternative splicing results in two transcript variants
encoding distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for DSC3 Gene: 
DSC3 (desmocollin 3) is a protein-coding gene. Diseases associated with DSC3 include subcorneal pustular dermatosis, and hypotrichosis and recurrent skin vesicles. GO annotations related to this gene include gamma-catenin binding and calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: DSC3_HUMAN, Q14574
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 DSC3 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  NC_018929.2  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSC3 gene promoter:
         MEF-2A   C/EBPbeta   Sox9   STAT3   aMEF-2   Nkx2-5   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for DSC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSC3


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

DSC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSC3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M028593:  view genomic region     (about GC identifiers)

Start:
28,569,974 bp from pter      End:
28,622,781 bp from pter
Size:
52,808 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: DSC3_HUMAN, Q14574 (See protein sequence)
Recommended Name: Desmocollin-3 precursor  
Size: 896 amino acids; 99969 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome
Secondary accessions: A6NN35 Q14200 Q9HAZ9
Alternative splicing: 2 isoforms:  Q14574-1   Q14574-2   

Explore the universe of human proteins at neXtProt for DSC3: NX_Q14574

Explore proteomics data for DSC3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14574

  • DSC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DSC3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001932.2  NP_077741.2  

    ENSEMBL proteins: 
     ENSP00000353608   ENSP00000464283   ENSP00000392068  

    Human Recombinant Protein Products for DSC3: 
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    OriGene Custom MassSpec 
    OriGene Custom Protein Services for DSC3
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    Novus Biologicals DSC3 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DSC3 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction TAS7929347
    GO:0016020membrane TAS7929347

    DSC3 for ontologies           About GeneDecksing



    DSC3 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for DSC3 

    Assay Products for DSC3: 
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    Cloud-Clone Corp. ELISAs for DSC3 
    Cloud-Clone Corp. CLIAs for DSC3


    (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 Q14574

    ProtoNet protein and cluster: Q14574

    4 Blocks protein domains:
    IPB000233 Cadherin cytoplasmic region
    IPB002126 Cadherin
    IPB009122 Desmosomal cadherin signature
    IPB009124 Desmocollin signature


    UniProtKB/Swiss-Prot: DSC3_HUMAN, Q14574
    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


    DSC3 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: DSC3_HUMAN, Q14574
    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 DSC3:
    desmocollin 3 (desmoglein related DGII/DGIII,desmosomal glycoprotein, cadherin superfamily of calcium dependent
    cell-adhesion molecule),expressed in basal/lower spinous layers of epidermis

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0045295gamma-catenin binding IPI7983064
         
    DSC3 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for DSC3:
     Decreased influenza A virus in  Increased G1 DNA content  Increased cell size  Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dsc3):
     integument  mortality/aging  normal 

    DSC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dsc3tm1Pko for DSC3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DSC3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DSC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DSC3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DSC3 

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate DSC3 (see all 28):
    hsa-miR-548j hsa-miR-217 hsa-miR-3607-3p hsa-miR-4307 hsa-miR-548i hsa-miR-138-2* hsa-miR-340 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidDSC3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC3


    (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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DSC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/10 Interacting proteins for DSC3 (Q145743 ENSP000003536084) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKP3Q9Y4463, ENSP000003316784I2D: score=4 STRING: ENSP00000331678
    JUPP149233, ENSP000003111134I2D: score=2 STRING: ENSP00000311113
    PKP4Q995693, ENSP000003744094I2D: score=2 STRING: ENSP00000374409
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    CTNNB1P352223, ENSP000003444564I2D: score=2 STRING: ENSP00000344456
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0007155cell adhesion TAS7929347
    GO:0007156homophilic cell adhesion IEA--
    GO:0050821protein stabilization IDA7983064

    DSC3 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

    DSC3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for DSC3

    1 HMDB Compound for DSC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for DSC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytosine 27.8 4 16168112 (2), 12789271 (1)

    Search CenterWatch for drugs/clinical trials and news about DSC3

    (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 DSC3 gene (2 alternative transcripts): 
    NM_001941.3  NM_024423.2  

