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
  gene page
• Transcription Start Sites
  48 TSS

Location &
Maps

• Sequence Map
  Chr1:33947306-34347742 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 1, 12.91 cM
• Mapping Data
  11 experiments

Strain
Comparison

• SNPs within 2kb
  13761 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  2

Strain	Gene Model ID	Feature Type	Coordinates
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

• 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
  HGNC:1090

  NCBI Gene ID: 667

  neXtProt AC: NX_Q03001

  UniProt: Q03001

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

---

• MGI Vertebrate Homology
  Dst stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: DST
• Gene Tree
  Dst
  

Human Diseases

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

Human Disease

Mouse Models

hereditary sensory and autonomic neuropathy type 6

IDs

hereditary sensory and autonomic neuropathy type 6      

DOID:0070151
ICD10CM:G60.8
OMIM:614653
ORDO:314381

View 1 model

Mouse Models

Human Disease Modeled: hereditary sensory and autonomic neuropathy type 6

Allelic Composition	Genetic Background	Reference	Phenotypes
Dstdt-23Rbrc/Dstdt-23Rbrc	involves: C3H/HeN * C57BL/6	J:251779	View

hereditary sensory neuropathy

IDs

hereditary sensory neuropathy      

DOID:0050548
MESH:D009477
OMIM:PS162400

View 1 model

Mouse Models

Human Disease Modeled: hereditary sensory neuropathy

Allelic Composition	Genetic Background	Reference	Phenotypes
DstTg4/DstTg4	involves: C57BL/6 * CD-1	J:209161	View

epidermolysis bullosa simplex

IDs

epidermolysis bullosa simplex      

DOID:4644
ICD10CM:Q81.0
MESH:D016110
NCI:C84692
OMIM:601001
OMIM:615425
ORDO:304
UMLS_CUI:C0079298

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

• Phenotype Summary
  98 phenotypes from 27 alleles in 31 genetic backgrounds
  1 images
  102 phenotype references
  

• All Mutations and Alleles
  240
• Chemically induced (ENU)
  6
• Chemically induced (other)
  2
• Endonuclease-mediated
  19
• Gene trapped
  192
• Spontaneous
  16
• Targeted
  4
• Transgenic
  1
• Genomic Mutations
  1 involving Dst
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  557 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  82
• GO References
  21

Expression

• Assay Results
  895
• Tissues
  109
• cDNA Data
  35
• Literature Summary
  22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase dst

Sequences &
Gene Models

• All Sequences
  188
• RefSeq
  76
• UniProt
  16
• CCDS
  CCDS35534.1, CCDS35535.1, CCDS69874.1, CCDS69875.1

• Ensembl
  ENSMUSG00000026131 (Evidence)
• NCBI Gene
  13518

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000026131	Ensembl Gene Model | MGI Sequence Detail	400437	C57BL/6J
transcript	ENSMUST00000183034	Ensembl | MGI Sequence Detail	23201	Not Applicable
polypeptide	ENSMUSP00000138308	Ensembl | MGI Sequence Detail	7717	Not Applicable

Protein
Information

• UniProt
  16 Sequences
• Protein Ontology
  PR:000031275 dystonin
  (term hierarchy)
• PDB
  2IAK
• InterPro Domains
  IPR001589 Actinin-type actin-binding domain, conserved site
  IPR001715 Calponin homology domain
  IPR036872 CH domain superfamily
  IPR041615 Desmoplakin, SH3 domain
  IPR041573 Desmoplakin, spectrin-like domain
  IPR018247 EF-Hand 1, calcium-binding site
  IPR002048 EF-hand domain
  IPR011992 EF-hand domain pair
  IPR003108 GAR domain
  IPR036534 GAR domain superfamily
  IPR043197 Plakin
  IPR035915 Plakin repeat superfamily
  IPR049538 Plectin-like, spectrin-like repeat
  IPR001101 Plectin repeat
  IPR001452 SH3 domain
  IPR018159 Spectrin/alpha-actinin
  IPR002017 Spectrin repeat
• GlyGen
  Q91ZU6 10 sites, 8 N-linked glycans (9 sites), 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 49

