Dst MGI Mouse Gene Detail - MGI:104627

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
Alliance

gene page
Transcription Start Sites

24 TSS

Sequence Map

Chr1:33908225-34308661 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 12.91 cM
Mapping Data

11 experiments

SNPs within 2kb

3625 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104627	protein coding gene	Chr1:33908213-34308662 (+)
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 (+)

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

HGNC:1090

NCBI Gene ID: 667

neXtProt AC: NX_Q03001

UniProt: Q03001
Chr Location

6p12.1; chr6:56457987-56954671 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 136716
1 mouse;1 rat;1 chimpanzee;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: DST
Gene Tree

Dst

Diseases

2 with Dst mouse models; 2 with human DST associations

Human Disease

Mouse Models

hereditary sensory and autonomic neuropathy type 6

IDs

View 1 model

hereditary sensory neuropathy

IDs

View 1 model

epidermolysis bullosa simplex

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

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Phenotype Summary

94 phenotypes from 23 alleles in 27 genetic backgrounds
1 images
92 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

302
Chemically induced (ENU)

6
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

271
Spontaneous

16
Targeted

4
Transgenic

1
Genomic Mutations

1 involving Dst
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

175 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.

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All GO Annotations

60
GO References

17

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

114
Tissues

61
cDNA Data

35
Literature Summary

21

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dst

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Dst interacts with 444 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

178
RefSeq

68
UniProt

15
CCDS

CCDS35534.1, CCDS35535.1, CCDS69874.1, CCDS69875.1

Ensembl

ENSMUSG00000026131 (Evidence)
NCBI Gene

13518

			Length	Strain/Species	Flank
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

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UniProt

15 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

IPR029926 Dystonin-like

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR003108 GAR domain

IPR036534 GAR domain superfamily

IPR035915 Plakin repeat superfamily

IPR001101 Plectin repeat

IPR001452 SH3 domain

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat

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All nucleic 49

Genomic 4

cDNA 43

Other 2

Microarray probesets 5

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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

Summaries

All 158

Developmental Gene Expression 21

Diseases 2

Gene Ontology 17

Phenotypes 92
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:266479 Lynch-Godrei A, et al., Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. Hum Mol Genet. 2018 Oct 15;27(20):3598-3611

TSS for Dst:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6156	Chr1:33907864-33907949 (+)	-318 bp
Tssr6157	Chr1:33908020-33908065 (+)	-182 bp
Tssr6158	Chr1:33908077-33908090 (+)	-141 bp
Tssr6159	Chr1:33908172-33908184 (+)	-47 bp
Tssr6167	Chr1:34005872-34005908 (+)	97,665 bp
Tssr6168	Chr1:34005918-34005943 (+)	97,706 bp
Tssr6171	Chr1:34011550-34011559 (+)	103,330 bp
Tssr6172	Chr1:34011564-34011602 (+)	103,358 bp
Tssr6183	Chr1:34089264-34089279 (+)	181,047 bp
Tssr6184	Chr1:34089283-34089296 (+)	181,065 bp
Tssr6187	Chr1:34121174-34121187 (+)	212,956 bp
Tssr6188	Chr1:34121250-34121288 (+)	213,044 bp
Tssr6189	Chr1:34121337-34121348 (+)	213,118 bp
Tssr34	Chr1:34121363-34121372 (+)	213,143 bp
Tssr6190	Chr1:34121403-34121425 (+)	213,189 bp
Tssr6191	Chr1:34121441-34121458 (+)	213,225 bp
Tssr6192	Chr1:34121469-34121484 (+)	213,252 bp
Tssr6194	Chr1:34160148-34160161 (+)	251,930 bp
Tssr6195	Chr1:34160254-34160271 (+)	252,038 bp
Tssr6203	Chr1:34215284-34215298 (+)	307,066 bp
Tssr6204	Chr1:34215301-34215313 (+)	307,082 bp
Tssr6205	Chr1:34215324-34215332 (+)	307,103 bp
Tssr6212	Chr1:34307768-34307783 (+)	399,551 bp
Tssr6213	Chr1:34307929-34307942 (+)	399,711 bp

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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