ZFIN is now using GRCz12tu for Genomic Data
Gene
dst
- ID
- ZDB-GENE-030131-3399
- Name
- dystonin
- Symbol
- dst Nomenclature History
- Previous Names
-
- bpag1 (1)
- wu:fc38a05
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable actin binding activity; calcium ion binding activity; and microtubule binding activity. Predicted to act upstream of or within intermediate filament cytoskeleton organization. Predicted to be located in cytoplasm; microtubule; and plasma membrane. Is expressed in epidermis. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and hereditary sensory and autonomic neuropathy type 6. Orthologous to human DST (dystonin).
- Genome Resources
-
- Alliance (1)
- Gene:100333215 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Li et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 29 | Alliance | Congenital myopathy 29 with contractures | 621510 |
| epidermolysis bullosa simplex | Alliance | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency | 615425 |
| hereditary sensory and autonomic neuropathy type 6 | Alliance | Neuropathy, hereditary sensory and autonomic, type VI | 614653 |
| lethal congenital contracture syndrome 12 | Alliance | Lethal congenital contracture syndrome 12 | 621511 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance