FKBP1B
FKBP prolyl isomerase 1B
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 the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10194817 | 2:24,257,051 | A/T | — | — |
| rs150726348 | 2:24,257,250 | A/T | — | — |
| rs140144798 | 2:24,260,741 | A/G | synonymous variant | — |
| rs116520786 | 2:24,272,645 | C/T | regulatory region variant | — |
| rs72781699 | 2:24,277,709 | G/A | intron variant | — |
| rs145091408 | 2:24,280,923 | C/T | — | — |
| rs753812249 | 2:24,283,792 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.