N4BP2
NEDD4 binding protein 2
Summary
This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Known Variants99 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28379929 | 4:40,068,354 | A/T | — | — |
| rs111889876 | 4:40,082,244 | C/T | downstream gene variant | — |
| rs2530218157 | 4:40,098,989 | G/T | — | uncertain significance |
| rs2530218320 | 4:40,099,009 | G/A | — | uncertain significance |
| rs138317254 | 4:40,099,048 | C/T | — | uncertain significance |
| rs748112633 | 4:40,099,049 | G/T | — | uncertain significance |
| rs1474782718 | 4:40,099,051 | G/C | — | uncertain significance |
| rs2530219061 | 4:40,099,118 | G/A | — | uncertain significance |
| rs779095793 | 4:40,103,747 | A/G | — | uncertain significance |
| rs1460797508 | 4:40,103,776 | C/T | — | uncertain significance |
| rs771771916 | 4:40,103,926 | A/T | — | uncertain significance |
| rs149445903 | 4:40,103,927 | C/G | — | uncertain significance |
| rs10014170 | 4:40,104,051 | A/G | — | benign |
| rs763510266 | 4:40,104,082 | C/A | — | uncertain significance |
| rs777152198 | 4:40,104,136 | C/T | — | uncertain significance |
| rs374855885 | 4:40,104,234 | G/A | — | uncertain significance |
| rs2530247121 | 4:40,104,330 | A/G | — | uncertain significance |
| rs1715820889 | 4:40,104,432 | G/A | — | uncertain significance |
| rs1715821223 | 4:40,104,433 | G/A | — | likely benign |
| rs2109963365 | 4:40,104,521 | G/C | — | uncertain significance |
| rs201459157 | 4:40,104,535 | C/T | — | uncertain significance |
| rs1488854844 | 4:40,104,543 | C/T | — | uncertain significance |
| rs1423383899 | 4:40,104,551 | G/A | — | uncertain significance |
| rs750292214 | 4:40,104,684 | C/T | — | uncertain significance |
| rs200252706 | 4:40,104,705 | A/G | — | uncertain significance |
| rs780145206 | 4:40,104,723 | T/C | — | uncertain significance |
| rs34368881 | 4:40,105,117 | T/C | — | — |
| rs368169013 | 4:40,108,560 | A/G | — | uncertain significance |
| rs767714319 | 4:40,108,587 | C/G | — | uncertain significance |
| rs754309532 | 4:40,108,599 | G/T | — | uncertain significance |
| rs763147025 | 4:40,113,736 | A/G | — | likely benign |
| rs776030440 | 4:40,115,122 | T/A | — | uncertain significance |
| rs139764100 | 4:40,119,490 | C/T | — | uncertain significance |
| rs749818029 | 4:40,119,491 | G/A | — | uncertain significance |
| rs200041215 | 4:40,119,614 | G/A | — | uncertain significance |
| rs377625019 | 4:40,121,590 | A/C | — | uncertain significance |
| rs201270289 | 4:40,121,595 | A/G | — | likely benign |
| rs747946850 | 4:40,121,666 | G/A | — | uncertain significance |
| rs746925388 | 4:40,121,708 | C/G | — | uncertain significance |
| rs1200644771 | 4:40,121,778 | A/G | — | uncertain significance |
| rs148832572 | 4:40,121,822 | A/T | — | uncertain significance |
| rs200304108 | 4:40,121,901 | T/A | — | uncertain significance |
| rs1261701304 | 4:40,121,962 | C/A | — | uncertain significance |
| rs887539856 | 4:40,122,050 | A/C | — | uncertain significance |
| rs773657561 | 4:40,122,076 | A/G | — | uncertain significance |
| rs2530343237 | 4:40,122,078 | G/A | — | uncertain significance |
| rs183553717 | 4:40,122,168 | G/A | — | uncertain significance |
| rs2530344352 | 4:40,122,190 | A/G | — | uncertain significance |
