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
- Description
- 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 |
|---|---|---|---|
| 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR003108 | GAR domain |
| Domain | IPR041573 | Desmoplakin, spectrin-like domain |
| Domain | IPR041615 | Desmoplakin, SH3 domain |
| Family | IPR043197 | Plakin |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR035915 | Plakin repeat superfamily |
| Homologous_superfamily | IPR036534 | GAR domain superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR001101 | Plectin repeat |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
| Repeat | IPR049538 | Plectin-like, spectrin-like repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | GAR domain | GAR domain superfamily | Plakin | Plakin repeat superfamily | Plectin-like, spectrin-like repeat | Plectin repeat | SH3 domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0AB32T7G8 | InterPro | 8163 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance