SKP2
S-phase kinase associated 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; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs183519311 | 5:36,151,557 | C/A | upstream gene variant | — |
| rs774666099 | 5:36,152,941 | C/T | — | uncertain significance |
| rs2362974 | 5:36,156,654 | G/A | regulatory region variant | — |
| rs750556105 | 5:36,168,422 | C/T | — | uncertain significance |
| rs2546130827 | 5:36,170,499 | G/T | — | uncertain significance |
| rs16902780 | 5:36,175,787 | A/G | intron variant | — |
| rs2546138200 | 5:36,177,304 | A/C | — | uncertain significance |
| rs42425 | 5:36,178,293 | C/T | regulatory region variant | — |
| rs2546143306 | 5:36,181,934 | T/C | — | uncertain significance |
| rs1161568126 | 5:36,181,990 | C/G | — | uncertain significance |
| rs2546143622 | 5:36,182,124 | T/A | — | uncertain significance |
| rs2546143636 | 5:36,182,129 | T/A | — | uncertain significance |
| rs201844297 | 5:36,183,958 | G/A | — | uncertain significance |
| rs140524103 | 5:36,184,072 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.