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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
synaptotagmin 14MIM:610949Ensembl:ENSG00000143469HGNC:HGNC:23143PA1348876891q32.2

GO terms in SYT14


Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0016021integral component of membrane
BPIBAGO:0006906vesicle fusion
BPIBAGO:0016079synaptic vesicle exocytosis
BPIBAGO:0017158regulation of calcium ion-dependent exocytosis
BPIBAGO:0048791calcium ion-regulated exocytosis of neurotransmitter
MFIBAGO:0019905syntaxin binding
MFIBAGO:0030276clathrin binding

Gene expression in normal tissue: SYT14

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SYT14


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD30917AAG2
iGMDRD536PLX-47201

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SYT14

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