About   Help   FAQ
Dst Gene Detail
Summary
  • Symbol
    Dst
  • Name
    dystonin
  • Synonyms
    2310001O04Rik, A830042E19Rik, ah, athetoid, Bpag, Bpag1, BPAG1, BPAG1-n, bullous pemphigoid antigen 1, bullous pemphigoid antigen 1, Macf2, mKIAA0728, nmf203, nmf339
  • Feature Type
    protein coding gene
  • IDs
    MGI:104627
    NCBI Gene: 13518
  • Gene Overview
    MyGene.info: DST
Location & Maps
more
  • Sequence Map
    Chr1:33908225-34308661 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      400437 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DST, dystonin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DST, dystonin
    Orthology source: HGNC
  • Synonyms
    BP240, BPA, BPAG1, CATX15, CATX-15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2
  • Links
    NCBI Gene ID: 667
    neXtProt AC: NX_Q03001

  • Chr Location
    6p12.1; chr6:56457987-56954628 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 136716
    1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: DST
  • Gene Tree
    Dst
Human Diseases
more
  • Diseases
    1 with Dst mouse models; 2 with human DST associations

Human Disease Mouse Models
       Neuropathy, Hereditary Sensory and Autonomic, Type VI; HSAN6   OMIM: 614653 View 1 model
       Epidermolysis Bullosa Simplex, Autosomal Recessive 2; EBSB2   OMIM: 615425
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 22 alleles in 26 genetic backgrounds
    1 images
    87 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
    299
  • Chemically induced (ENU)
    6
  • Chemically induced (other)
    2
  • Gene trapped
    271
  • Spontaneous
    15
  • Targeted
    4
  • Transgenic
    1
  • Genomic Mutations
    1 involving Dst
  • Incidental Mutations
Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.
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
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
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044431 VEGA Gene Model | MGI Sequence Detail 400437 C57BL/6J ±  kb
transcript OTTMUST00000116984 VEGA | MGI Sequence Detail 23201 Not Applicable  
polypeptide OTTMUSP00000065431 VEGA | MGI Sequence Detail 7717 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    3625 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 45
    Genomic 4
    cDNA 40
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-1199, MGD-MRK-1612, MGD-MRK-1613, MGD-MRK-26064, MGD-MRK-8910, MGI:1916744, MGI:2138613, MGI:2444206, MGI:2681949, MGI:3580062
References
more
  • Summaries
    All 143
    Developmental Gene Expression 17
    Diseases 1
    Gene Ontology 15
    Phenotypes 87
  • Earliest
    J:24773 Lane PW, New mutants: Dancer, Athetoid, and mahogany. Mouse News Lett. 1958;19:25
  • Latest
    J:228781 Horie M, et al., Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice. Eur J Neurosci. 2014 Nov;40(10):3458-71

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory