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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
  • Alliance
  • Transcription Start Sites
    48 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:33947306-34347742 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 1, 12.91 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13761 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104627
protein coding gene Chr1:33946969-34347743 (+)
129S1/SvImJ MGP_129S1SvImJ_G0015906
protein coding gene Chr1:32282927-32697535 (+)
A/J MGP_AJ_G0015890
protein coding gene Chr1:31513546-31911966 (+)
AKR/J MGP_AKRJ_G0015846
protein coding gene Chr1:31872710-32287862 (+)
BALB/cJ MGP_BALBcJ_G0015844
protein coding gene Chr1:31150085-31557647 (+)
C3H/HeJ MGP_C3HHeJ_G0015678
protein coding gene Chr1:32081474-32490184 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016297
protein coding gene Chr1:33759297-34174359 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014019
protein coding gene Chr1:28690251-29088720 (+)
CAST/EiJ MGP_CASTEiJ_G0015258
protein coding gene Chr1:31924985-32344738 (+)
CBA/J MGP_CBAJ_G0015649
protein coding gene Chr1:34680925-35121069 (+)
DBA/2J MGP_DBA2J_G0015750
protein coding gene Chr1:30840369-31239916 (+)
FVB/NJ MGP_FVBNJ_G0015752
protein coding gene Chr1:30383773-30783613 (+)
LP/J MGP_LPJ_G0015820
protein coding gene Chr1:32625796-33035489 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015772
protein coding gene Chr1:36970738-37386290 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016344
protein coding gene Chr1:31857892-32274864 (+)
PWK/PhJ MGP_PWKPhJ_G0015041
protein coding gene Chr1:30565781-30973693 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014824
protein coding gene Chr1:31839350-32261911 (+)
WSB/EiJ MGP_WSBEiJ_G0015320
protein coding gene Chr1:31846568-32262605 (+)



Homology
more
  • Human Ortholog
    DST, dystonin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DST, dystonin
  • Synonyms
    BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBS3, EBSB2, HSAN6, MACF2
  • Links
    NCBI Gene ID: 667
    neXtProt AC: NX_Q03001
    UniProt: Q03001

  • Chr Location
    6p12.1; chr6:56457987-56954830 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with Dst mouse models; 2 with human DST associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
      
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
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  • Phenotype Summary
    98 phenotypes from 27 alleles in 31 genetic backgrounds
    1 images
    102 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.
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
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026131 Ensembl Gene Model | MGI Sequence Detail 400437 C57BL/6J ±  kb
    transcript ENSMUST00000183034 Ensembl | MGI Sequence Detail 23201 Not Applicable  
    polypeptide ENSMUSP00000138308 Ensembl | MGI Sequence Detail 7717 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 4
      cDNA 43
      Other 2

      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 174
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 21
      Phenotypes 102
    • Earliest
      J:15323 DUCHEN LW, et al., CLINICAL AND PATHOLOGICAL STUDIES OF AN HEREDITARY NEUROPATHY IN MICE (DYSTONIA MUSCULORUM). Brain. 1964 Jun;87:367-78
    • Latest
      J:354613 Yoshioka N, et al., Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6. Sci Adv. 2024 Jul 26;10(30):eadj9335

    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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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory