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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 (Synapsin III) is a Protein Coding gene. Diseases associated with SYN3 include Aland Island Eye Disease and Seizure Disorder. Among its related pathways are Synaptic vesicle cycle and Neurotransmitter Release Cycle. An important paralog of this gene is SYN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005524 | ATP binding | TAS | 15217342 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008021 | synaptic vesicle | IEA,TAS | 9539796 |
GO:0014069 | postsynaptic density | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO:0030672 | synaptic vesicle membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neurotransmitter Release Cycle | ||
2 | Transmission across Chemical Synapses |
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3 | Synaptic vesicle cycle |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007269 | neurotransmitter secretion | IEA,IBA | 21873635 |
GO:0032228 | regulation of synaptic transmission, GABAergic | TAS | 15217342 |
GO:0097091 | synaptic vesicle clustering | IEA | -- |
GO:0099504 | synaptic vesicle cycle | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SYN3 30 |
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Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
SYN3 30 |
|
||||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | SYN3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Syn3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Syn3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SYN3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | SYN3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SYN3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | syn3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | syn3-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SYN3 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Syn 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003318 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | snn-1 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
837921 | Uncertain Significance: not provided | 32,802,014(-) |
C/T NM_003490.4(SYN3):c.711+62901G>A |
MISSENSE_VARIANT,INTRON | |
843268 | Pathogenic: Retinal dystrophy; not provided | 32,802,114(-) |
C/G NM_003490.4(SYN3):c.711+62801G>C |
MISSENSE_VARIANT,INTRON | |
847790 | Uncertain Significance: not provided | 32,859,298(-) |
G/A NM_003490.4(SYN3):c.711+5617C>T |
MISSENSE_VARIANT,INTRON | |
848924 | Uncertain Significance: not provided | 32,859,258(-) |
G/A NM_003490.4(SYN3):c.711+5657C>T |
MISSENSE_VARIANT,INTRON | |
854976 | Uncertain Significance: not provided | 32,858,096(-) |
C/T NM_003490.4(SYN3):c.711+6819G>A |
SYNONYMOUS_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
aland island eye disease |
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seizure disorder |
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sorsby fundus dystrophy |
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fundus dystrophy, pseudoinflammatory, recessive form |
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congenital muscular dystrophy-dystroglycanopathy type a6 |
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