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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
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:38151294-38198577 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 18.00 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    339 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109611
protein coding gene Chr13:38151082-38198577 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020470
protein coding gene Chr13:36475388-36526761 (+)
A/J MGP_AJ_G0020424
protein coding gene Chr13:35320163-35367890 (+)
AKR/J MGP_AKRJ_G0020402
protein coding gene Chr13:36251524-36302090 (+)
BALB/cJ MGP_BALBcJ_G0020420
protein coding gene Chr13:35419737-35467881 (+)
C3H/HeJ MGP_C3HHeJ_G0020219
protein coding gene Chr13:36081008-36130018 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020853
protein coding gene Chr13:37656350-37726502 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018440
protein coding gene Chr13:33507728-33553321 (+)
CAST/EiJ MGP_CASTEiJ_G0019734
protein coding gene Chr13:35855585-35905499 (+)
CBA/J MGP_CBAJ_G0020180
protein coding gene Chr13:39254613-39319839 (+)
DBA/2J MGP_DBA2J_G0020302
protein coding gene Chr13:34839515-34887380 (+)
FVB/NJ MGP_FVBNJ_G0020281
protein coding gene Chr13:34376208-34424601 (+)
LP/J MGP_LPJ_G0020377
protein coding gene Chr13:36715021-36771014 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020311
protein coding gene Chr13:39365095-39420648 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020896
protein coding gene Chr13:35830141-35881583 (+)
PWK/PhJ MGP_PWKPhJ_G0019489
protein coding gene Chr13:34965205-35014812 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019320
protein coding gene Chr13:34491939-34540789 (+)
WSB/EiJ MGP_WSBEiJ_G0019796
protein coding gene Chr13:36167415-36218922 (+)



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
less
  • Phenotype Summary
    55 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000054889 Ensembl Gene Model | MGI Sequence Detail 47284 C57BL/6J ±  kb
    transcript ENSMUST00000124830 Ensembl | MGI Sequence Detail 9592 Not Applicable  
    polypeptide ENSMUSP00000115062 Ensembl | MGI Sequence Detail 2883 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      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 114
      Developmental Gene Expression 52
      Diseases 2
      Gene Ontology 19
      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:257963 Sun X, et al., Cardiac-enriched BAF chromatin-remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function. Biol Open. 2018 Jan 5;7(1)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory