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SYT2

This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Oligodendrocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (AF22, NTERA-2)

Interaction

Homotetramer (Probable). Interacts with STON2 (PubMed:11381094). Interacts with SCAMP5 (PubMed:19234194). Interacts with PRRT2 (By similarity).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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