2. Gene
  3. SYN3 - synapsin III Gene

SYN3 - synapsin III Gene

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

中文名称：突触蛋白 III

种属: Homo sapiens

基因 ID: 8224 | 基因类型: protein coding

关于 SYN3

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:32,507,820-33,058,381 (from NCBI)

This gene has 13 transcripts (splice variants), 223 orthologues and 2 paralogues. Biased expression in brain (RPKM 2.3), testis (RPKM 0.7) and 6 other tissues.

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。该基因编码的蛋白质共享突触蛋白家族结构域模型，结构域 A、C 和 E 表现出最高程度的保守性。该蛋白质包含一个独特的结构域 J，位于结构域 C 和 E 之间。基于该基因定位于 22q12.3，可能是精神分裂症易感基因座，以及突触蛋白已确定的神经生物学作用，该家族成员可能代表精神分裂症的候选基因. TIMP3 基因位于该基因的一个内含子内，并以相反的方向转录。该基因的可变剪接导致编码不同亚型的多个剪接变体。[RefSeq 提供，2008 年 10 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. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]

SYN3 基因产物(7)

mRNA Protein Name
NM_001135774.2 NP_001129246.1 synapsin-3 isoform IIIg
NM_001369907.1 NP_001356836.1 synapsin-3 isoform IIIa
NM_001369908.1 NP_001356837.1 synapsin-3 isoform IIIa
NM_001369909.1 NP_001356838.1 synapsin-3 isoform IIIg
NM_001369910.1 NP_001356839.1 synapsin-3 isoform IIIg
NM_003490.4 NP_003481.3 synapsin-3 isoform IIIa
NM_133633.3 NP_598344.2 synapsin-3 isoform IIIc

SYN3 蛋白结构

Synapsin_N

Synapsin_N: Synapsin N-terminal (1 - 31)

Synapsin

Synapsin: Synapsin, N-terminal domain (89 - 191)

Synapsin_C

Synapsin_C: Synapsin, ATP binding domain (193 - 395)

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  • 580 a.a.
蛋白主名 其他名称

synapsin-3

cN28H9.2 (synapsin III)

关联疾病

疾病名称 别名
Sorsby Fundus Dystrophy

SFD

Fundus Dystrophy, Pseudoinflammatory, Of Sorsby

Sorsby'S Fundus Dystrophy

Macular Dystrophy, Hemorrhagic

Hemorrhagic Macular Dystrophy

Pseudoinflammatory Fundus Dystrophy Of Sorsby

Sorsby'S Pseudoinflammatory Macular Dystrophy

Sorsby Pseudoinflammatory Fundus Dystrophy

Dystrophy, Fundus, Sorsby
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation

Intracranial Arteriovenous Malformation

Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

Intracranial Arteriovenous Malformations

Bavm

Cerebral Arteriovenous Malformations

Intracranial Hemorrhage In Brain Cerebrovascular Malformations

Arteriovenous Malformation Of The Brain, Somatic

Intracranial Avm

Arteriovenous Malformations Cerebral
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
Persian Gulf Syndrome

Gulf War Syndrome
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6

Mddga6

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Hypothyroidism, Congenital, Nongoitrous, 4

Tsh Deficiency

CHNG4

Thyrotropin Deficiency, Isolated

Pituitary Cretinism

Congenital Nongoitrous Hypothyroidism 4

Isolated Thyrotropin Deficiency

Thyroid-Stimulating Hormone Deficiency

Hypothyroidism, Congenital, Nongoitrous 4

Thyroid-Stimulating Hormone, Deficiency Of

Isolated Thyroid-Stimulating Hormone Deficiency

Isolated Tsh Deficiency

Hypothyroidism, Congenital, Nongoitrous, Type 4

Secondary Hypothyroidism

Tsh - [Thyroid Stimulating Hormone] Deficiency
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14081 SYN3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-161955 TMV-IN-11 Inhibitor / 否
HY-RS20818 Sdc3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21438 Stx3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SYN3 VGNC VGNC:35516
Rattus norvegicus SYN3 RGD RGD:3799
Mus musculus SYN3 MGD MGI:1351334
Macaca mulatta SYN3 VGNC VGNC:78066
Canis familiaris SYN3 VGNC VGNC:108220
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