DST (dystonin)

2003-08-01  

Identity

HGNC
DST
LOCATION
6p12.1
LOCUSID
667
ALIAS
BP240,BPA,BPAG1,CATX-15,CATX15,D6S1101,DMH,DT,EBSB2,HSAN6,MACF2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 667
MIM: 113810
HGNC: 1090
Ensembl: ENSG00000151914

Variants:

dbSNP: 667
ClinVar: 667
TCGA: ENSG00000151914
COSMIC: DST

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151914ENST00000244364Q03001
ENSG00000151914ENST00000312431F6QMI7
ENSG00000151914ENST00000340834A0A0U1RQJ2
ENSG00000151914ENST00000361203F8W9J4
ENSG00000151914ENST00000370765Q03001
ENSG00000151914ENST00000370788Q03001
ENSG00000151914ENST00000421834E9PHM6
ENSG00000151914ENST00000439203Q03001
ENSG00000151914ENST00000449297Q5T0V7
ENSG00000151914ENST00000518398H0YC82
ENSG00000151914ENST00000518935Q6P0N6
ENSG00000151914ENST00000520645E7ETB9
ENSG00000151914ENST00000522360H0YAT7
ENSG00000151914ENST00000523292H0YC65
ENSG00000151914ENST00000523817E7ERX3
ENSG00000151914ENST00000523943H0YBX0
ENSG00000151914ENST00000651289A0A494C1U5
ENSG00000151914ENST00000651790A0A494C073
ENSG00000151914ENST00000652573A0A494C1D7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Type I hemidesmosome assemblyREACTOMER-HSA-446107
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
194036922009BPAG1e maintains keratinocyte polarity through beta4 integrin-mediated modulation of Rac1 and cofilin activities.32
225224462012Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.31
232697942013Herpesvirus tegument protein pUL37 interacts with dystonin/BPAG1 to promote capsid transport on microtubules during egress.31
171614232007Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily.26
201648462010A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.22
239038492013Dystonin/BPAG1 promotes plus-end-directed transport of herpes simplex virus 1 capsids on microtubules during entry.19
246758082014Expression microarray analysis reveals alternative splicing of LAMA3 and DST genes in head and neck squamous cell carcinoma.16
179208182008Serum levels of IgE anti-BP180 and anti-BP230 autoantibodies in patients with bullous pemphigoid.14
229958712012Calcium tips the balance: a microtubule plus end to lattice binding switch operates in the carboxyl terminus of BPAG1n4.14

Citation

Dessen P

DST (dystonin)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/826/dst