Identity
HGNC
LOCATION
6p12.1
LOCUSID
ALIAS
BP240,BPA,BPAG1,CATX-15,CATX15,D6S1101,DMH,DT,EBSB2,HSAN6,MACF2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 667
MIM: 113810
HGNC: 1090
Ensembl: ENSG00000151914
Variants:
dbSNP: 667
ClinVar: 667
TCGA: ENSG00000151914
COSMIC: DST
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36412277 | 2023 | What's new in the pathogeneses and triggering factors of bullous pemphigoid. | 5 |
| 37431644 | 2023 | DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. | 0 |
| 38465459 | 2023 | The DST gene in neurobiology. | 0 |
| 36412277 | 2023 | What's new in the pathogeneses and triggering factors of bullous pemphigoid. | 5 |
| 37431644 | 2023 | DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy. | 0 |
| 38465459 | 2023 | The DST gene in neurobiology. | 0 |
| 35276021 | 2022 | Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). | 4 |
| 35276021 | 2022 | Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). | 4 |
| 33471381 | 2021 | Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature. | 3 |
| 34116676 | 2021 | Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma. | 3 |
| 33471381 | 2021 | Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature. | 3 |
| 34116676 | 2021 | Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma. | 3 |
| 30371979 | 2019 | Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI. | 12 |
| 30963337 | 2019 | Dystonin/BPAG1 modulates diabetes and Alzheimer's disease cross-talk: a meta-analysis. | 4 |
| 31006587 | 2019 | Integrin 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
