SYT14
Summary: This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| synaptotagmin 14 | MIM:610949 | Ensembl:ENSG00000143469 | HGNC:HGNC:23143 | PA134887689 | 1q32.2 |
GO terms in SYT14
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | IBA | GO:0006906 | vesicle fusion |
| BP | IBA | GO:0016079 | synaptic vesicle exocytosis |
| BP | IBA | GO:0017158 | regulation of calcium ion-dependent exocytosis |
| BP | IBA | GO:0048791 | calcium ion-regulated exocytosis of neurotransmitter |
| MF | IBA | GO:0019905 | syntaxin binding |
| MF | IBA | GO:0030276 | clathrin binding |
Gene expression in normal tissue: SYT14
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SYT14
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SYT14
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