SMURF2
SMAD specific E3 ubiquitin protein ligase 2
Summary
Enables SMAD binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of trophoblast cell migration; and ubiquitin-dependent protein catabolic process. Located in nuclear speck. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2509744620 | 17:62,541,973 | A/T | — | uncertain significance |
| rs782027289 | 17:62,542,043 | G/A | — | uncertain significance |
| rs782639687 | 17:62,542,414 | G/T | — | uncertain significance |
| rs550472832 | 17:62,542,419 | A/C | — | uncertain significance |
| rs2509746501 | 17:62,543,798 | T/C | — | uncertain significance |
| rs80081819 | 17:62,543,833 | A/G | — | benign |
| rs201657151 | 17:62,543,865 | G/A | — | uncertain significance |
| rs528473359 | 17:62,547,725 | T/C | — | likely benign |
| rs2509749931 | 17:62,547,772 | G/A | — | uncertain significance |
| rs370520140 | 17:62,551,079 | G/A | — | uncertain significance |
| rs75916382 | 17:62,551,442 | T/G | intron variant | — |
| rs1969141734 | 17:62,553,739 | G/C | — | uncertain significance |
| rs147790846 | 17:62,553,759 | T/C | — | likely benign |
| rs781853124 | 17:62,557,672 | C/T | — | uncertain significance |
| rs1447662481 | 17:62,558,958 | T/G | — | uncertain significance |
| rs782244329 | 17:62,559,083 | G/A | — | uncertain significance |
| rs370631579 | 17:62,567,906 | A/G | — | likely benign |
| rs34788315 | 17:62,567,987 | G/A | — | benign |
| rs374025782 | 17:62,568,026 | T/C | — | likely benign |
| rs143629300 | 17:62,568,057 | T/C | — | benign |
| rs144648010 | 17:62,568,058 | T/C | — | uncertain significance |
| rs536814155 | 17:62,568,078 | C/A | — | likely benign |
| rs532298206 | 17:62,576,523 | G/A | — | — |
| rs1555686500 | 17:62,576,969 | C/T | — | uncertain significance |
| rs535944315 | 17:62,577,027 | C/T | — | uncertain significance |
| rs144568802 | 17:62,577,055 | C/T | — | benign |
| rs147881898 | 17:62,577,106 | C/T | — | likely benign |
| rs139943497 | 17:62,579,589 | G/A | — | uncertain significance |
| rs200706492 | 17:62,579,644 | G/A | — | likely benign |
| rs2144645421 | 17:62,582,211 | G/T | — | uncertain significance |
| rs2509779093 | 17:62,582,252 | C/T | — | uncertain significance |
| rs578188136 | 17:62,587,208 | T/A | — | uncertain significance |
| rs75656954 | 17:62,587,242 | G/A | — | benign |
| rs781849582 | 17:62,589,575 | C/T | — | uncertain significance |
| rs80215473 | 17:62,589,578 | T/C | — | benign |
| rs373915337 | 17:62,589,658 | A/G | — | likely benign |
| rs111854052 | 17:62,600,935 | A/T | regulatory region variant | — |
| rs566967497 | 17:62,640,013 | C/T | — | — |
| rs9895772 | 17:62,647,603 | C/G | — | — |
| rs1033898098 | 17:62,657,942 | C/T | — | uncertain significance |
| rs2509214492 | 17:62,657,948 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.