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


Mapping data(7)
Sequence Map
Chr13:38151328-38198577 bp, + strand
From VEGA annotation of GRCm38

  47250 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  DP, DPI, DPII
Human Chr (Location)  6p24; chr6:7541637-7586713 (+)  GRCh38
Disease Associations  (5) Diseases Associated with Human DSP
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(3) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Dsp interacts with 189 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process adherens junction organization, bundle of His cell to Purkinje myocyte communication, ...
Component basolateral plasma membrane, cell-cell junction, ...
Function cell adhesion molecule binding, poly(A) RNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (39 records)
Data Summary: Results (291)    Tissues (61)    Images (59)
Theiler Stages: 8, 10, 11, 12, 13, 14, 15, 18, 23, 25, 27, 28
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)
DFCITC1599387, TC1655017, TC1750458
DoTSDT.40180834, DT.535228, DT.94237242
Consensus CDS ProjectCCDS49239.1
International Mouse Knockout Project StatusDsp
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(339 from dbSNP Build 137)
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:207861 Manthey AL, et al., Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development. Mech Dev. 2014 Feb;131:86-110
All references(89)
Other
accession IDs
MGD-MRK-39610, MGI:1924017, MGI:2145143, MGI:2145144, MGI:2145412

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
08/26/2014
MGI 5.19
The Jackson Laboratory