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Dsp Gene Detail
Summary
  • Symbol
    Dsp
  • Name
    desmoplakin
  • Synonyms
    2300002E22Rik, 5730453H04Rik, DP, rul
  • Feature Type
    protein coding gene
  • IDs
    MGI:109611
    NCBI Gene: 109620
  • Gene Overview
    MyGene.info: DSP
Location & Maps
more
  • Sequence Map
    Chr13:38151328-38198577 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47250 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 18.00 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    DSP, desmoplakin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DSP, desmoplakin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DCWHKTA, DP
  • Links
    NCBI Gene ID: 1832
    neXtProt AC: NX_P15924
    UniProt: P15924

  • Chr Location
    6p24.3; chr6:7541575-7586717 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 37922
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 macaque, rhesus
  • HCOP
    human homology predictions: DSP
  • Gene Tree
    Dsp
Human Diseases
more
  • Diseases
    2 with Dsp mouse models; 2 with human DSP associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 3 alleles in 5 genetic backgrounds
    1 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    339 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 10
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-39610, MGI:1924017, MGI:2145143, MGI:2145144, MGI:2145412, MGI:3511271
References
more
  • Summaries
    All 101
    Developmental Gene Expression 45
    Diseases 2
    Gene Ontology 16
    Phenotypes 20
  • Earliest
    J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
  • Latest
    J:238284 Simard-Bisson C, et al., A Role for DLK in Microtubule Reorganization to the Cell Periphery and in the Maintenance of Desmosomal and Tight Junction Integrity. J Invest Dermatol. 2017 Jan;137(1):132-141

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory