SYN2
From Wikipedia, the free encyclopedia
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Synapsin II
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| PDB rendering based on 1i7l. | ||||||||||||||
| Available structures: 1i7l, 1i7n | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | SYN2; SYNII; SYNIIa; SYNIIb | |||||||||||||
| External IDs | OMIM: 600755 MGI: 103020 HomoloGene: 49348 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 6854 | 20965 | ||||||||||||
| Ensembl | ENSG00000157152 | ENSMUSG00000009394 | ||||||||||||
| Uniprot | Q92777 | Q8CE19 | ||||||||||||
| Refseq | NM_003178 (mRNA) NP_003169 (protein) |
NM_013681 (mRNA) NP_038709 (protein) |
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| Location | Chr 3: 12.02 - 12.21 Mb | Chr 6: 115.1 - 115.25 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Synapsin II, also known as SYN2, is a human gene.[1]
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. The TIMP4 gene is located within an intron of this gene and is transcribed in the opposite direction. Mutations in this gene may be associated with abnormal presynaptic function and schizophrenia. Alternative splicing of this gene results in two transcripts.[1]
[edit] References
[edit] Further reading
- Südhof TC, Czernik AJ, Kao HT, et al. (1989). "Synapsins: mosaics of shared and individual domains in a family of synaptic vesicle phosphoproteins.". Science 245 (4925): 1474-80. PMID 2506642.
- Greengard P, Valtorta F, Czernik AJ, Benfenati F (1993). "Synaptic vesicle phosphoproteins and regulation of synaptic function.". Science 259 (5096): 780-5. PMID 8430330.
- Petersohn D, Schoch S, Brinkmann DR, Thiel G (1995). "The human synapsin II gene promoter. Possible role for the transcription factor zif268/egr-1, polyoma enhancer activator 3, and AP2.". J. Biol. Chem. 270 (41): 24361-9. PMID 7592648.
- Li L, Chin LS, Greengard P, et al. (1996). "Localization of the synapsin II (SYN2) gene to human chromosome 3 and mouse chromosome 6.". Genomics 28 (2): 365-6. doi:. PMID 8530057.
- Xie Y (1996). "Cloning and sequencing analysis of a human synapsin IIb-encoding brain cDNA.". Gene 173 (2): 289-90. PMID 8964517.
- Hosaka M, Südhof TC (1998). "Synapsins I and II are ATP-binding proteins with differential Ca2+ regulation.". J. Biol. Chem. 273 (3): 1425-9. PMID 9430678.
- Witke W, Podtelejnikov AV, Di Nardo A, et al. (1998). "In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly.". EMBO J. 17 (4): 967-76. doi:. PMID 9463375.
- Hosaka M, Südhof TC (1999). "Homo- and heterodimerization of synapsins.". J. Biol. Chem. 274 (24): 16747-53. PMID 10358015.
- Porton B, Kao HT, Greengard P (2000). "Cloning of cDNAs encoding human synapsins IIa and IIb.". DNA Seq. 10 (1): 49-54. PMID 10565545.
- Hosaka M, Hammer RE, Südhof TC (1999). "A phospho-switch controls the dynamic association of synapsins with synaptic vesicles.". Neuron 24 (2): 377-87. PMID 10571231.
- Kao HT, Porton B, Hilfiker S, et al. (2000). "Molecular evolution of the synapsin gene family.". J. Exp. Zool. 285 (4): 360-77. PMID 10578110.
- Spielhaupter C, Schätzl HM (2002). "PrPC directly interacts with proteins involved in signaling pathways.". J. Biol. Chem. 276 (48): 44604-12. doi:. PMID 11571277.
- Jaffrey SR, Benfenati F, Snowman AM, et al. (2002). "Neuronal nitric-oxide synthase localization mediated by a ternary complex with synapsin and CAPON.". Proc. Natl. Acad. Sci. U.S.A. 99 (5): 3199-204. doi:. PMID 11867766.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:. PMID 14702039.
- Chen Q, He G, Wang XY, et al. (2004). "Positive association between synapsin II and schizophrenia.". Biol. Psychiatry 56 (3): 177-81. doi:. PMID 15271586.
- Chen Q, He G, Qin W, et al. (2005). "Family-based association study of synapsin II and schizophrenia.". Am. J. Hum. Genet. 75 (5): 873-7. doi:. PMID 15449241.

