SYN3 - synapsin III Gene
Species: Homo sapiens
About SYN3
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 N-terminal (1 - 31)
Synapsin: Synapsin, N-terminal domain (89 - 191)
Synapsin_C: Synapsin, ATP binding domain (193 - 395)
- 0
- 100
- 200
- 300
- 400
- 500
- 580 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
synapsin-3 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sorsby Fundus Dystrophy |
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| Fundus Dystrophy |
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| Arteriovenous Malformations Of The Brain |
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| Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders |
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| Persian Gulf Syndrome |
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
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| Schizophrenia |
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| Hypothyroidism, Congenital, Nongoitrous, 4 |
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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 |
| Others | SYN3 | NCBI |