| rs760432969 | 4:40,122,237 | G/C | — | uncertain significance |
| rs149362796 | 4:40,122,253 | G/A | — | likely benign |
| rs147197612 | 4:40,122,370 | A/G | — | likely benign |
| rs78767806 | 4:40,122,377 | G/A | — | benign |
| rs373411920 | 4:40,122,379 | G/A | — | uncertain significance |
| rs1364772224 | 4:40,122,504 | A/G | — | uncertain significance |
| rs780417256 | 4:40,122,514 | A/G | — | uncertain significance |
| rs1717849415 | 4:40,122,610 | G/A | — | likely benign |
| rs374862729 | 4:40,122,628 | A/C | — | likely benign |
| rs760317072 | 4:40,122,637 | A/G | — | uncertain significance |
| rs895076680 | 4:40,122,673 | A/G | — | likely benign |
| rs139089220 | 4:40,122,706 | C/A | — | uncertain significance |
| rs1717864423 | 4:40,122,743 | G/T | — | uncertain significance |
| rs746046604 | 4:40,122,874 | G/A | — | uncertain significance |
| rs555457361 | 4:40,122,883 | C/T | — | uncertain significance |
| rs111253385 | 4:40,122,885 | A/G | — | uncertain significance |
| rs764639205 | 4:40,122,939 | G/A | — | uncertain significance |
| rs2530351249 | 4:40,122,943 | T/C | — | uncertain significance |
| rs2530351740 | 4:40,123,006 | T/C | — | uncertain significance |
| rs149199322 | 4:40,123,120 | C/T | — | uncertain significance |
| rs367745461 | 4:40,123,128 | T/C | — | uncertain significance |
| rs113582483 | 4:40,123,162 | C/T | — | uncertain significance |
| rs774513533 | 4:40,123,248 | A/G | — | uncertain significance |
| rs754583432 | 4:40,123,351 | G/C | — | uncertain significance |
| rs1717946687 | 4:40,123,395 | C/G | — | uncertain significance |
| rs1274184394 | 4:40,123,404 | G/T | — | uncertain significance |
| rs143742131 | 4:40,123,462 | A/G | — | uncertain significance |
| rs771324922 | 4:40,123,498 | C/G | — | uncertain significance |
| rs570556083 | 4:40,123,540 | T/C | — | uncertain significance |
| rs199515421 | 4:40,123,578 | C/T | — | uncertain significance |
| rs114198420 | 4:40,123,586 | T/A | — | likely benign |
| rs935250939 | 4:40,123,693 | A/T | — | uncertain significance |
| rs2530358842 | 4:40,123,777 | C/T | — | uncertain significance |
| rs770648289 | 4:40,123,796 | A/T | — | uncertain significance |
| rs555261702 | 4:40,123,827 | G/T | — | uncertain significance |
| rs139830934 | 4:40,123,828 | C/T | — | likely benign |
| rs758645676 | 4:40,123,872 | C/T | — | uncertain significance |
| rs146167456 | 4:40,124,795 | C/T | — | uncertain significance |
| rs1579089319 | 4:40,127,846 | T/A | — | uncertain significance |
| rs1183389544 | 4:40,127,919 | A/C | — | uncertain significance |
| rs2530407831 | 4:40,133,511 | T/A | — | uncertain significance |
| rs572893305 | 4:40,138,631 | G/T | — | uncertain significance |
| rs2530472431 | 4:40,144,326 | A/C | — | uncertain significance |
| rs201204950 | 4:40,144,440 | C/T | — | uncertain significance |
| rs1449283756 | 4:40,146,256 | C/T | — | uncertain significance |
| rs551145145 | 4:40,146,367 | A/G | — | uncertain significance |
| rs758417611 | 4:40,154,471 | G/A | — | uncertain significance |
| rs747259299 | 4:40,154,477 | C/T | — | uncertain significance |
| rs761797001 | 4:40,154,507 | A/G | — | uncertain significance |
| rs772024668 | 4:40,155,820 | A/G | — | uncertain significance |
| rs67569805 | 4:40,164,529 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.