FKBP5

Chr 6

FKBP prolyl isomerase 5

Also known as: AIG6, FKBP51, FKBP54, P54, PPIase, Ptg-10

NCBI Gene: 2289ENSG00000096060UniProt: Q13451

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]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
8
Active trials
263
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
—
Mechanism
📖
GeneReview available — FKBP5
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.734
Z-score 3.54
OE 0.18 (0.09–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.62Z-score
OE missense 0.71 (0.63–0.81)
179 obs / 251.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.09–0.42)
0≤0.351.4
Missense OE?0.71 (0.63–0.81)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 4 / 21.9Missense obs/exp: 179 / 251.1Syn Z: 0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FKBP5 · 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
Cortisol ExcessStress, PsychologicalAnxiety

Effects of "Vitamin N" Nature Immersion Therapy on Stress Levels in Health Care Workers in the City of Bogotá

ACTIVE NOT RECRUITING
NCT05315388Phase NAJeadran N. Malagón-RojasStarted 2022-10-15
Immersion therapy in nature - Vitamin N
Posttraumatic Stress Disorder

Biomolecular Characteristics of Reminder-Focused Positive-Psychiatry

RECRUITING
NCT04529031Phase NAUniversity of California, Los AngelesStarted 2026-04-01
Reminder Focused Positive Psychiatryattentional control condition (group process)
Major Depressive DisorderPostpartum Depression

Maternal Mental Health Trial

RECRUITING
NCT04685148Phase PHASE1, PHASE2Vibe G Frøkjær, MD, PhDStarted 2021-02-03
Transdermal patch estradiolTransdermal patch placebo
Maternal DistressChild Development

In Vitro Fertilization (IVF) and Prenatal Effects Independent of Genetics

RECRUITING
NCT07296107Columbia UniversityStarted 2026-05-08
Prenatal maternal psychosocial and biological assessment protocol
Healthy Participants

Reality-monitoring & Stress

RECRUITING
NCT05595434Phase NAHôpital le VinatierStarted 2024-04-25
Acute Maastricht Stress Test (MAST), active condition.Acute Maastricht Stress Test (MAST), placebo condition
Paraphilic DisordersSexual AddictionParasomnia

Paraphilic Disorders and Other Conditions With Risk for Sexual Violence: a Case-control Study

RECRUITING
NCT05861752Region StockholmStarted 2022-10-19
Treatment as usual
Healthy

Effect of Transcranial Alternative Current Stimulation at Alpha Frequency (α-tACS) on Stressed Healthy Subjects

RECRUITING
NCT06229002Phase NAHôpital le VinatierStarted 2024-01-24
Transcranial alternative current stimulation (tACS) at alpha frequencySham stimulation
Congenital Adrenal Hyperplasia (CAH)

Fertility And Sexual Function In CAH: CALLIOPE

RECRUITING
NCT07099456University of Roma La SapienzaStarted 2024-11-01

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