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DSP Gene

protein-coding   GIFtS: 68
GCID: GC06P007541

Desmoplakin

(Previous names: desmoplakin (DPI, DPII))
  See DSP-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
desmoplakin1 2     DPII2
250/210 KDa Paraneoplastic Pemphigus Antigen2 3     Desmoplakin I2
DP2 3     Desmoplakin II2
Desmoplakin (DPI, DPII)1     KPPS25
DPI2     PPKS25

External Ids:    HGNC: 30521   Entrez Gene: 18322   Ensembl: ENSG000000966967   OMIM: 1256475   UniProtKB: P159243   

Export aliases for DSP gene to outside databases

Previous GC identifers: GC06P007526 GC06P007486 GC06P007419


(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 DSP Gene:
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of
functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is
required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and
plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a
coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several
cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. (provided by
RefSeq, Jul 2008)

GeneCards Summary for DSP Gene:
DSP (desmoplakin) is a protein-coding gene. Diseases associated with DSP include keratosis palmoplantaris striata ii, and paraneoplastic pemphigus. GO annotations related to this gene include structural molecule activity and protein binding, bridging. An important paralog of this gene is MACF1.

UniProtKB/Swiss-Prot: DESP_HUMAN, P15924
Function: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal
cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate
filaments to the desmosomes

Gene Wiki entry for DSP (Desmoplakin) 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_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSP gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSP promoter sequence
   Search Chromatin IP Primers for DSP

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


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

Entrez Gene cytogenetic band: 6p24   Ensembl cytogenetic band:  6p24.3   HGNC cytogenetic band: 6p24.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P007541:  view genomic region     (about GC identifiers)

Start:
7,541,808 bp from pter      End:
7,586,950 bp from pter
Size:
45,143 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., 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: DESP_HUMAN, P15924 (See protein sequence)
Recommended Name: Desmoplakin  
Size: 2871 amino acids; 331774 Da
Subunit: Homodimer. Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14
(via rod region), KRT8-KRT18 and VIM intermediate filaments. Interacts with DSC2. Interacts with PKP2
3 PDB 3D structures from and Proteopedia for DSP:
1LM5 (3D)        1LM7 (3D)        3R6N (3D)    
Secondary accessions: B2RTT2 D7RX09 O75993 Q14189 Q9UHN4
Alternative splicing: 3 isoforms:  P15924-1   P15924-2   P15924-3   (Minor isoform)

Explore the universe of human proteins at neXtProt for DSP: NX_P15924

Explore proteomics data for DSP at MOPED

Post-translational modifications: 

  • Ser-2849 is probably phosphorylated by a cAMP-dependent protein kinase. Phosphorylation on Ser-2849 probably
    affects its association with epidermal, simple cytokeratins and VIM intermediate filaments1
  • Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other desmoplakin molecules, to
    other proteins such as keratin, envoplakin, periplakin and involucrin, and to lipids like omega-hydroxyceramide1
  • Ubiquitination2 at Lys94, Lys154, Lys931, Lys949
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008844.1  NP_004406.2  

    ENSEMBL proteins: 
     ENSP00000369129   ENSP00000396591  
    Reactome Protein details: P15924

    DSP Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR028462 Desmoplakin
     IPR018159 Spectrin/alpha-actinin
     IPR001101 Plectin_repeat

    Graphical View of Domain Structure for InterPro Entry P15924

    ProtoNet protein and cluster: P15924

    1 Blocks protein domain: IPB001101 Plectin repeat

    UniProtKB/Swiss-Prot: DESP_HUMAN, P15924
    Domain: Its association with epidermal and simple keratins is dependent on the tertiary structure induced by
    heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in
    the rod domain of these keratins
    Domain: The N-terminal region is required for localization to the desmosomal plaque and interacts with the
    N-terminal region of plakophilin 1
    Domain: The three tandem plakin repeat regions in the C-terminus mediate binding to intermediate filaments
    Similarity: Belongs to the plakin or cytolinker family
    Similarity: Contains 17 plectin repeats
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 6 spectrin repeats


    Find genes that share domains with DSP           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: DESP_HUMAN, P15924
    Function: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal
    cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate
    filaments to the desmosomes

         Genatlas biochemistry entry for DSP:
    desmoplakin DPI/II (desmosomal plaque component),BPAG1 homolog,intermediate filament associated protein (IFAP,type
    III),plakin family of cell junction proteins

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005080protein kinase C binding IPI18474624
    GO:0005198structural molecule activity IDA10908733
    GO:0005200structural constituent of cytoskeleton TAS9887343
    GO:0005515protein binding IPI10852826
    GO:0030674protein binding, bridging IDA10908733
         
