FBXO4
F-box protein 4
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2231916 | 5:41,925,431 | G/C | — | uncertain significance |
| rs1254451061 | 5:41,925,444 | C/G | — | uncertain significance |
| rs765044998 | 5:41,925,461 | T/G | — | uncertain significance |
| rs1489638708 | 5:41,925,467 | A/G | — | uncertain significance |
| rs1043639734 | 5:41,925,482 | A/T | — | uncertain significance |
| rs376237718 | 5:41,925,545 | G/A | — | uncertain significance |
| rs1389654889 | 5:41,925,562 | G/A | — | uncertain significance |
| rs1372152038 | 5:41,925,593 | G/A | — | uncertain significance |
| rs2479049903 | 5:41,927,179 | C/G | — | uncertain significance |
| rs761591838 | 5:41,927,181 | A/T | — | uncertain significance |
| rs771421642 | 5:41,927,283 | G/T | — | uncertain significance |
| rs79479803 | 5:41,927,325 | G/C | — | uncertain significance |
| rs144096644 | 5:41,929,895 | G/A | — | likely benign |
| rs563591124 | 5:41,929,906 | G/A | — | uncertain significance |
| rs762924195 | 5:41,929,995 | G/A | — | uncertain significance |
| rs755875450 | 5:41,934,245 | G/T | — | uncertain significance |
| rs139568068 | 5:41,934,294 | G/A | — | uncertain significance |
| rs532637639 | 5:41,934,308 | G/A | — | uncertain significance |
| rs1751786709 | 5:41,934,333 | G/T | — | uncertain significance |
| rs146729073 | 5:41,934,339 | T/A | — | uncertain significance |
| rs1371101071 | 5:41,939,650 | G/A | — | uncertain significance |
| rs777937216 | 5:41,941,310 | C/T | — | uncertain significance |
| rs747740555 | 5:41,941,373 | G/A | — | likely benign |
| rs277407 | 5:41,958,521 | A/T | — | — |
| rs772210082 | 5:41,974,971 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.