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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
    38
  • 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 ENSMUSGG00200054710
protein coding gene Chr1:31816945-31888830 (+)
129S1/SvImJ ENSMUSG00200002726
protein coding gene Chr1:31740935-31773837 (+)
129S1/SvImJ ENSMUSGG00200054907
protein coding gene Chr1:31586709-31735028 (+)
A/J ENSMUSGG00195055248
protein coding gene Chr1:31258575-31406912 (+)
A/J ENSMUSG00195039408
protein coding gene Chr1:31412799-31445671 (+)
A/J ENSMUSGG00195055245
protein coding gene Chr1:31489002-31560826 (+)
AKR/J ENSMUSGG00220054860
protein coding gene Chr1:31282214-31433101 (+)
AKR/J ENSMUSGG00220054770
protein coding gene Chr1:31515182-31587039 (+)
AKR/J ENSMUSG00220008544
protein coding gene Chr1:31438908-31471826 (+)
BALB/cJ ENSMUSG00180011351
protein coding gene Chr1:31524764-31557697 (+)
BALB/cJ ENSMUSGG00180055270
protein coding gene Chr1:31370301-31518953 (+)
BALB/cJ ENSMUSGG00180055478
protein coding gene Chr1:31601034-31672847 (+)
C3H/HeJ ENSMUSGG00175054735
protein coding gene Chr1:31262871-31411237 (+)
C3H/HeJ ENSMUSGG00175055049
protein coding gene Chr1:31493321-31565153 (+)
C3H/HeJ ENSMUSG00175001052
protein coding gene Chr1:31417124-31449994 (+)
C57BL/6NJ ENSMUSGG00215055654
protein coding gene Chr1:31347318-31495979 (+)
C57BL/6NJ ENSMUSG00215026484
protein coding gene Chr1:31501786-31534721 (+)
C57BL/6NJ ENSMUSGG00215055525
protein coding gene Chr1:31578057-31649867 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014019
protein coding gene Chr1:28690251-29088720 (+)
CAST/EiJ no annotation
CBA/J ENSMUSGG00210054723
protein coding gene Chr1:31339111-31410960 (+)
CBA/J ENSMUSGG00210054719
protein coding gene Chr1:31108678-31257029 (+)
CBA/J ENSMUSG00210004690
protein coding gene Chr1:31262836-31295754 (+)
DBA/2J ENSMUSGG00185057714
protein coding gene Chr1:32172772-32321128 (+)
DBA/2J ENSMUSGG00185057820
protein coding gene Chr1:32403255-32475040 (+)
DBA/2J ENSMUSG00185010120
protein coding gene Chr1:32327035-32359922 (+)
FVB/NJ ENSMUSGG00205054415
protein coding gene Chr1:31288307-31436679 (+)
FVB/NJ ENSMUSGG00205054435
protein coding gene Chr1:31518770-31590590 (+)
FVB/NJ ENSMUSG00205031965
protein coding gene Chr1:31442562-31475434 (+)
JF1/MsJ no annotation
LP/J ENSMUSGG00230055639
protein coding gene Chr1:32459100-32530981 (+)
LP/J ENSMUSG00230025770
protein coding gene Chr1:32383093-32415993 (+)
LP/J ENSMUSGG00230055364
protein coding gene Chr1:32228889-32377186 (+)
NOD/ShiLtJ ENSMUSGG00190054706
protein coding gene Chr1:31499700-31571479 (+)
NOD/ShiLtJ ENSMUSG00190034548
protein coding gene Chr1:31423488-31456367 (+)
NOD/ShiLtJ ENSMUSGG00190054511
protein coding gene Chr1:31276419-31417587 (+)
NZO/HlLtJ ENSMUSGG00225055546
protein coding gene Chr1:35492659-35641018 (+)
NZO/HlLtJ ENSMUSG00225013563
protein coding gene Chr1:35646901-35679773 (+)
NZO/HlLtJ ENSMUSGG00225055523
protein coding gene Chr1:35723105-35794918 (+)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



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, CMYO29, D6S1101, DMH, DT, EBS3, EBSB2, HSAN6, LCCS12, MACF2
  • Links
    NCBI Gene ID: 667
    UniProt: Q03001

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

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

Human Disease Mouse Models
      
IDs
View 2 models
      
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
    104 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
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
  • Sequences &
    Gene Models
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    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 59
      Genomic 4
      cDNA 50
      Primer pair 3
      Other 2
      Antibodies 4

      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 182
      Developmental Gene Expression 24
      Diseases 2
      Gene Ontology 21
      Phenotypes 104
    • 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:390780 Qasrawi F, et al., DeltaNP63 regulates epithelial stratification and differentiation in the murine ureter. Am J Physiol Renal Physiol. 2026 Aug 1;331(2):F286-F303

    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
    09/01/2026
    MGI 6.24
    The Jackson Laboratory