    Find genes that share ontologies with DSP           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dsp):
     cellular  embryogenesis  growth/size/body  integument  mortality/aging 

    Find genes that share phenotypes with DSP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dsptm2Efu for DSP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSP
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DSP

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    miRTarBase miRNAs that target DSP:
    hsa-mir-34a-5p (MIRT025251), hsa-mir-16-5p (MIRT031374), hsa-let-7b-5p (MIRT001637), hsa-mir-186-5p (MIRT045149), hsa-mir-9-5p (MIRT021319), hsa-let-7e-5p (MIRT051650)

    Block miRNA regulation of human, mouse, rat DSP using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate DSP:
    hsa-miR-548p hsa-miR-137 hsa-miR-561 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidDSP 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSP


    (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
    DESP_HUMAN, P15924: Cell junction, desmosome. Cytoplasm, cytoskeleton. Note=Innermost portion of the desmosomal
    plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments
    network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane4
    nucleus3
    cytosol2
    extracellular2
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IDA10908733
    GO:0005739mitochondrion IEA--
    GO:0005856cytoskeleton ----
    GO:0005882colocalizes with intermediate filament ISS16917092
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with DSP           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 DSP About   (see all 9)  
    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
    3ERK Signaling
    ILK Signaling0.49
    4CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    5Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments


    Find genes that share SuperPaths with DSP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DSP
        ILK Signaling

    1 Cell Signaling Technology (CST) Pathway for DSP
        Adhesion

    2 GeneGo (Thomson Reuters) Pathways for DSP
        Cytoskeleton remodeling Keratin filaments
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    2 BioSystems Pathways for DSP
        Alpha6-Beta4 Integrin Signaling Pathway
    Arrhythmogenic right ventricular cardiomyopathy

    1 Reactome Pathway for DSP
        Apoptotic cleavage of cell adhesion proteins

    1 PharmGKB Pathway for DSP
        Antiarrhythmic Pathway, Pharmacodynamics

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSP: 
              Adherens Junctions in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DSP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DSP (P159242, 3 ENSP000003691294) via UniProtKB, MINT, STRING, and/or I2D (see all 879)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UCHL5Q9Y5K52, 3, ENSP000003564254MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000356425
    PKP4Q995692, 3, ENSP000003744094MINT-1792815 I2D: score=4 STRING: ENSP00000374409
    RELBQ012012, 3, ENSP000002214524MINT-49027 I2D: score=2 STRING: ENSP00000221452
    RANBP2P497922, 3MINT-7945693 MINT-7947479 I2D: score=1 
    IKBKEQ141642, 3MINT-48119 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002934desmosome organization ISS16917092
    GO:0003223ventricular compact myocardium morphogenesis ISS16917092
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0008544epidermis development TAS9887343

    Find genes that share ontologies with DSP           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 DSP (DESP)

    Selected Novoseek inferred chemical compound relationships for DSP gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asulam 74.1 1 12101406 (1)
    n,n-dimethylformamide 25.9 4 8344991 (2), 1560038 (1)
    tgf beta1 14.1 1 10653172 (1)
    ryanodine 13.8 2 19205777 (1)
    retinoic acid 13.3 3 8884182 (2), 9892899 (1)
    calcium 4.77 11 7698224 (3), 8269999 (2), 1324844 (1), 8941678 (1) (see all 8)
    sucrose 0 2 10852826 (1)
    steroid 0 1 10527821 (1)
    progesterone 0 4 15084247 (2), 9195978 (2)
    tyrosine 0 3 10226596 (1), 10564641 (1), 10427965 (1)



    Find genes that share compounds with DSP           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 )
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    REFSEQ mRNAs for DSP gene (2 alternative transcripts): 
    NM_001008844.1  NM_004415.2  

    Unigene Cluster for DSP:

    Desmoplakin
    Hs.519873  [show with all ESTs]
    Unigene Representative Sequence: NM_004415
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379802(uc003mxp.1 uc003mxq.1 uc021yle.1) ENST00000418664
    ENST00000506617
    miRNA
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    hsa-miR-548p hsa-miR-137 hsa-miR-561 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidDSP 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat DSP

    Additional mRNA sequence: 

    AB209992.1 AB621818.1 AF139065.1 AK130229.1 AK296756.1 AK301676.1 AK304182.1 BC140802.1 
    BC144587.1 HM151899.1 J05211.1 M77830.3 

