SYT4

Chr 18

synaptotagmin 4

Also known as: HsT1192

NCBI Gene: 6860 ENSG00000132872 UniProt: Q9H2B2 OMIM: 600103

Synaptotagmin-4 is a calcium-independent synaptotagmin family member that regulates dense core vesicle transport at synapses through interaction with the motor protein KIF1A and is involved in dendrite formation. Biallelic mutations in SYT4 cause autosomal recessive neurodevelopmental disorder with seizures and absent language, typically presenting in infancy with severe developmental delays and intractable epilepsy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.549), consistent with its role in critical synaptic functions.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable several functions, including calcium ion sensor activity; calcium-dependent phospholipid binding activity; and protein dimerization activity. Involved in negative regulation of catecholamine secretion and positive regulation of dendrite extension. Predicted to be located in neuron projection terminus and secretory vesicle. Predicted to be active in several cellular components, including axon; exocytic vesicle; and synapse. Biomarker of type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Multiple*

Mechanism· predicted