FKBP5
FKBP prolyl isomerase 5
Summary
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12055438 | 6:35,541,058 | C/T | downstream gene variant | — |
| rs3800373 | 6:35,542,476 | C/A | 3 prime UTR variant | benign |
| rs1762195367 | 6:35,543,631 | T/C | — | uncertain significance |
| rs573307937 | 6:35,543,665 | T/C | — | uncertain significance |
| rs556530479 | 6:35,543,677 | C/A | — | likely benign |
| rs142335739 | 6:35,543,707 | T/C | — | uncertain significance |
| rs201040791 | 6:35,543,719 | C/T | — | uncertain significance |
| rs759431987 | 6:35,544,821 | G/A | — | uncertain significance |
| rs1762245289 | 6:35,544,858 | C/T | — | uncertain significance |
| rs778812335 | 6:35,547,979 | G/A | — | uncertain significance |
| rs7757037 | 6:35,548,236 | G/A | regulatory region variant | — |
| rs755658 | 6:35,549,670 | C/T | regulatory region variant | — |
| rs180923765 | 6:35,551,668 | G/A | regulatory region variant | — |
| rs764862838 | 6:35,558,917 | C/T | — | uncertain significance |
| rs762346948 | 6:35,558,939 | T/C | — | uncertain significance |
| rs113805226 | 6:35,566,133 | G/A | intron variant | — |
| rs9296158 | 6:35,567,082 | A/T | — | — |
| rs737054 | 6:35,575,487 | G/A | coding sequence variant | likely risk allele |
| rs3777747 | 6:35,579,002 | A/G | regulatory region variant | — |
| rs6926133 | 6:35,579,375 | A/C | — | likely risk allele |
| rs1763748379 | 6:35,586,902 | G/A | — | uncertain significance |
| rs764261298 | 6:35,586,955 | T/G | — | uncertain significance |
| rs2534032392 | 6:35,587,955 | G/T | — | uncertain significance |
| rs1261781238 | 6:35,587,995 | A/G | — | uncertain significance |
| rs7748266 | 6:35,592,744 | T/A | — | — |
| rs145526731 | 6:35,596,614 | C/T | intron variant | — |
| rs553233411 | 6:35,599,754 | G/T | — | — |
| rs2534072928 | 6:35,604,843 | C/A | — | uncertain significance |
| rs749989036 | 6:35,604,911 | C/T | — | uncertain significance |
| rs149315947 | 6:35,604,934 | A/G | — | uncertain significance |
| rs1581842283 | 6:35,607,267 | T/G | — | risk factor |
| rs1360780 | 6:35,607,571 | T/C | intron variant | risk factor |
| rs73748206 | 6:35,607,955 | C/T | — | benign |
| rs754962247 | 6:35,610,505 | C/A | — | uncertain significance |
| rs746012541 | 6:35,610,558 | G/C | — | uncertain significance |
| rs990912107 | 6:35,610,564 | C/T | — | likely benign |
| rs146032538 | 6:35,610,590 | A/G | — | benign |
| rs4713902 | 6:35,614,026 | T/C | intron variant | likely risk allele |
| rs6931118 | 6:35,620,550 | C/A | — | — |
| rs9394309 | 6:35,621,781 | G/A | downstream gene variant | — |
| rs9380525 | 6:35,633,038 | G/C | — | likely risk allele |
| rs114623987 | 6:35,637,377 | C/T | regulatory region variant | — |
| rs79218801 | 6:35,641,258 | G/A | intron variant | — |
| rs9470079 | 6:35,643,063 | A/G | — | likely risk allele |
| rs9470080 | 6:35,646,435 | T/C | intron variant | — |
| rs13215797 | 6:35,656,431 | C/T | regulatory region variant | — |
| rs9368885 | 6:35,658,644 | A/G | intron variant | — |
| rs4713911 | 6:35,665,196 | T/C | downstream gene variant | — |
| rs4713916 | 6:35,669,983 | A/G | upstream gene variant | likely risk allele |
| rs6902321 | 6:35,670,607 | C/G | — | — |
| rs77379145 | 6:35,687,937 | G/A | regulatory region variant | — |
| rs77677939 | 6:35,694,577 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.