CBLB
Cbl proto-oncogene B
Summary
This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9657913 | 3:105,375,252 | A/T | 3 prime UTR variant | — |
| rs561530977 | 3:105,377,882 | C/T | — | uncertain significance |
| rs1291410122 | 3:105,377,962 | G/C | — | uncertain significance |
| rs371406651 | 3:105,378,037 | C/T | — | uncertain significance |
| rs752792548 | 3:105,378,047 | G/C | — | uncertain significance |
| rs55821768 | 3:105,378,061 | G/C | — | not provided |
| rs35834008 | 3:105,387,230 | C/A | intron variant | — |
| rs9878058 | 3:105,388,605 | G/A | intron variant | — |
| rs114781701 | 3:105,389,084 | T/C | — | benign |
| rs1472604572 | 3:105,389,101 | A/G | — | uncertain significance |
| rs35835913 | 3:105,389,119 | T/C | — | benign |
| rs772791305 | 3:105,389,146 | T/C | — | uncertain significance |
| rs11713094 | 3:105,389,153 | A/G | — | benign |
| rs2546107487 | 3:105,389,190 | A/G | — | uncertain significance |
| rs2065909021 | 3:105,397,304 | G/A | — | uncertain significance |
| rs150795419 | 3:105,397,313 | C/T | — | uncertain significance |
| rs56310324 | 3:105,400,420 | T/C | — | benign |
| rs1408168771 | 3:105,400,441 | A/C | — | uncertain significance |
| rs2301051 | 3:105,401,406 | A/T | intron variant | — |
| rs535043797 | 3:105,404,168 | C/G | — | uncertain significance |
| rs1452092342 | 3:105,404,189 | A/G | — | uncertain significance |
| rs769320828 | 3:105,404,191 | T/C | — | uncertain significance |
| rs558870768 | 3:105,404,250 | A/T | — | uncertain significance |
| rs2152738572 | 3:105,404,255 | C/T | — | uncertain significance |
| rs1386796717 | 3:105,404,258 | C/G | — | uncertain significance |
| rs34801525 | 3:105,404,298 | C/T | — | likely benign |
| rs13315174 | 3:105,406,468 | G/A | intron variant | — |
| rs1339230124 | 3:105,412,366 | G/C | — | uncertain significance |
| rs2067982619 | 3:105,412,375 | G/A | — | uncertain significance |
| rs114046756 | 3:105,412,383 | C/T | — | likely benign |
| rs2546413323 | 3:105,412,386 | G/A | — | uncertain significance |
| rs6787175 | 3:105,416,421 | C/G | intron variant | — |
| rs41311396 | 3:105,420,963 | T/C | — | not provided |
| rs138175657 | 3:105,420,966 | C/A | — | uncertain significance |
| rs372086643 | 3:105,420,979 | G/A | — | uncertain significance |
| rs587778164 | 3:105,420,984 | A/G | — | uncertain significance |
| rs2546514183 | 3:105,421,018 | C/G | — | uncertain significance |
| rs41302192 | 3:105,421,032 | C/G | — | likely benign |
| rs3772534 | 3:105,421,034 | C/T | synonymous variant | benign |
| rs1559877462 | 3:105,421,054 | G/T | — | uncertain significance |
| rs755958233 | 3:105,421,077 | C/T | — | uncertain significance |
| rs373062024 | 3:105,421,086 | A/C | — | uncertain significance |
| rs773276515 | 3:105,421,095 | G/C | — | uncertain significance |
| rs759775874 | 3:105,421,111 | G/A | — | uncertain significance |
| rs144639540 | 3:105,421,187 | T/C | — | likely benign |
| rs148064625 | 3:105,421,227 | G/A | — | not provided |
| rs1425619029 | 3:105,421,269 | G/A | — | uncertain significance |
| rs2546521313 | 3:105,421,272 | T/G | — | uncertain significance |
| rs115014051 | 3:105,421,277 | T/C | — | likely benign |
| rs2305037 | 3:105,422,844 | C/T | — | benign |
| rs762704280 | 3:105,422,865 | T/G | — | uncertain significance |
| rs2546547929 | 3:105,423,002 | T/A | — | uncertain significance |
| rs567562675 | 3:105,428,411 | C/A | — | — |
| rs535219619 | 3:105,438,896 | G/A | — | pathogenic |
| rs61758360 | 3:105,438,902 | T/C | — | benign |
| rs114461789 | 3:105,438,920 | T/C | — | not provided |
| rs2305036 | 3:105,438,957 | T/G | — | benign |
| rs368162566 | 3:105,438,964 | G/A | — | uncertain significance |
| rs2546690546 | 3:105,438,983 | T/C | — | uncertain significance |
| rs2546690593 | 3:105,438,984 | G/C | — | uncertain significance |
| rs2152826353 | 3:105,438,990 | G/C | — | pathogenic |
| rs116474782 | 3:105,438,994 | C/T | — | uncertain significance |
| rs2305035 | 3:105,439,026 | G/A | — | benign |
| rs747819451 | 3:105,439,090 | G/A | — | uncertain significance |
| rs568168857 | 3:105,452,863 | G/A | — | not provided |
| rs9657925 | 3:105,452,895 | A/G | — | benign |
| rs114003941 | 3:105,456,033 | G/A | — | benign |
| rs9657906 | 3:105,464,766 | A/G | — | benign |
| rs116564819 | 3:105,464,781 | T/C | — | benign |
| rs587778165 | 3:105,464,785 | T/G | — | not provided |
| rs2546956921 | 3:105,464,836 | T/A | — | pathogenic |
| rs560042700 | 3:105,464,863 | C/T | — | not provided |
| rs138009374 | 3:105,470,435 | T/C | — | likely benign |
| rs748996723 | 3:105,470,441 | T/A | — | likely benign |
| rs774346321 | 3:105,470,455 | C/T | — | uncertain significance |
| rs2547247537 | 3:105,495,244 | C/G | — | uncertain significance |
| rs373239378 | 3:105,495,321 | G/T | — | uncertain significance |
| rs1022800610 | 3:105,572,318 | C/T | — | uncertain significance |
| rs368086824 | 3:105,586,409 | T/C | — | uncertain significance |
| rs780651060 | 3:105,586,417 | G/T | — | uncertain significance |
| rs55944080 | 3:105,586,436 | C/A | — | not provided |
| rs9657904 | 3:105,586,714 | T/A | — | — |
| rs552303618 | 3:105,588,213 | G/C | — | not provided |
Gene information from NCBI Gene. Variant classifications from ClinVar.