Gene
syt2a
- ID
- ZDB-GENE-060503-315
- Name
- synaptotagmin IIa
- Symbol
- syt2a Nomenclature History
- Previous Names
-
- si:ch211-236j4.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable SNARE binding activity; calcium ion sensor activity; and calcium-dependent phospholipid binding activity. Predicted to be involved in calcium-dependent activation of synaptic vesicle fusion; regulation of calcium ion-dependent exocytosis; and regulation of synaptic vesicle exocytosis. Predicted to be located in cytoplasmic vesicle; membrane; and synapse. Predicted to be active in axon; plasma membrane; and secretory vesicle. Is expressed in brain; eye; and retina. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome and congenital myasthenic syndrome 7. Orthologous to human SYT2 (synaptotagmin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- 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 myasthenic syndrome 7 | Alliance | Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant | 616040 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 619461 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | Synaptotagmin |
|---|---|---|---|---|
|
UniProtKB:A0A8M2BLD2
|
428 | |||
|
UniProtKB:A0A8M9P5C1
|
364 | |||
|
UniProtKB:F1R5C0
|
430 |
Interactions and Pathways
No data available
Plasmids
No data available