1. Gene
  2. SYN2 - synapsin II Gene

SYN2 - synapsin II Gene

中文名称:突触素 II

种属: Homo sapiens

同用名: SYNII

基因 ID: 6854 | 基因类型: protein coding

关于 SYN2

Cytogenetic location: 3p25.2 Genomic coordinates (GRCh38): 3:12,004,388-12,192,032 (from NCBI)

This gene has 6 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 41.0) and fat (RPKM 5.3).

功能概要

该基因是突触蛋白基因家族的成员。突触蛋白编码与突触小泡的细胞质表面相关的神经元磷蛋白。家族成员的特征是共同的蛋白质结构域,它们与突触发生和神经递质释放的调节有关,表明它们在多种神经精神疾病中具有潜在作用。突触蛋白家族的这个成员编码一种神经元特异性磷蛋白,它选择性地结合突触前神经末梢的小突触囊泡。该基因的多态性与异常的突触前功能和相关的神经元疾病有关,包括自闭症、癫痫、双相情感障碍和精神分裂症。该基因的可变剪接导致多个转录变体。金属蛋白酶 4 基因的组织抑制剂位于该基因的一个内含子内,并以相反的方向转录。[RefSeq 提供,2014 年 2 月]

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]

SYN2 基因产物(2)

mRNA Protein Name
NM_003178.6 NP_003169.2 synapsin-2 isoform IIb
NM_133625.6 NP_598328.1 synapsin-2 isoform IIa
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
23406870 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
蛋白主名 其他名称

synapsin-2

SYN2 抗体

目录号 产品名 应用 反应物种
HY-P82153 Synapsin 2 Antibody (YA1898) WB, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders

X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome

EPILX

X-Linked Epilepsy With Variable Learning Disabilities And Behavior Disorders

Epilepsy, X-Linked, With Reflex Bathing Seizures

Bathing Epilepsy, X-Linked

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

Persian Gulf Syndrome

Gulf War Syndrome

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Schizoaffective Disorder

Schizo-Affective Psychosis

Schizo-Affective Type Schizophrenia

Schizoaffective Psychosis

Schizoaffective Schizophrenia

Schizophrenia, Schizo-Affective Type

Schizophreniform Psychosis, Affective Type

Methemoglobinemia And Ambiguous Genitalia

METAG

Methemoglobinemia Type Iv

Isolated 17,20-Lyase Deficiency, Pure

Methemoglobinemia Due To Deficiency Of Cytochrome B5

Methemoglobinemia Type 4

Methemoglobinemia Type Iv, Formerly

Methemoglobinemia Due To Deficiency Of Cytochrome B5, Formerly

Pure Isolated 17,20-Lyase Deficiency

Methemoglobinemia, Type Iv

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
Macaca mulatta SYN2 VGNC VGNC:78065
Canis familiaris SYN2 VGNC VGNC:54371
Rattus norvegicus SYN2 RGD RGD:3798
Felis catus SYN2 VGNC VGNC:65879
Mus musculus SYN2 MGD MGI:103020
Bos taurus SYN2 VGNC VGNC:35515