ESYT2 Chromosome 7

Extended synaptotagmin 2

1 variant 1 Health Risk

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What This Gene Does

Enables calcium ion binding activity; identical protein binding activity; and phospholipid binding activity. Predicted to be involved in endocytosis; endoplasmic reticulum-plasma membrane tethering; and lipid transport. Located in several cellular components, including cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Extended synaptotagmins

Locus Type

gene with protein product

Location

7q36.3

Ensembl

ENSG00000117868

Key Variants

RS148502320

Conflicting classifications of pathogenicity

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS148502320	Health Risk	Conflicting classifications of pathogenicity	—