    18 DOTS entries:

    DT.218340  DT.95300567  DT.91821901  DT.92047452  DT.92455313  DT.100820419  DT.121310943  DT.95199828 
    DT.100820421  DT.121310974  DT.121311064  DT.121311072  DT.40115466  DT.86840470  DT.95199822  DT.95199851 
    DT.95345525  DT.86856410 

    Selected AceView cDNA sequences (see all 483):

    BM759512 AA961816 BM976150 AW847688 AF139065 BQ654104 BM839177 AI076962 
    CA390720 AI220573 BM770416 BU727697 AA283207 AA703232 AI538577 BM682324 
    R33456 CD672814 AI340326 BP354839 AA026319 BF149265 BP365223 BM784733 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DSP    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
    SP1:                                                        -                                                                                                   
    SP2:                                                        -                                                                                                   
    SP3:                                                                                                                                                            

    ExUns: 23b ^ 24
    SP1:  -         
    SP2:            
    SP3:            


    ECgene alternative splicing isoforms for DSP

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


    DSP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 25) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Stem cells from human exfoliated deciduous teeth
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Epithelial Cells
             Granular Keratinocytes Stratified Epidermis
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    DSP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519873

    UniProtKB/Swiss-Prot: DESP_HUMAN, P15924
    Tissue specificity: Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides
    predominantly in tissues and cells of stratified origin

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSP: 
              Adherens Junctions in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    (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 DSP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dsp1 , 5 desmoplakin1, 5 87.88(n)1
    95.09(a)1
      13 (18.00 cM)5
    1096201  NM_023842.21  NP_076331.21 
     381513285 
    chicken
    (Gallus gallus)
    Aves DSP1 desmoplakin 74.13(n)
    77.67(a)
      420869  XM_418957.4  XP_418957.3 
    lizard
    (Anolis carolinensis)
    Reptilia DSP6
    desmoplakin
    75(a)
    1 ↔ 1
    GL343209.1(651271-710922)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244342 Xenopus laevis transcribed sequence with moderate similarity more 76.71(n)    CB209537.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dspa1 desmoplakin a 54.45(n)
    46.29(a)
      324023  XM_001919866.4  XP_001919901.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DSP gene
    MACF12  EVPLL2  EVPL2  EPPK12  PPL2  DST2  PLEC2  
    1 SIMAP similar gene for DSP using alignment to 2 protein entries:     DESP_HUMAN (see all proteins):
    DSP variant protein

    Find genes that share paralogs with DSP           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 DSP (see all 1257)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219129921,2,,4
    CArrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)4 pathogenic17494505(+) TGGAGC/G/TGACAA 4 S R mis10--------
    rs347384261,2,,4
    C,FArrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)4 --7510541(+) ACAGAG/TAGAGA 3 R I mis1 int15Minor allele frequency- T:0.00NA EU 5689
    rs289316101,2,,4
    CSkin fragility-woolly hair syndrome (SFWHS)4 pathogenic17513385(+) GTATTC/TGCTTA 4 R C mis10--------
    VAR_0656934
    Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)4--see VAR_0656932 I V mis40--------
    VAR_0238144
    Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)4--see VAR_0238142 R K mis40--------
    VAR_0155694
    Skin fragility-woolly hair syndrome (SFWHS)4--see VAR_0155692 N K mis40--------
    rs287639621,2
    Cnon-pathogenic17500618(+) TCGGCT/CTGGGA 2 -- int13Minor allele frequency- C:0.02CSA WA EU 751
    rs1219129981,2
    C,Fpathogenic17471024(+) ACGAGG/ATGACC 4 /M /V mis11Minor allele frequency- A:0.00NA 2746
    rs774457841,2
    C,Fprobable-non-pathogenic17471041(+) GGCGGG/AGGCAC 4 /G syn11Minor allele frequency- A:0.01NA 2608
    rs176046931,2,,4
    C,F,Hprobable-non-pathogenic17494521(+) CCAACA/TTCGCT 4 I F mis115Minor allele frequency- T:0.03NA NS EA EU 7195

    HapMap Linkage Disequilibrium report for DSP (7541808 - 7586950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for DSP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5189CNV Insertion18451855
    nsv462624CNV Loss19166990
    nsv883433CNV Gain21882294
    nsv462623CNV Gain19166990
    nsv830580CNV Gain17160897
    nsv470797CNV Gain18288195

