FKBP11

Chr 12

FKBP prolyl isomerase 11

Also known as: FKBP19

NCBI Gene: 51303ENSG00000134285UniProt: Q9NYL4

FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.53
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.000
Z-score 0.28
OE 0.91 (0.56–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.07Z-score
OE missense 1.02 (0.88–1.19)
115 obs / 112.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.56–1.53)
0≤0.351.4
Missense OE?1.02 (0.88–1.19)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 10 / 11.0Missense obs/exp: 115 / 112.8Syn Z: 0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FKBP11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients