2. Gene
  3. SYT2 - synaptotagmin 2 Gene

SYT2 - synaptotagmin 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：突触结合蛋白 2

种属: Homo sapiens

同用名: CMS7; CMS7A; CMS7B; MYSPC; SytII

基因 ID: 127833 | 基因类型: protein coding

关于 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.

功能概要

该基因编码突触小泡膜蛋白。编码的蛋白质被认为在囊泡运输和胞吐作用中起钙传感器的作用。该基因的突变与肌无力综合征、突触前、先天性、伴有或不伴有运动神经病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 月]

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 基因产物(2)

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

SYT2 蛋白结构

C2

C2: C2 domain (156 - 242)

C2

C2: C2 domain (287 - 374)

  • 0
  • 100
  • 200
  • 300
  • 419 a.a.
蛋白主名 其他名称

synaptotagmin-2

synaptotagmin II

SYT2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14114 SYT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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