Gene Function

Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes Source: UniProt

Relationship to CMT

Unclassified AD
1 subtype
1q32.1

First described 2014

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT-SYT2	Inheritanceautosomal dominant	ClassUnclassified Subtypes	OMIMn/a	Sentinel Publication Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy 2014 · 10.10CHCHD1016/j.ajhg.2014.08.007

Stored Identifiers

No HGNC Aliases

hgnc_idHGNC:11510

ensembl_gene_idENSG00000143858

coords_grch38chr1:202590596-202710526

coords_grch37chr1:202559724-202679545

entrez_id127833

omim_gene600104

uniprot_idsQ8N9I0

refseq_accessionNM_177402

mane_refseqNM_177402.5

mane_ensemblENST00000367268.5

External recordsHGNC:11510OMIM 600104gnomADUniProt Q8N9I0ClinGenClinVar P/LPOrphanetMANE NM_177402.5GENESIS discovery

EvidenceClinGen Moderate congenital myasthenic syndrome 7PanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in SYT2, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

A Name That Does Too Much Work

Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.

When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.