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
364122772023What's new in the pathogeneses and triggering factors of bullous pemphigoid.5
374316442023DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.0
384654592023The DST gene in neurobiology.0
364122772023What's new in the pathogeneses and triggering factors of bullous pemphigoid.5
374316442023DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.0
384654592023The DST gene in neurobiology.0
352760212022Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).4
352760212022Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).4
334713812021Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.3
341166762021Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma.3
334713812021Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.3
341166762021Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma.3
303719792019Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.12
309633372019Dystonin/BPAG1 modulates diabetes and Alzheimer's disease cross-talk: a meta-analysis.4
310065872019Integrin α6β4 Recognition of a Linear Motif of Bullous Pemphigoid Antigen BP230 Controls Its Recruitment to Hemidesmosomes.6

Citation

Dessen P

DST (dystonin)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/826/dst-(dystonin)