Gene
svild
- ID
- ZDB-GENE-081104-483
- Name
- supervillin d
- Symbol
- svild Nomenclature History
- Previous Names
-
- si:dkeyp-94b4.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament severing; actin polymerization or depolymerization; and barbed-end actin filament capping. Predicted to act upstream of or within cytoskeleton organization. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in macula. Human ortholog(s) of this gene implicated in myofibrillar myopathy 10. Orthologous to human SVIL (supervillin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Pollock et al., 2016
- 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 |
|---|---|---|---|
| myofibrillar myopathy 10 | Alliance | Myofibrillar myopathy 10 | 619040 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ADF-H/Gelsolin-like domain superfamily | Gelsolin-like domain | Villin/Gelsolin | Villin headpiece | Villin headpiece domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PWX9
|
1316 | |||||
|
UniProtKB:A0A8M3B4H9
|
1460 | |||||
|
UniProtKB:A0A0R4ICW1
|
1459 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:dkeyp-94b4.1-201
(1)
|
Ensembl | 3,275 nt | ||
| mRNA |
si:dkeyp-94b4.1-203
(1)
|
Ensembl | 908 nt | ||
| mRNA |
svild-202
(1)
|
Ensembl | 5,596 nt | ||
| mRNA |
svild-204
(1)
|
Ensembl | 8,702 nt |
Interactions and Pathways
No data available
Plasmids
No data available