FBXO22
F-box protein 22
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 the 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 Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12437816 | 15:76,194,538 | G/A | — | — |
| rs7177266 | 15:76,195,940 | C/A | — | — |
| rs749853495 | 15:76,196,356 | C/T | — | uncertain significance |
| rs1226555295 | 15:76,196,852 | A/G | — | uncertain significance |
| rs753868039 | 15:76,196,863 | A/G | — | uncertain significance |
| rs150157752 | 15:76,196,878 | C/T | — | uncertain significance |
| rs1699263 | 15:76,198,708 | A/G | intron variant | — |
| rs4886466 | 15:76,200,304 | A/T | — | — |
| rs757686717 | 15:76,205,551 | G/A | — | likely benign |
| rs1900212749 | 15:76,209,642 | T/C | — | uncertain significance |
| rs772011588 | 15:76,209,727 | C/T | — | uncertain significance |
| rs758594294 | 15:76,222,333 | T/C | — | uncertain significance |
| rs760297427 | 15:76,225,028 | A/T | — | uncertain significance |
| rs780538180 | 15:76,225,111 | G/A | — | uncertain significance |
| rs769486004 | 15:76,225,163 | C/T | — | uncertain significance |
| rs1156885273 | 15:76,225,237 | G/A | — | uncertain significance |
| rs774350053 | 15:76,225,274 | T/G | — | uncertain significance |
| rs141220458 | 15:76,225,331 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.