ESYT2

Chr 7

extended synaptotagmin 2

Also known as: CHR2SYT, E-Syt2, FAM62B

NCBI Gene: 57488 ENSG00000117868 UniProt: A0FGR8 OMIM: 616691

The ESYT2 protein tethers the endoplasmic reticulum to the plasma membrane and binds glycerophospholipids, facilitating cellular lipid transport and FGF receptor internalization. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and brain atrophy. This gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including identical protein binding activity; phosphatidylinositol binding activity; and phospholipid binding activity. Predicted to be involved in endocytosis; endoplasmic reticulum-plasma membrane tethering; and lipid transport. Located in cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

Multiple*

Mechanism· predicted