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Aliases for DSP Gene

Aliases for DSP Gene

  • Desmoplakin 2 3 5
  • 250/210 KDa Paraneoplastic Pemphigus Antigen 3 4
  • DP 3 4
  • Desmoplakin (DPI, DPII) 2
  • DCWHKTA 3

External Ids for DSP Gene

Previous GeneCards Identifiers for DSP Gene

  • GC06P007526
  • GC06P007486
  • GC06P007419

Summaries for DSP Gene

Entrez Gene Summary for DSP Gene

  • This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for DSP Gene

DSP (Desmoplakin) is a Protein Coding gene. Diseases associated with DSP include cardiomyopathy, dilated, with woolly hair and keratoderma and epidermolysis bullosa, lethal acantholytic. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include poly(A) RNA binding and structural constituent of cytoskeleton. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot for DSP Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSP Gene

Genomics for DSP Gene

Regulatory Elements for DSP Gene

Enhancers for DSP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DSP on UCSC Golden Path with GeneCards custom track

Promoters for DSP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DSP on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DSP gene promoter:

Genomic Location for DSP Gene

Chromosome:
6
Start:
7,541,575 bp from pter
End:
7,586,717 bp from pter
Size:
45,143 bases
Orientation:
Plus strand

Genomic View for DSP Gene

Genes around DSP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSP Gene

Proteins for DSP Gene

  • Protein details for DSP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15924-DESP_HUMAN
    Recommended name:
    Desmoplakin
    Protein Accession:
    P15924
    Secondary Accessions:
    • B2RTT2
    • D7RX09
    • O75993
    • Q14189
    • Q9UHN4

    Protein attributes for DSP Gene

    Size:
    2871 amino acids
    Molecular mass:
    331774 Da
    Quaternary structure:
    • 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. Interacts weakly with TMEM65 (By similarity).

    Three dimensional structures from OCA and Proteopedia for DSP Gene

    Alternative splice isoforms for DSP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSP Gene

Proteomics data for DSP Gene at MOPED

Post-translational modifications for DSP Gene

  • 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 filaments.
  • 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-hydroxyceramide (PubMed:9651377).
  • Ubiquitination at Lys 94, Lys 154, Lys 931, and Lys 949
  • Modification sites at PhosphoSitePlus

Other Protein References for DSP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DSP (Desmoplakin)

No data available for DME Specific Peptides for DSP Gene

Domains & Families for DSP Gene

Gene Families for DSP Gene

Protein Domains for DSP Gene

Suggested Antigen Peptide Sequences for DSP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15924

UniProtKB/Swiss-Prot:

DESP_HUMAN :
  • 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.
  • Belongs to the plakin or cytolinker family.
  • Contains 17 plectin repeats.
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.
  • The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal region of plakophilin 1.
  • The three tandem plakin repeat regions in the C-terminus mediate binding to intermediate filaments.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the plakin or cytolinker family.
Similarity:
  • Contains 17 plectin repeats.
  • Contains 6 spectrin repeats.
genes like me logo Genes that share domains with DSP: view

Function for DSP Gene

Molecular function for DSP Gene

GENATLAS Biochemistry:
desmoplakin DPI/II (desmosomal plaque component),BPAG1 homolog,intermediate filament associated protein (IFAP,type III),plakin family of cell junction proteins
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10852826
genes like me logo Genes that share ontologies with DSP: view
genes like me logo Genes that share phenotypes with DSP: view

Human Phenotype Ontology for DSP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSP Gene

MGI Knock Outs for DSP:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSP Gene

Localization for DSP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSP Gene

Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network (PubMed:12802069). Localizes at the intercalated disk in cardiomyocytes (By similarity). {ECO:0000250 UniProtKB:E9Q557, ECO:0000269 PubMed:12802069}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSP Gene COMPARTMENTS Subcellular localization image for DSP gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 4
cytosol 2

Gene Ontology (GO) - Cellular Components for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with DSP: view

Pathways & Interactions for DSP Gene

genes like me logo Genes that share pathways with DSP: view

Pathways by source for DSP Gene

Gene Ontology (GO) - Biological Process for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003223 ventricular compact myocardium morphogenesis ISS 16917092
GO:0006915 apoptotic process TAS --
GO:0008544 epidermis development TAS 9887343
GO:0012501 programmed cell death TAS --
GO:0016337 single organismal cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with DSP: view

No data available for SIGNOR curated interactions for DSP Gene

Drugs & Compounds for DSP Gene

(7) Drugs for DSP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for DSP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSP: view

Transcripts for DSP Gene

Unigene Clusters for DSP Gene

Desmoplakin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DSP Gene

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:

