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SYT2 - synaptotagmin 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 127833

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
400
419 a.a.

Protein Preferred Names	Protein Names
synaptotagmin-2	synaptotagmin II

SYT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SYT2	Q8N9I0	TMEM229B	Homo sapiens	Q8NBD8	Validated Y2H	32296183
Intra	SYT2	Q8N9I0	TMEM229B	Homo sapiens	Q8NBD8	Y2H Prey Pooling	32296183
Intra	SYT2	Q8N9I0	SLC35A4	Homo sapiens	Q96G79	Validated Y2H	32296183
Intra	SYT2	Q8N9I0	AQP10	Homo sapiens	Q96PS8	Validated Y2H	32296183
Intra	SYT2	Q8N9I0	NAPB	Homo sapiens	Q9H115	Validated Y2H	32296183
Intra	SYT2	Q8N9I0	SYT1	Homo sapiens	P21579	Anti Tag CoIP	33961781
Intra	SYT2	Q8N9I0	FUNDC2	Homo sapiens	Q9BWH2	Validated Y2H	32296183
Intra	SYT2	Q8N9I0	CMTM3	Homo sapiens	Q96MX0	Validated Y2H	32296183
Intra	SYT2	Q8N9I0	CCDC167	Homo sapiens	Q9P0B6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS14114	SYT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SYT2	NCBI