PRUNE2
prune homolog 2 with BCH domain
Summary
The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Known Variants230 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376356094 | 9:79,234,272 | A/T | — | uncertain significance |
| rs1564328491 | 9:79,234,284 | C/G | — | uncertain significance |
| rs146685015 | 9:79,235,366 | T/C | intron variant | — |
| rs180939665 | 9:79,244,174 | T/C | — | likely benign |
| rs781546930 | 9:79,252,335 | G/A | — | uncertain significance |
| rs1036619691 | 9:79,252,422 | T/C | — | uncertain significance |
| rs1430240892 | 9:79,253,123 | T/C | — | uncertain significance |
| rs766785631 | 9:79,253,126 | T/C | — | uncertain significance |
| rs202155186 | 9:79,253,138 | C/T | — | uncertain significance |
| rs930853704 | 9:79,253,182 | A/T | — | uncertain significance |
| rs772474129 | 9:79,259,658 | C/T | — | uncertain significance |
| rs80290481 | 9:79,259,672 | C/T | — | uncertain significance |
| rs532759801 | 9:79,259,742 | G/C | — | uncertain significance |
| rs575433786 | 9:79,267,488 | T/C | — | uncertain significance |
| rs1013450299 | 9:79,267,563 | G/C | — | uncertain significance |
| rs145561107 | 9:79,267,629 | G/A | intron variant | — |
| rs201410963 | 9:79,270,368 | A/G | — | uncertain significance |
| rs140756661 | 9:79,270,375 | C/T | — | uncertain significance |
| rs142219686 | 9:79,270,426 | A/C | — | benign |
| rs649252 | 9:79,280,972 | T/C | regulatory region variant | — |
| rs556725 | 9:79,308,693 | T/C | intron variant | — |
| rs594586 | 9:79,314,291 | G/T | — | — |
| rs646698 | 9:79,317,722 | G/A | intron variant | — |
| rs114619409 | 9:79,318,313 | G/A | — | benign |
| rs199684342 | 9:79,318,320 | G/A | — | uncertain significance |
| rs759578369 | 9:79,318,353 | G/C | — | uncertain significance |
| rs41288765 | 9:79,318,402 | C/G | — | benign |
| rs749637669 | 9:79,318,403 | G/A | — | uncertain significance |
| rs945464904 | 9:79,318,461 | C/T | — | uncertain significance |
| rs776863123 | 9:79,318,523 | C/G | — | uncertain significance |
| rs2046077521 | 9:79,318,566 | A/C | — | uncertain significance |
| rs1260103794 | 9:79,318,581 | C/A | — | uncertain significance |
| rs764938299 | 9:79,318,589 | T/A | — | uncertain significance |
| rs142038632 | 9:79,318,670 | G/A | — | uncertain significance |
| rs374821515 | 9:79,318,675 | G/A | — | likely benign |
| rs114286793 | 9:79,318,795 | A/G | — | benign |
| rs1336189637 | 9:79,318,842 | G/A | — | uncertain significance |
| rs562742243 | 9:79,318,855 | A/C | — | uncertain significance |
| rs7868609 | 9:79,318,866 | G/T | — | benign |
| rs373284279 | 9:79,318,874 | A/C | — | uncertain significance |
| rs2046112033 | 9:79,318,977 | T/C | — | uncertain significance |
| rs747349604 | 9:79,319,743 | C/A | — | uncertain significance |
| rs114028146 | 9:79,319,780 | C/T | — | benign |
| rs759754545 | 9:79,319,880 | C/T | — | likely benign |
| rs2548447104 | 9:79,319,916 | C/A | — | uncertain significance |
| rs767156306 | 9:79,320,039 | G/C | — | uncertain significance |
| rs1296905826 | 9:79,320,051 | A/G | — | uncertain significance |
| rs2548448834 | 9:79,320,064 | C/T | — | uncertain significance |
| rs774460664 | 9:79,320,107 | G/C | — | uncertain significance |
| rs757663654 | 9:79,320,132 | T/A | — | uncertain significance |
| rs201531109 | 9:79,320,150 | G/A | — | uncertain significance |
| rs116462412 | 9:79,320,159 | G/A | — | uncertain significance |
| rs770870369 | 9:79,320,183 | T/C | — | uncertain significance |
| rs1347281489 | 9:79,320,188 | A/C | — | uncertain significance |
| rs753525046 | 9:79,320,204 | G/C | — | uncertain significance |
| rs745731361 | 9:79,320,276 | T/C | — | uncertain significance |
| rs368011437 | 9:79,320,277 | C/T | — | uncertain significance |
| rs760068452 | 9:79,320,285 | C/T | — | uncertain significance |
| rs374534520 | 9:79,320,292 | C/T | — | uncertain significance |
| rs888651294 | 9:79,320,323 | G/T | — | uncertain significance |
| rs781421929 | 9:79,320,375 | T/C | — | likely benign |
| rs199566522 | 9:79,320,393 | A/G | — | uncertain significance |
| rs2046246957 | 9:79,320,406 | C/T | — | uncertain significance |
| rs116030326 | 9:79,320,439 | T/G | — | benign |
| rs1384861628 | 9:79,320,468 | T/G | — | uncertain significance |
| rs1456107413 | 9:79,320,532 | G/A | — | uncertain significance |
| rs2046259094 | 9:79,320,562 | C/T | — | likely benign |
| rs370217139 | 9:79,320,564 | C/G | — | uncertain significance |
| rs747616410 | 9:79,320,573 | G/A | — | uncertain significance |
| rs369589576 | 9:79,320,661 | T/C | — | uncertain significance |
| rs748802656 | 9:79,320,693 | G/C | — | uncertain significance |
| rs374495101 | 9:79,320,712 | G/A | — | uncertain significance |
| rs552501087 | 9:79,320,735 | T/A | — | uncertain significance |
| rs2046272807 | 9:79,320,744 | G/A | — | uncertain significance |
| rs1306001177 | 9:79,320,756 | G/C | — | uncertain significance |
| rs200037491 | 9:79,320,768 | A/G | — | uncertain significance |
| rs536155126 | 9:79,320,864 | T/C | — | uncertain significance |
| rs2548460436 | 9:79,320,901 | T/A | — | uncertain significance |
| rs1397551005 | 9:79,320,903 | T/C | — | uncertain significance |
| rs184351514 | 9:79,320,918 | G/A | — | uncertain significance |
| rs114221706 | 9:79,320,991 | C/T | — | benign |
| rs975568397 | 9:79,321,019 | A/T | — | uncertain significance |
| rs188041885 | 9:79,321,026 | C/A | — | uncertain significance |
| rs115335815 | 9:79,321,097 | T/C | — | benign |
| rs747913376 | 9:79,321,164 | G/C | — | uncertain significance |
| rs773227993 | 9:79,321,171 | C/T | — | uncertain significance |
| rs770957678 | 9:79,321,186 | T/C | — | uncertain significance |
| rs1588712318 | 9:79,321,207 | T/C | — | uncertain significance |
| rs200769595 | 9:79,321,234 | T/A | — | uncertain significance |
| rs116775234 | 9:79,321,261 | C/T | — | benign |
| rs200041998 | 9:79,321,353 | C/T | — | likely benign |
| rs200567599 | 9:79,321,365 | A/C | — | uncertain significance |
| rs2548468504 | 9:79,321,431 | T/C | — | uncertain significance |
| rs2548468623 | 9:79,321,441 | G/C | — | uncertain significance |
| rs371561946 | 9:79,321,482 | G/A | — | uncertain significance |
| rs1304057900 | 9:79,321,489 | T/C | — | likely benign |
| rs146002268 | 9:79,321,555 | C/A | — | uncertain significance |
| rs758221628 | 9:79,321,563 | A/G | — | likely benign |
| rs370877282 | 9:79,321,590 | G/A | — | uncertain significance |
| rs550713939 | 9:79,321,675 | G/C | — | uncertain significance |
Showing 100 of 230 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.