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Dsp
Gene Detail
Symbol

Name
ID
Dsp
desmoplakin
MGI:109611
Synonyms
2300002E22Rik, 5730453H04Rik, DP, rul
Feature Type
protein coding gene
Genetic Map
Chromosome 13
18.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr13:35876925-43767806 bp
From MGI annotation of GRCm38

  7890882 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37922  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Dsp

Human
homologs
Human Homolog   DSP, desmoplakin
NCBI Gene ID 1832
neXtProt AC  NX_P15924
Human Synonyms  DCWHKTA, DP, DPI, DPII
Human Chr (Location)  6p24; chr6:7541637-7586713 (+)  GRCh38
Disease Associations  (6) Diseases Associated with Human DSP
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Spontaneous(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes.
 
Human Diseases Modeled in Mice Using Dsp (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Dsp interacts with 189 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (40 records)
Data Summary: Results (291)    Tissues (61)    Images (59)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 16
RNA in situ 274
Western blot 1
cDNA source data(10)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000032599 (Evidence)
Ensembl Gene ModelENSMUSG00000054889 (Evidence)
Entrez Gene109620 (Evidence)
DFCITC1750458, TC1655017, TC1599387
DoTSDT.535228, DT.40180834, DT.94237242
Consensus CDS ProjectCCDS49239.1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032599 VEGA Gene Model | MGI Sequence Detail 47250 C57BL/6J ±  kb
transcript OTTMUST00000081065 VEGA | MGI Sequence Detail 9538 Not Applicable 
polypeptide OTTMUSP00000043295 VEGA | MGI Sequence Detail 2883 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(4) UniProt(4)
Polymorphisms
SNPs within 2kb(51305 from dbSNP Build 137)    SNPs within 2kb including multiple locations(51357)
Protein-related
information
ResourceIDDescription
InterPro IPR001101 Plectin repeat
InterPro IPR018159 Spectrin/alpha-actinin
Protein Ontology PR:000006711 desmoplakin
References
(Earliest) J:29901 Proetzel G, et al., Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet. 1995 Dec;11(4):409-14
(Latest) J:217650 Pratt CH, et al., Dsp: A spontaneous mouse mutation in desmoplakin as a model 2 of Carvajal-Huerta syndrome. Exp Mol Pathol. 2015;
All references(90)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-39610, MGI:1924017, MGI:2145143, MGI:2145144, MGI:2145412, MGI:3511271

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory