SYT2 gene

synaptotagmin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Oct 2014]

From UniProt:

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 (PubMed:23999003).

From NCBI Gene:

  • Myasthenic syndrome, congenital, 7, presynaptic

From UniProt:

Myasthenic syndrome, congenital, 7, presynaptic (CMS7): A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes. [MIM:616040]

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1

Molecular Location: base pairs 202,590,596 to 202,710,444 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1
  • CMS7
  • MYSPC
  • SytII