FKBP8

Chr 19p13.11

FKBP prolyl isomerase 8

Aliases:: FKBP38, FKBPr38
MANE:: ENST00000608443.6

OMIM: 604840 ↗NCBI: 23770 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FKBP8 · Q14318

v62025-08-01

Predicted Aligned Error matrix for FKBP8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.6/ 100

Confident

412 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)4%
Low(50–70)12%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

spina bifida
0.20
Vertebral segmentation defect
0.18
marfanoid habitus and intellectual disability
0.12
colorectal carcinoma
0.07
inflammatory bowel disease
0.06
glioblastoma
0.06
microcephaly-cervical spine fusion anomalies syndrome
0.06
Microcephaly - cervical spine fusion anomalies
0.06
Seckel syndrome
0.06
Joubert syndrome
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Peptidyl-prolyl cis-trans isomerase FKBP8

Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. Involved in the inhibition of viral infection by influenza A viruses (IAV) (PubMed:28169297)