FBXL2
F-box and leucine rich repeat protein 2
Summary
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs533349032 | 3:33,317,168 | T/G | — | — |
| rs112986417 | 3:33,357,981 | T/C | intron variant | — |
| rs373263400 | 3:33,400,815 | G/T | — | uncertain significance |
| rs747950097 | 3:33,406,121 | G/A | — | uncertain significance |
| rs146447986 | 3:33,408,869 | C/T | intron variant | — |
| rs2042401978 | 3:33,414,634 | G/A | — | uncertain significance |
| rs2470659159 | 3:33,414,797 | G/C | — | likely benign |
| rs946181883 | 3:33,418,782 | G/A | — | uncertain significance |
| rs2291897 | 3:33,419,422 | C/T | regulatory region variant | — |
| rs1193001754 | 3:33,420,189 | A/C | — | uncertain significance |
| rs766849396 | 3:33,425,549 | T/G | — | uncertain significance |
| rs765529329 | 3:33,427,035 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.