Relevant External Links for DSP Gene

GeneLoc Exon Structure for
DSP
ECgene alternative splicing isoforms for
DSP

Expression for DSP Gene

mRNA expression in normal human tissues for DSP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSP Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x13.4), Skin - Not Sun Exposed (Suprapubic) (x11.7), Esophagus - Mucosa (x8.2), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for DSP Gene

This gene is overexpressed in Hair follicle (23.2), Saliva (9.4), and Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DSP Gene



SOURCE GeneReport for Unigene cluster for DSP Gene Hs.519873

mRNA Expression by UniProt/SwissProt for DSP Gene

P15924-DESP_HUMAN
Tissue specificity: Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.
genes like me logo Genes that share expression patterns with DSP: view

Protein tissue co-expression partners for DSP Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DSP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DSP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DSP 35
  • 86.79 (n)
  • 94.5 (a)
DSP 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSP 35
  • 89.35 (n)
  • 95.05 (a)
DSP 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsp 35
  • 87.88 (n)
  • 95.09 (a)
Dsp 16
Dsp 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSP 35
  • 99.56 (n)
  • 99.72 (a)
DSP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsp 35
  • 88.74 (n)
  • 95.43 (a)
oppossum
(Monodelphis domestica)
Mammalia DSP 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSP 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSP 35
  • 74.13 (n)
  • 77.67 (a)
DSP 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSP 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24434 35
zebrafish
(Danio rerio)
Actinopterygii dspa 35
  • 54.45 (n)
  • 46.29 (a)
dspa 36
  • 51 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLP2 38
Species with no ortholog for DSP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSP Gene

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

Paralogs for DSP Gene

Paralogs for DSP Gene

(1) SIMAP similar genes for DSP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DSP: view

Variants for DSP Gene

Sequence variations from dbSNP and Humsavar for DSP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121912992 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) 7,565,478(+) TGGAG(C/G/T)GACAA reference, synonymous-codon, missense
VAR_015569 Skin fragility-woolly hair syndrome (SFWHS)
rs28931610 Skin fragility-woolly hair syndrome (SFWHS) 7,584,358(+) GTATT(C/T)GCTTA reference, missense
VAR_018158 -
rs2076299 - 7,580,725(+) CCAGT(A/G)TGACC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DSP Gene

Variant ID Type Subtype PubMed ID
nsv462623 CNV Gain 19166990
nsv470797 CNV Gain 18288195
nsv883433 CNV Gain 21882294
nsv830580 CNV Gain 17160897
nsv5189 CNV Insertion 18451855
nsv462624 CNV Loss 19166990

Variation tolerance for DSP Gene

Residual Variation Intolerance Score: 2.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.96; 95.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSP Gene

HapMap Linkage Disequilibrium report
DSP
Human Gene Mutation Database (HGMD)
DSP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSP Gene

Disorders for DSP Gene

MalaCards: The human disease database

(47) MalaCards diseases for DSP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, with woolly hair and keratoderma
  • dilated cardiomyopathy with woolly hair and keratoderma
epidermolysis bullosa, lethal acantholytic
  • ebla
skin fragility-woolly hair syndrome
  • sfwhs
arrhythmogenic right ventricular dysplasia 8
  • arvd8
dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
  • cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
- elite association - COSMIC cancer census association via MalaCards
Search DSP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DESP_HUMAN
  • 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. {ECO:0000269 PubMed:12373648, ECO:0000269 PubMed:15941723, ECO:0000269 PubMed:20031617}. 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. {ECO:0000269 PubMed:11063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]: A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. {ECO:0000269 PubMed:16628197, ECO:0000269 PubMed:20940358, ECO:0000269 PubMed:22795705}. 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.
  • 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. {ECO:0000269 PubMed:9887343}. 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. {ECO:0000269 PubMed:11841538}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DSP

Genetic Association Database (GAD)
DSP
Human Genome Epidemiology (HuGE) Navigator
DSP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSP
genes like me logo Genes that share disorders with DSP: view

No data available for Genatlas for DSP Gene

Publications for DSP Gene

  1. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan A.D. … Judge D.P. (Circ. Cardiovasc. Genet. 2009) 3 4 48 67
  2. Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PMID: 1889810) Arnemann J. … Buxton R.S. (Genomics 1991) 2 3 23
  3. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. (PMID: 19924139) Mahoney M.G. … Peltonen S. (J. Invest. Dermatol. 2010) 3 23
  4. Lethal acantholytic epidermolysis bullosa. (PMID: 19945626) McGrath J.A. … Jonkman M.F. (Dermatol Clin 2010) 3 23
  5. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. (PMID: 19016709) Tanaka A. … McGrath J.A. (Br. J. Dermatol. 2009) 3 23

Products for DSP Gene

Sources for DSP Gene

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