  Genomic 4

  cDNA 43

  Other 2

  
  

  Microarray probesets 5

Other
Accession IDs

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

• 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

TSS for Dst:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6156	Chr1:33946945-33947030 (+)	-318 bp
Tssr6157	Chr1:33947101-33947146 (+)	-182 bp
Tssr6158	Chr1:33947158-33947171 (+)	-141 bp
Tssr6159	Chr1:33947253-33947265 (+)	-47 bp
Tssr6160	Chr1:33950659-33950665 (+)	3,356 bp
Tssr6167	Chr1:34044953-34044989 (+)	97,665 bp
Tssr6168	Chr1:34044999-34045024 (+)	97,706 bp
Tssr6169	Chr1:34050309-34050331 (+)	103,014 bp
Tssr6170	Chr1:34050338-34050349 (+)	103,038 bp
Tssr6171	Chr1:34050631-34050640 (+)	103,330 bp
Tssr6172	Chr1:34050645-34050683 (+)	103,358 bp
Tssr6173	Chr1:34061792-34061804 (+)	114,492 bp
Tssr6174	Chr1:34061837-34061851 (+)	114,538 bp
Tssr6175	Chr1:34061871-34061884 (+)	114,572 bp
Tssr6176	Chr1:34092738-34092769 (+)	145,448 bp
Tssr6177	Chr1:34104843-34104848 (+)	157,540 bp
Tssr6178	Chr1:34107650-34107682 (+)	160,360 bp
Tssr6179	Chr1:34116271-34116300 (+)	168,980 bp
Tssr6180	Chr1:34116308-34116326 (+)	169,011 bp
Tssr6181	Chr1:34116361-34116371 (+)	169,060 bp
Tssr6182	Chr1:34116375-34116383 (+)	169,073 bp
Tssr6183	Chr1:34128345-34128360 (+)	181,047 bp
Tssr6184	Chr1:34128364-34128377 (+)	181,065 bp
Tssr6185	Chr1:34136346-34136375 (+)	189,055 bp
Tssr6186	Chr1:34138819-34138821 (+)	191,514 bp
Tssr6187	Chr1:34160255-34160268 (+)	212,956 bp
Tssr6188	Chr1:34160331-34160369 (+)	213,044 bp
Tssr6189	Chr1:34160418-34160429 (+)	213,118 bp
Tssr34	Chr1:34160444-34160453 (+)	213,143 bp
Tssr6190	Chr1:34160484-34160506 (+)	213,189 bp
Tssr6191	Chr1:34160522-34160539 (+)	213,225 bp
Tssr6192	Chr1:34160550-34160565 (+)	213,252 bp
Tssr6193	Chr1:34163700-34163711 (+)	216,400 bp
Tssr6194	Chr1:34199229-34199242 (+)	251,930 bp
Tssr6195	Chr1:34199335-34199352 (+)	252,038 bp
Tssr6196	Chr1:34210193-34210230 (+)	262,906 bp
Tssr6197	Chr1:34223188-34223193 (+)	275,885 bp
Tssr6198	Chr1:34225950-34225962 (+)	278,650 bp
Tssr6199	Chr1:34226877-34226889 (+)	279,577 bp
Tssr6200	Chr1:34226956-34226960 (+)	279,652 bp
Tssr6201	Chr1:34236320-34236335 (+)	289,022 bp
Tssr6202	Chr1:34252025-34252075 (+)	304,744 bp
Tssr6203	Chr1:34254365-34254379 (+)	307,066 bp
Tssr6204	Chr1:34254382-34254394 (+)	307,082 bp
Tssr6205	Chr1:34254405-34254413 (+)	307,103 bp
Tssr6206	Chr1:34266994-34267005 (+)	319,694 bp
Tssr6212	Chr1:34346849-34346864 (+)	399,551 bp
Tssr6213	Chr1:34347010-34347023 (+)	399,711 bp