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

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

    (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: 125647   
    OMIM disorders: 612908  605676  607450  607655  609638  
    UniProtKB/Swiss-Prot: DESP_HUMAN, P15924
  • Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]: A dermatological disorder characterized by
    thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the
    fingers. Abnormalities of the nails, the teeth and the hair are rarely present. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676]: An autosomal recessive
    cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the
    palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]: 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
  • Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]: An autosomal recessive genodermatosis
    characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic
    plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Epidermolysis bullosa, lethal acantholytic (EBLA) [MIM:609638]: A form of epidermolysis bullosa
    characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period
    because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and
    nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer,
    mimicking pemphigus. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DSP (see all 30):    
    About MalaCards
    keratosis palmoplantaris striata ii    paraneoplastic pemphigus    woolly hair syndrome    skin fragility woolly hair syndrome
    epidermolysis bullosa, lethal acantholytic    dsp-related ectodermal dysplasia/skin fragility syndrome    arrhythmogenic right ventricular dysplasia/cardiomyopathy 8    cardiomyopathy dilated with woolly hair and keratoderma
    pemphigus erythematosus    arrhythmogenic right ventricular dysplasia 8    erythema multiforme    hailey-hailey disease
    pemphigus    endodermal sinus tumor    naxos disease    spindle cell sarcoma
    keratosis palmoplantaris striata i, ad    transposition of the great arteries    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, left dominant form

    5 diseases from the University of Copenhagen DISEASES database for DSP:
    Arrhythmogenic right ventricular dysplasia     Bullous pemphigoid     Keratosis     Erythema multiforme
    LEOPARD syndrome

    Find genes that share disorders with DSP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DSP gene (see all 41)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carvajal syndrome 93.2 5 14761782 (1), 16175511 (1), 19558499 (1), 17045679 (1) (see all 5)
    naxos disease 89.8 5 16096717 (1), 16722579 (1), 16698823 (1), 19558499 (1) (see all 5)
    keratoderma palmoplantar 88.1 18 15149499 (2), 10594734 (2), 18957847 (1), 16175511 (1) (see all 14)
    pemphigus 87.1 20 9784047 (5), 1601988 (2), 1375506 (1), 7999603 (1) (see all 9)
    arrhythmogenic right ventricular dysplasia 86.3 9 15941723 (2), 17413274 (1), 18957847 (1), 12373648 (1) (see all 8)
    pemphigus vulgaris 83.6 6 2054341 (3), 1375506 (1), 11736914 (1)
    pemphigoid bullous 83 41 1390446 (2), 2247105 (2), 7999603 (1), 1497365 (1) (see all 28)
    hailey-hailey disease 75.9 7 2054341 (3), 7520458 (2), 1694381 (1)
    keratoderma 73.1 3 11063735 (1), 15897387 (1), 11841538 (1)
    cardiomyopathy 70.6 13 14761782 (1), 16461827 (1), 19178614 (1), 17105773 (1) (see all 13)

    GeneTests: DSP
    GeneReviews: DSP
    Genetic Association Database (GAD): DSP
    Human Genome Epidemiology (HuGE) Navigator: DSP (19 documents)

    Export disorders for DSP 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 DSP gene, integrated from 10 sources (see all 398):
    (articles sorted by number of sources associating them with DSP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4, 9 den Haan A.D.... Judge D.P. (Circ. Cardiovasc. Genet. 2009)
    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. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. (PubMed id 16175511)1, 2, 9 Jonkman M.F.... Pas H.H. (Am. J. Hum. Genet. 2005)
    4. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. (PubMed id 15941723)1, 2, 9 Bauce B.... Nava A. (Eur. Heart J. 2005)
    5. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. (PubMed id 11841538)1, 2, 9 Whittock N.V....McGrath J.A. (J. Invest. Dermatol. 2002)
    6. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (PubMed id 12373648)1, 2, 9 Rampazzo A....Danieli G.A. (Am. J. Hum. Genet. 2002)
    7. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. (PubMed id 11063735)1, 2, 9 Norgett E.E....Kelsell D.P. (Hum. Mol. Genet. 2000)
    8. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. (PubMed id 9887343)1, 2, 9 Armstrong D.K.... Hughes A.E. (Hum. Mol. Genet. 1999)
    9. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. (PubMed id 10594734)1, 2, 9 Whittock N.V.... McGrath J.A. (J. Invest. Dermatol. 1999)
    10. Molecular structure of the human desmoplakin I and II amino terminus. (PubMed id 1731325)1, 2, 9 Virata M.L.A.... Green K.J. (Proc. Natl. Acad. Sci. U.S.A. 1992)

    (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: 1832 HGNC: 3052 AceView: DSP Ensembl:ENSG00000096696 euGenes: HUgn1832
    ECgene: DSP Kegg: 1832 H-InvDB: DSP

    (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 DSP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DSP[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Desmoplakin

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DSP gene:
    Search GeneIP for patents involving DSP

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



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