SYN2
synapsin II
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. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747241247 | 3:12,046,186 | C/T | — | benign |
| rs541501741 | 3:12,047,501 | T/G | — | — |
| rs307616 | 3:12,059,925 | A/G | intron variant | — |
| rs307606 | 3:12,067,126 | A/G | — | — |
| rs7372989 | 3:12,070,044 | C/T | — | — |
| rs394945 | 3:12,075,117 | T/G | — | — |
| rs307582 | 3:12,085,149 | T/A | — | — |
| rs12629034 | 3:12,097,669 | G/A | — | — |
| rs900138 | 3:12,098,825 | A/G | intron variant | — |
| rs140219161 | 3:12,114,966 | G/A | downstream gene variant | — |
| rs308971 | 3:12,116,620 | G/A | downstream gene variant | — |
| rs2648351 | 3:12,126,877 | A/G | — | — |
| rs307575 | 3:12,127,827 | A/T | — | — |
| rs184262 | 3:12,134,740 | A/T | — | — |
| rs6798755 | 3:12,139,092 | C/G | — | — |
| rs307603 | 3:12,152,097 | T/A | — | — |
| rs528715901 | 3:12,170,000 | C/T | — | — |
| rs71304088 | 3:12,181,133 | T/C | regulatory region variant | — |
| rs308963 | 3:12,181,751 | C/A | — | — |
| rs544852588 | 3:12,182,156 | A/G | — | benign |
| rs548591048 | 3:12,187,198 | G/A | — | uncertain significance |
| rs191537003 | 3:12,187,229 | C/T | — | benign |
| rs768619856 | 3:12,187,259 | T/C | — | uncertain significance |
| rs191863591 | 3:12,189,927 | G/A | regulatory region variant | — |
| rs3773364 | 3:12,189,968 | A/C | — | — |
| rs149250423 | 3:12,191,516 | C/G | downstream gene variant | — |
| rs1319895375 | 3:12,192,773 | G/A | — | uncertain significance |
| rs112277529 | 3:12,192,795 | A/G | — | uncertain significance |
| rs17035945 | 3:12,194,628 | C/T | 3 prime UTR variant | — |
| rs3755724 | 3:12,200,906 | C/T | regulatory region variant | — |
| rs750769489 | 3:12,203,060 | G/T | — | likely benign |
| rs374931810 | 3:12,203,068 | T/G | — | uncertain significance |
| rs777501812 | 3:12,203,525 | A/G | — | uncertain significance |
| rs1064796852 | 3:12,203,579 | C/G | — | uncertain significance |
| rs200532588 | 3:12,203,582 | C/T | — | uncertain significance |
| rs781269513 | 3:12,203,617 | C/T | — | uncertain significance |
| rs11922042 | 3:12,206,489 | T/C | downstream gene variant | — |
| rs795009 | 3:12,208,671 | G/C | — | — |
| rs375170939 | 3:12,208,800 | G/A | — | uncertain significance |
| rs795010 | 3:12,208,995 | T/C | — | — |
| rs369598543 | 3:12,209,916 | G/A | — | uncertain significance |
| rs2470236042 | 3:12,211,407 | G/A | — | uncertain significance |
| rs310753 | 3:12,214,907 | A/G | intron variant | — |
| rs310762 | 3:12,224,151 | T/A | — | — |
| rs367995182 | 3:12,224,866 | C/A | — | uncertain significance |
| rs751232089 | 3:12,224,893 | G/C | — | uncertain significance |
| rs867095259 | 3:12,228,910 | G/T | — | uncertain significance |
| rs372305463 | 3:12,228,925 | C/T | — | uncertain significance |
| rs201537340 | 3:12,228,980 | C/T | — | likely benign |
| rs774987678 | 3:12,228,998 | G/T | — | uncertain significance |
| rs558289553 | 3:12,229,001 | C/T | — | uncertain significance |
| rs794999 | 3:12,229,015 | A/G | — | benign |
| rs748177622 | 3:12,229,021 | G/A | — | uncertain significance |
| rs2470279573 | 3:12,229,084 | C/T | — | uncertain significance |
| rs1661583 | 3:12,230,438 | A/T | — | — |
| rs151063425 | 3:12,231,996 | G/A | — | benign |
| rs372489249 | 3:12,232,015 | T/G | — | uncertain significance |
| rs372633861 | 3:12,232,042 | C/T | — | uncertain significance |
| rs75599326 | 3:12,232,046 | C/G | — | uncertain significance |
| rs310764 | 3:12,232,074 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.