1. Gene
  2. SV2B - synaptic vesicle glycoprotein 2B Gene

SV2B - synaptic vesicle glycoprotein 2B Gene

中文名称:突触小泡糖蛋白 2B

种属: Homo sapiens

同用名: SLC22B2; HsT19680

基因 ID: 9899 | 基因类型: protein coding

关于 SV2B

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:91,099,588-91,302,565 (from NCBI)

This gene has 6 transcripts (splice variants), 268 orthologues and 2 paralogues. Biased expression in brain (RPKM 7.7) and fat (RPKM 1.1).

功能概要

该基因编码突触小泡蛋白 2 (SV2) 家族和主要促进蛋白超家族的成员。这种蛋白质和该家族的其他成员定位于突触小泡,并可能在调节小泡运输和胞吐作用中发挥作用。对小鼠的研究表明,编码的蛋白质可能充当神经元中肉毒杆菌神经毒素 E 的蛋白质受体,并且这种蛋白质可能对肾小球滤过屏障的完整性很重要。该基因在人类颞叶癫痫患者海马体突触缺失区域的表达减少。[RefSeq 提供,2016 年 9 月]

This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and Other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]

SV2B 基因产物(11)

mRNA Protein Name
NM_001167580.3 NP_001161052.1 synaptic vesicle glycoprotein 2B isoform 2
NM_001323031.2 NP_001309960.1 synaptic vesicle glycoprotein 2B isoform 1
NM_001323032.3 NP_001309961.1 synaptic vesicle glycoprotein 2B isoform 1
NM_001323033.3 NP_001309962.1 synaptic vesicle glycoprotein 2B isoform 3
NM_001323034.3 NP_001309963.1 synaptic vesicle glycoprotein 2B isoform 4
NM_001323036.3 NP_001309965.1 synaptic vesicle glycoprotein 2B isoform 5
NM_001323037.3 NP_001309966.1 synaptic vesicle glycoprotein 2B isoform 1
NM_001323038.3 NP_001309967.1 synaptic vesicle glycoprotein 2B isoform 1
NM_001323039.3 NP_001309968.1 synaptic vesicle glycoprotein 2B isoform 1
NM_001323040.3 NP_001309969.1 synaptic vesicle glycoprotein 2B isoform 2
NM_014848.7 NP_055663.1 synaptic vesicle glycoprotein 2B isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SV2B 蛋白结构

Sugar_tr

Sugar_tr: Sugar (and other) transporter (131 - 327)

Pentapeptide_4

Pentapeptide_4: Pentapeptide repeats (9 copies) (456 - 527)

MFS_1

MFS_1: Major Facilitator Superfamily (539 - 677)

  • 0
  • 200
  • 400
  • 600
  • 683 a.a.
蛋白主名 其他名称

synaptic vesicle glycoprotein 2B

solute carrier family 22 member B2

SV2B 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
种属内
SV2B Q7L1I2 HSFY1 Homo sapiens Q96LI6 25416956
种属内
SV2B Q7L1I2 HSFY1 Homo sapiens Q96LI6 25416956
种属内
SV2B Q7L1I2 HSFY1 Homo sapiens Q96LI6 25416956
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
Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Prostate Small Cell Carcinoma

Small Cell Carcinoma Of Prostate

Prostate Oat Cell Carcinoma

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

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus SV2B VGNC VGNC:35495
Rattus norvegicus SV2B RGD RGD:619716
Canis familiaris SV2B VGNC VGNC:47004
Macaca mulatta SV2B VGNC VGNC:78140
Felis catus SV2B VGNC VGNC:65861
Mus musculus SV2B MGD MGI:1927338