SYN3 - synapsin III Gene

Homo sapiens

Gene ID: 8224 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Synapsin_N

Synapsin

Synapsin_C

0
100
200
300
400
500
580 a.a.

Protein Preferred Names

Protein Names

synapsin-3

cN28H9.2 (synapsin III)

Related Diseases

Diseases

Alias

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14081	SYN3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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