SYT2 - synaptotagmin 2 Gene

Homo sapiens

Also known as CMS7; CMS7A; CMS7B; MYSPC; SytII

Gene ID: 127833 | Gene type: protein coding

About SYT2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:202,590,596-202,710,454 (from NCBI)

This gene has 2 transcripts (splice variants), 268 orthologues, 31 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 1.4), adrenal (RPKM 1.3) and 17 other tissues.

Summary

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]

SYT2 Products(2)

mRNA	Protein	Name
NM_001136504.1	NP_001129976.1	synaptotagmin-2
NM_177402.5	NP_796376.2	synaptotagmin-2

SYT2 Protein Structure

0
100
200
300
419 a.a.

Protein Preferred Names

Protein Names

synaptotagmin-2

synaptotagmin II

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 7a, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant

CMS7A	Myasthenic Syndrome, Presynaptic, Congenital, With Or Without Motor Neuropathy
Myspc

Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive

CMS7B

Congenital Myasthenic Syndrome 7

Cms7	Congenital Myasthenic Syndrome 7 Presynaptic
Myasthenic Syndrome, Congenital, Type 7, Presynaptic

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome	Eaton-Lambert Syndrome
Lems	Lambert Eaton Myasthenic Syndrome
Eaton Lambert Syndrome	Lambert Eaton Syndrome
Myasthenic Syndrome Of Lambert-Eaton	Myasthenic-Myopathic Syndrome Of Lambert-Eaton
Lems - [Lambert-Eaton Myasthenic Syndrome]

Foodborne Botulism

Botulism	Botulism Poisoning
Intoxication With Clostridium Botulinum Toxin	Wound Botulism
Food Poisoning Due To Clostridium Botulinum	Infection Due To Clostridium Botulinum
Infant Botulism	Intoxication Botulism
Botulism, Infantile	Clostridium Botulinum Poisoning
Botulism Nos

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Infant Botulism

Infant Intestinal Botulism	Infant Intestinal Toxemia Botulism
Infant Intestinal Toxin-Mediated Botulism	Infantile Botulism
Botulism, Infantile

Intestinal Botulism

Intestinal Colonization Botulism	Intestinal Toxemia Botulism
Intestinal Toxin-Mediated Botulism

Wound Botulism

Cutaneous Infectious Botulism	Cutaneous Toxin-Mediated Botulism
Inoculation Botulism	Skin Infectious Botulism
Skin Toxin-Mediated Botulism

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency	Congenital Myasthenic Syndrome 5
CMS5	Ead
Engel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Engel Type
Cms Ic	Congenital Myasthenic Syndrome Type Ic
Congenital Myasthenic Syndrome Type Ic, Formerly	Cms1c, Formerly
Cms Ic, Formerly	Congenital Myasthenic Syndrome Engel Type
End Plate Acetylcholinesterase Deficiency	Synaptic Congenital Myasthenic Syndromes
Cms1c	Cmse
Congenital Myasthenic Syndrome Type 1c	End-Plate Acetylcholinesterase Deficiency
Myasthenic Syndrome, Congenital, Type 5

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14114	SYT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SYT2	MGD	MGI:99666
Rattus norvegicus	SYT2	RGD	RGD:3804
Felis catus	SYT2	VGNC	VGNC:65898
Bos taurus	SYT2	VGNC	VGNC:35541
Macaca mulatta	SYT2	VGNC	VGNC:78075

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