    Unigene Cluster for DSC3:

    Desmocollin 3
    Hs.41690  [show with all ESTs]
    Unigene Representative Sequence: NM_024423
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360428 ENST00000584980 ENST00000434452(uc002kwi.4 uc002kwj.4)

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate DSC3 (see all 28):
    hsa-miR-548j hsa-miR-217 hsa-miR-3607-3p hsa-miR-4307 hsa-miR-548i hsa-miR-138-2* hsa-miR-340 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidDSC3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 2): DSC3 (NM_001941)
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    Sirion Biotech Customized lentivirus for stable overexpression of DSC3 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSC3

    Additional mRNA sequence: 

    AF297090.1 AK001100.1 AK074475.1 AK291748.1 D17427.1 X83929.1 

    5 DOTS entries:

    DT.103956  DT.100751237  DT.100751235  DT.100658804  DT.95072013 

    24/131 AceView cDNA sequences (see all 131):

    BX284005 CR600534 CA433719 BG697535 AA495774 AW662293 AA227997 AA495830 
    BG205356 BP871868 AI274999 BG206428 BG197589 BG209033 BG205355 CF528593 
    BG184128 BG199666 BG208004 BG218420 AL542461 BG188862 AK074475 AA227823 

    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™, 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

    DSC3 expression in normal human tissues (normalized intensities)      DSC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DSC3 Expression
    About this image


    DSC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Intermediate Keratinocytes Embryonic Epidermis
             vulva/anal skin ; epidermal cells   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             vagina ; squamous epithelial cells   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             oral mucosa ; squamous epithelial cells   
             TONGUE   
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             placenta ; decidual cells   

    See DSC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DSC3

    SOURCE GeneReport for Unigene cluster: Hs.41690

    UniProtKB/Swiss-Prot: DSC3_HUMAN, Q14574
    Tissue specificity: Epidermis, buccal mucosa, esophagus and cervix

        SABiosciences Expression via Pathway-Focused PCR Arrays including DSC3: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC3

    (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 DSC3 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 Dsc31 , 5 desmocollin 31, 5 81.8(n)1
    80.52(a)1
      18 (11.11 cM)5
    135071  NM_007882.31  NP_031908.31 
     199609305 
    chicken
    (Gallus gallus)
    Aves DSC26
    Uncharacterized protein
    47(a)
    1 → many
    2(105634159-105655438)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    45(a)
    43(a)
    many ↔ many
    many ↔ many
    GL343207.1(3967092-3980002)
    GL343207.1(3994336-4032722)
    zebrafish
    (Danio rerio)
    Actinopterygii dsc2l6
    desmocollin 2 like
    33(a)
    1 → many
    20(7437162-7468565)


    ENSEMBL Gene Tree for DSC3 (if available)
    TreeFam Gene Tree for DSC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DSC3 gene
    DSC12  CDH42  DSG42  CDH162  DSG12  CDH132  CDH32  DSG22  
    CDH12  CDH262  CDH22  DSC22  CDH152  DSG32  CDH172  
    8 SIMAP similar genes for DSC3 using alignment to 3 protein entries:     DSC3_HUMAN (see all proteins):
    DKFZp686P18250    DSC2    DKFZp686I11137    DSC1    CDH13    CDH2
    CDH3    CDH15

    DSC3 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

    10/1406 SNPs in DSC3 are shown (see all 1406)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1477548501,2
    Cuntested128568514(+) TCACCA/GAGACG 4 L syn10--------
    rs675130201,2
    C--25476824(+) TATTT-/TA/TAA
            
    AAAAA
    4 -- int1 cds12NA 4
    rs1510204911,2
    --28561432(+) AGCCCA/GTAAAC 2 -- ds50010--------
    rs1119563751,2
    C,F--28561587(+) CCATGG/AGACAC 2 -- ds50012Minor allele frequency- A:0.12NA EA 240
    rs12607181,2
    C,A,H--28561627(+) TGCACA/GTGTAT 2 -- ds500111Minor allele frequency- G:0.30MN NA WA CSA EA 554
    rs754994061,2
    C--28561640(+) TGGAAA/CTTAAA 2 -- ds50010--------
    rs779180511,2
    C--28561641(+) GGAACA/TTAAAA 2 -- ds50010--------
    rs1440757221,2
    C--28561641(+) GAACT-/TAAAA 
            
