Gene
stac3
- ID
- ZDB-GENE-040801-248
- Name
- SH3 and cysteine rich domain 3
- Symbol
- stac3 Nomenclature History
- Previous Names
-
- zgc:91949 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have metal ion binding activity. Involved in several processes, including T-tubule organization; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; and skeletal muscle tissue development. Predicted to localize to cytosol; extrinsic component of cytoplasmic side of plasma membrane; and voltage-gated calcium channel complex. Used to study Native American myopathy. Human ortholog(s) of this gene implicated in Native American myopathy. Is expressed in adaxial cell; musculature system; and somite. Orthologous to human STAC3 (SH3 and cysteine rich domain 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:91949 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Native American myopathy | Alliance | Congenital myopathy 13 | 255995 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Native American myopathy | stac3mi34/mi34 | control | Linsley et al., 2017 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C1-like domain superfamily | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | SH3 domain | SH3-like domain superfamily | STAC1/2/3 |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6DBR6
|
334 |
Interactions and Pathways
No data available
Plasmids
No data available