FKBP6

Chr 7AR

FKBP prolyl isomerase family member 6 (inactive)

Also known as: FKBP36, SPGF77

The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure 77MIM #620103
AR
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.03
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.000
Z-score 1.46
OE 0.64 (0.411.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.67Z-score
OE missense 0.86 (0.750.98)
154 obs / 179.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.411.03)
00.351.4
Missense OE?0.86 (0.750.98)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 12 / 18.9Missense obs/exp: 154 / 179.1Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FKBP6 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →