SIRT2
sirtuin 2
Summary
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2015 | 19:39,369,369 | T/G | upstream gene variant | benign |
| rs2241703 | 19:39,369,514 | G/A | upstream gene variant | — |
| rs45592833 | 19:39,369,635 | G/T | upstream gene variant | — |
| rs202127838 | 19:39,369,830 | C/T | — | uncertain significance |
| rs113734329 | 19:39,369,847 | G/A | — | uncertain significance |
| rs142522547 | 19:39,369,891 | C/T | — | benign |
| rs2513444915 | 19:39,369,904 | G/C | — | uncertain significance |
| rs199855116 | 19:39,369,929 | G/A | — | uncertain significance |
| rs147134890 | 19:39,369,935 | G/T | — | benign |
| rs1012161488 | 19:39,370,124 | C/T | — | uncertain significance |
| rs1449894424 | 19:39,370,296 | T/A | — | uncertain significance |
| rs760819880 | 19:39,370,339 | C/A | — | uncertain significance |
| rs766521494 | 19:39,370,341 | G/A | — | uncertain significance |
| rs201431198 | 19:39,371,353 | A/G | — | uncertain significance |
| rs983778630 | 19:39,371,746 | C/T | — | uncertain significance |
| rs199730724 | 19:39,371,762 | C/T | — | uncertain significance |
| rs201284980 | 19:39,371,765 | G/A | — | uncertain significance |
| rs1308975164 | 19:39,371,780 | C/T | — | uncertain significance |
| rs199824317 | 19:39,371,790 | C/T | — | uncertain significance |
| rs1973140222 | 19:39,371,793 | T/C | — | uncertain significance |
| rs142022596 | 19:39,372,110 | G/A | — | uncertain significance |
| rs34321258 | 19:39,374,306 | C/T | — | benign |
| rs201307475 | 19:39,374,345 | C/G | — | uncertain significance |
| rs74490433 | 19:39,374,369 | C/T | — | uncertain significance |
| rs756233396 | 19:39,374,377 | C/T | — | uncertain significance |
| rs144373891 | 19:39,379,770 | C/T | — | benign |
| rs755684272 | 19:39,380,342 | G/A | — | uncertain significance |
| rs769837989 | 19:39,380,365 | G/A | — | likely benign |
| rs779149028 | 19:39,380,551 | G/T | — | uncertain significance |
| rs76265208 | 19:39,380,566 | C/T | — | uncertain significance |
| rs769376141 | 19:39,380,581 | G/A | — | uncertain significance |
| rs2513467893 | 19:39,380,598 | G/C | — | uncertain significance |
| rs143528673 | 19:39,380,752 | T/A | — | uncertain significance |
| rs2873703 | 19:39,383,509 | C/T | intron variant | — |
| rs200520235 | 19:39,384,056 | C/T | — | uncertain significance |
| rs201911244 | 19:39,384,074 | C/T | — | uncertain significance |
| rs199676461 | 19:39,384,075 | G/A | — | uncertain significance |
| rs139357839 | 19:39,384,110 | C/T | — | uncertain significance |
| rs45535036 | 19:39,384,148 | T/A | — | benign |
| rs1019096585 | 19:39,384,480 | C/A | — | uncertain significance |
| rs4801933 | 19:39,385,298 | C/G | — | — |
| rs10410544 | 19:39,385,532 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.