    TAAAA
    2 -- ds50010--------
    rs12607191,2
    C,F,O,A,H--28561776(+) GAGATT/GAGATA 2 -- ds500131Minor allele frequency- G:0.42MN EA NA NS WA CSA 3151
    rs1396133051,2
    C--28561782(+) AGATAC/TTGTTC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DSC3 (28569974 - 28622781 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DSC3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv470414CNV Loss18288195
    nsv909515CNV Loss21882294
    nsv833613CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): DSC3
    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: 600271   
    OMIM disorders: 613102  
    UniProtKB/Swiss-Prot: DSC3_HUMAN, Q14574
  • Hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]: A disorder characterized by hypotrichosis
    and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on
    scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the
    scalp and skin of most of the body. Mucosal vesicles are absent. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 19 diseases for DSC3:    About MalaCards
    subcorneal pustular dermatosis    hypotrichosis and recurrent skin vesicles    large cell carcinoma    arrhythmogenic right ventricular dysplasia/cardiomyopathy11
    pemphigus vulgaris    arrhythmogenic right ventricular dysplasia    pemphigus    hypotrichosis
    skin disease    esophageal cancer    esophagitis    oral squamous cell carcinoma
    esophageal squamous cell carcinoma    squamous cell carcinoma    colorectal cancer    breast cancer
    hepatocellular carcinoma    ovarian cancer    lung cancer

    1 disease from the University of Copenhagen DISEASES database for DSC3:
    Subcorneal pustular dermatosis

    DSC3 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for DSC3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    subcorneal pustular dermatosis 89.3 1 9242496 (1)
    pemphigus 77.9 36 19456767 (5), 9242496 (5), 8049552 (2), 15270874 (1) (see all 5)
    pemphigus vulgaris 62.7 5 19456767 (1), 8049552 (1), 9716266 (1)
    skin diseases 40.6 1 9242496 (1)
    carcinoma 11.5 2 8884173 (1), 7679953 (1)
    carcinoma squamous cell 8.35 1 8884173 (1)
    tumors 1.3 17 16168112 (6), 7750520 (2), 16799634 (1), 8143788 (1) (see all 6)
    breast cancer 0.838 5 16168112 (3), 16799634 (1), 12789271 (1)
    adenocarcinoma 0 6 17088906 (2)
    metastasis 0 1 17409975 (1)

    Genetic Association Database (GAD): DSC3
    Human Genome Epidemiology (HuGE) Navigator: DSC3 (12 documents)

    Export disorders for DSC3 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 DSC3 gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with DSC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. (PubMed id 7665906)1, 2, 9 King I.A.... Buxton R.S. (1995)
    2. Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. (PubMed id 11027496)1, 2, 9 Whittock N.V.... McGrath J.A. (2000)
    3. Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12. (PubMed id 7774948)1, 3, 9 Amagai M.... Shimizu N. (1995)
    4. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. (PubMed id 19765682)1, 2, 9 Ayub M....Ahmad W. (2009)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    7. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (2008)
    8. cDNA cloning and expression of a novel human desmocollin. (PubMed id 7929347)1, 2 Kawamura K.... Tsurufuji S. (1994)
    9. Nomenclature of the desmosomal cadherins. (PubMed id 8486729)1, 3 Buxton R.S....Stanley J.R. (1993)
    10. Epigenetic silencing of DSC3 is a common event in human breast cancer. (PubMed id 16168112)1, 9 Oshiro M.M....Futscher B.W. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1825 HGNC: 3037 AceView: DSC3 Ensembl:ENSG00000134762 euGenes: HUgn1825
    ECgene: DSC3 H-InvDB: DSC3

    (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 DSC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DSC3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DSC3 gene:
    Search GeneIP for patents involving DSC3

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



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