SYN3
synapsin III
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]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1056484 | 22:32,908,738 | T/G | — | — |
| rs780180915 | 22:32,909,720 | G/A | — | uncertain significance |
| rs2544697669 | 22:32,909,743 | T/G | — | uncertain significance |
| rs774545897 | 22:32,909,755 | G/T | — | uncertain significance |
| rs141288673 | 22:32,914,067 | C/G | — | benign |
| rs574127377 | 22:32,914,093 | C/A | — | uncertain significance |
| rs751455464 | 22:32,914,172 | C/T | — | uncertain significance |
| rs140962261 | 22:32,914,209 | C/A | — | likely benign |
| rs781309940 | 22:32,914,220 | C/G | — | uncertain significance |
| rs150768274 | 22:32,914,312 | C/T | — | likely benign |
| rs182576189 | 22:32,923,909 | C/T | — | likely benign |
| rs201577025 | 22:32,923,920 | G/A | — | uncertain significance |
| rs483352708 | 22:32,923,973 | G/A | — | uncertain significance |
| rs745749577 | 22:32,924,883 | G/A | — | likely benign |
| rs138034081 | 22:32,924,939 | C/T | — | likely benign |
| rs115815765 | 22:32,928,171 | C/T | regulatory region variant | — |
| rs772406281 | 22:32,929,802 | C/T | — | uncertain significance |
| rs2544807635 | 22:32,934,035 | C/T | — | uncertain significance |
| rs371435439 | 22:32,937,575 | G/T | — | uncertain significance |
| rs200361200 | 22:32,937,633 | C/T | — | uncertain significance |
| rs769827986 | 22:32,937,645 | C/T | — | likely benign |
| rs757382879 | 22:32,937,657 | C/T | — | likely benign |
| rs1031636656 | 22:32,937,659 | C/T | — | uncertain significance |
| rs2710383 | 22:32,950,969 | G/A | — | — |
| rs138588064 | 22:32,956,040 | C/G | intron variant | — |
| rs139005191 | 22:32,992,674 | C/T | — | uncertain significance |
| rs5998557 | 22:33,007,038 | G/A | — | — |
| rs553809711 | 22:33,009,404 | C/T | — | — |
| rs3827336 | 22:33,020,998 | C/A | — | — |
| rs4373007 | 22:33,046,536 | C/G | regulatory region variant | — |
| rs3788470 | 22:33,047,011 | T/A | — | — |
| rs5754190 | 22:33,050,466 | C/T | intron variant | — |
| rs2413140 | 22:33,051,132 | T/C | — | — |
| rs2413141 | 22:33,051,198 | A/C | — | — |
| rs4820087 | 22:33,055,555 | T/C | — | — |
| rs4821083 | 22:33,056,341 | T/C | — | — |
| rs2413143 | 22:33,056,859 | C/T | — | — |
| rs5749481 | 22:33,058,602 | G/C | — | — |
| rs5749482 | 22:33,059,665 | G/C | — | — |
| rs111710961 | 22:33,060,844 | C/G | — | — |
| rs10854622 | 22:33,061,140 | C/T | — | — |
| rs2740991 | 22:33,063,742 | G/A | — | — |
| rs718810 | 22:33,077,216 | G/A | — | — |
| rs9621532 | 22:33,084,511 | A/T | — | — |
| rs756481 | 22:33,105,227 | A/G | regulatory region variant | — |
| rs743744 | 22:33,116,669 | C/A | — | — |
| rs5754252 | 22:33,153,314 | G/C | — | — |
| rs73156468 | 22:33,156,343 | G/T | intron variant | — |
| rs4821097 | 22:33,159,092 | A/C | — | — |
| rs4821098 | 22:33,159,256 | T/C | intron variant | — |
| rs5754256 | 22:33,159,962 | C/G | — | — |
| rs4820093 | 22:33,160,208 | T/A | — | — |
| rs2097326 | 22:33,165,020 | G/C | — | — |
| rs549884761 | 22:33,166,530 | G/T | — | — |
| rs8142758 | 22:33,174,766 | T/G | upstream gene variant | — |
| rs130545 | 22:33,178,302 | C/T | upstream gene variant | — |
| rs535796343 | 22:33,181,796 | C/G | — | — |
| rs551556869 | 22:33,182,004 | G/C | — | — |
| rs1962223 | 22:33,193,905 | G/C | upstream gene variant | — |
| rs2545918497 | 22:33,260,967 | G/A | — | uncertain significance |
| rs749644098 | 22:33,260,970 | A/T | — | uncertain significance |
| rs760703048 | 22:33,264,991 | G/A | — | uncertain significance |
| rs141052820 | 22:33,265,045 | A/G | — | uncertain significance |
| rs751463668 | 22:33,265,048 | C/T | — | uncertain significance |
| rs779627789 | 22:33,265,090 | T/C | — | uncertain significance |
| rs186662188 | 22:33,268,374 | G/C | intron variant | — |
| rs4450 | 22:33,278,904 | A/C | — | — |
| rs4452 | 22:33,283,257 | T/C | regulatory region variant | — |
| rs9619316 | 22:33,288,694 | C/T | intron variant | — |
| rs557700250 | 22:33,295,659 | G/A | — | — |
| rs545564660 | 22:33,327,379 | C/T | — | uncertain significance |
| rs200324473 | 22:33,327,400 | C/T | — | likely benign |
| rs371390738 | 22:33,327,465 | G/A | — | uncertain significance |
| rs191004066 | 22:33,342,861 | C/G | intron variant | — |
| rs531286282 | 22:33,369,765 | G/C | — | — |
| rs184033867 | 22:33,376,632 | G/T | — | uncertain significance |
| rs149276355 | 22:33,376,644 | T/C | — | uncertain significance |
| rs1184432889 | 22:33,376,673 | T/C | — | uncertain significance |
| rs139195638 | 22:33,401,341 | T/C | intron variant | — |
| rs746837646 | 22:33,402,359 | T/C | — | uncertain significance |
| rs376715828 | 22:33,402,394 | G/A | — | uncertain significance |
| rs141682186 | 22:33,402,504 | C/A | — | benign |
| rs147984631 | 22:33,402,516 | G/A | — | benign |
| rs112551420 | 22:33,402,580 | G/T | — | uncertain significance |
| rs750613435 | 22:33,402,634 | C/A | — | uncertain significance |
| rs369941129 | 22:33,402,644 | T/C | — | uncertain significance |
| rs133945 | 22:33,402,843 | C/T | regulatory region variant | — |
| rs133946 | 22:33,403,278 | G/C | intron variant | — |
| rs185067588 | 22:33,453,074 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.