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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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:38335270-38382553 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 18.00 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    336 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 Chr13:38335270-38382553 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DSP, desmoplakin
  • Synonyms
    DCWHKTA, DP
  • Links
    NCBI Gene ID: 1832
    neXtProt AC: NX_P15924
    UniProt: P15924

  • Chr Location
    6p24.3; chr6:7541338-7586714 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Dsp mouse models; 5 with human DSP associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
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
    68 phenotypes from 5 alleles in 7 genetic backgrounds
    1 images
    35 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 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. Epidermis-specific conditional KO leads to compositionally altered epidermal desmosomes. Homozygosity for a specific point mutation is embryonic lethal while heterozygosity increases sensitivity to induced heart stress.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    20
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    1056
  • Tissues
    89
  • cDNA Data
    11
  • Literature Summary
    67
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 109620 NCBI Gene Model | MGI Sequence Detail 47284 C57BL/6J ±  kb
    transcript NM_023842 RefSeq | MGI Sequence Detail 9505 C57BL/6  
    polypeptide E9Q557 UniProt | EBI | MGI Sequence Detail 2883 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-39610, MGI:1924017, MGI:2145143, MGI:2145144, MGI:2145412, MGI:3511271
    References
    more
    • Summaries
      All 143
      Developmental Gene Expression 67
      Diseases 2
      Gene Ontology 20
      Phenotypes 35
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:344350 Griffin EN, et al., RREB1 regulates neuronal proteostasis and the microtubule network. Sci Adv. 2024 Jan 12;10(2):eadh3929
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory