WWP2
WW domain containing E3 ubiquitin protein ligase 2
Summary
This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56140069 | 16:69,795,323 | A/T | upstream gene variant | — |
| rs149858454 | 16:69,805,221 | G/A | intron variant | — |
| rs57824734 | 16:69,811,995 | C/T | upstream gene variant | — |
| rs138206003 | 16:69,812,011 | T/C | upstream gene variant | — |
| rs4619391 | 16:69,814,763 | T/C | — | — |
| rs142617495 | 16:69,820,935 | C/T | — | uncertain significance |
| rs11641521 | 16:69,823,081 | C/G | upstream gene variant | — |
| rs68161338 | 16:69,823,778 | T/G | upstream gene variant | — |
| rs146520135 | 16:69,824,023 | G/A | upstream gene variant | — |
| rs76614752 | 16:69,830,109 | T/C | intron variant | — |
| rs6499255 | 16:69,830,328 | A/G | regulatory region variant | — |
| rs60231938 | 16:69,830,415 | G/A | regulatory region variant | — |
| rs2548420280 | 16:69,832,681 | C/A | — | uncertain significance |
| rs767090543 | 16:69,832,692 | A/T | — | uncertain significance |
| rs1366961267 | 16:69,832,699 | G/A | — | uncertain significance |
| rs375272256 | 16:69,833,193 | G/A | — | uncertain significance |
| rs12923438 | 16:69,835,101 | G/C | — | — |
| rs16959200 | 16:69,837,156 | C/T | intron variant | — |
| rs12598642 | 16:69,848,772 | A/G | regulatory region variant | — |
| rs62051384 | 16:69,859,182 | C/T | intron variant | — |
| rs12921407 | 16:69,860,933 | T/C | intron variant | — |
| rs12449259 | 16:69,863,850 | C/T | intron variant | — |
| rs2056950770 | 16:69,874,071 | A/C | — | uncertain significance |
| rs371454354 | 16:69,874,103 | A/G | — | uncertain significance |
| rs141633678 | 16:69,874,128 | A/G | — | uncertain significance |
| rs757130733 | 16:69,874,164 | A/C | — | uncertain significance |
| rs147074353 | 16:69,875,962 | G/C | — | uncertain significance |
| rs80292286 | 16:69,875,991 | C/T | — | benign |
| rs765437085 | 16:69,876,008 | T/A | — | uncertain significance |
| rs201287506 | 16:69,876,022 | C/T | — | uncertain significance |
| rs75491847 | 16:69,882,977 | C/T | regulatory region variant | — |
| rs73568154 | 16:69,884,306 | T/G | — | — |
| rs68039170 | 16:69,886,089 | T/C | intron variant | — |
| rs9922342 | 16:69,887,272 | A/G | intron variant | — |
| rs3790086 | 16:69,887,707 | C/A | — | — |
| rs7202233 | 16:69,894,432 | A/G | intron variant | — |
| rs7196917 | 16:69,896,527 | A/G | intron variant | — |
| rs7200258 | 16:69,897,469 | T/C | — | — |
| rs1566455 | 16:69,900,164 | G/C | — | — |
| rs141767645 | 16:69,903,165 | C/T | intron variant | — |
| rs7203612 | 16:69,903,306 | G/T | — | — |
| rs143156114 | 16:69,905,721 | C/T | — | conflicting classifications of pathogenicity |
| rs151186597 | 16:69,911,967 | T/C | intron variant | — |
| rs369653281 | 16:69,921,946 | T/A | — | uncertain significance |
| rs182311713 | 16:69,921,963 | C/A | — | uncertain significance |
| rs139052693 | 16:69,921,986 | G/A | — | uncertain significance |
| rs910129729 | 16:69,921,993 | G/A | — | uncertain significance |
| rs766785766 | 16:69,922,005 | C/T | — | uncertain significance |
| rs1466372901 | 16:69,922,044 | C/T | — | uncertain significance |
| rs2548545377 | 16:69,922,103 | A/G | — | uncertain significance |
| rs2362642 | 16:69,931,458 | G/A | intron variant | — |
| rs118029132 | 16:69,932,307 | A/G | intron variant | — |
| rs141794731 | 16:69,942,687 | A/G | — | uncertain significance |
| rs769042617 | 16:69,942,693 | G/A | — | uncertain significance |
| rs1314915081 | 16:69,942,749 | C/G | — | uncertain significance |
| rs2362644 | 16:69,946,204 | C/T | — | — |
| rs1206637433 | 16:69,951,622 | C/T | — | uncertain significance |
| rs772514474 | 16:69,951,662 | A/G | — | uncertain significance |
| rs4985459 | 16:69,953,508 | G/C | — | — |
| rs776384837 | 16:69,959,352 | A/G | — | uncertain significance |
| rs2548601640 | 16:69,963,353 | A/G | — | uncertain significance |
| rs2548601751 | 16:69,963,389 | C/G | — | uncertain significance |
| rs2058692737 | 16:69,964,109 | C/T | — | uncertain significance |
| rs372517256 | 16:69,964,146 | C/T | — | uncertain significance |
| rs761056397 | 16:69,965,457 | A/G | — | uncertain significance |
| rs577656898 | 16:69,965,732 | C/T | — | uncertain significance |
| rs10048129 | 16:69,966,150 | T/G | — | — |
| rs7205289 | 16:69,967,005 | C/A | coding sequence variant | — |
| rs62053262 | 16:69,969,299 | C/G | regulatory region variant | — |
| rs200119284 | 16:69,969,773 | G/T | — | uncertain significance |
| rs768209450 | 16:69,971,098 | C/T | — | uncertain significance |
| rs1039747502 | 16:69,971,119 | A/G | — | uncertain significance |
| rs1335017877 | 16:69,971,521 | C/G | — | uncertain significance |
| rs35059847 | 16:69,971,543 | G/T | — | uncertain significance |
| rs1351344340 | 16:69,973,024 | T/C | — | uncertain significance |
| rs148043506 | 16:69,973,286 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.