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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
Homology
more
  • Human Ortholog
    DSP, desmoplakin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DSP, desmoplakin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DCWHKTA, DP
  • Links
    NCBI Gene ID: 1832
    neXtProt AC: NX_P15924

  • Chr Location
    6p24; chr6:7541575-7586713 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 37922
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish
  • HCOP
    human homology predictions: DSP
  • Gene Tree
    Dsp
Human Diseases
more
  • Diseases
    2 with Dsp mouse models; 6 with human DSP associations

Human Disease Mouse Models
       Arrhythmogenic Right Ventricular Dysplasia, Familial, 8; ARVD8   OMIM: 607450 View 1 model
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma; DCWHK   OMIM: 605676 View 1 model
       Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis; DCWHKTA   OMIM: 615821
Epidermolysis Bullosa, Lethal Acantholytic; EBLA   OMIM: 609638
Keratosis Palmoplantaris Striata II; PPKS2   OMIM: 612908
Skin Fragility-Woolly Hair Syndrome; SFWHS   OMIM: 607655
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Dsp
  • Incidental Mutations
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
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    50944 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 10
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-39610, MGI:1924017, MGI:2145143, MGI:2145144, MGI:2145412, MGI:3511271
References
more
  • Summaries
    All 92
    Developmental Gene Expression 42
    Diseases 4
    Gene Ontology 15
    Phenotypes 19
  • 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:227218 Sharma P, et al., Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function. Nat Commun. 2015;6:8391

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
04/26/2016
MGI 6.03
The Jackson Laboratory