Skip to content
GenoLensGenoLens

PPIB

Chr 15q22.31

peptidylprolyl isomerase B

Aliases:
CYPB, OI9, PPIase, B, CYP-S1
MANE:
ENST00000300026.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Optic neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • osteogenesis imperfecta type 9

    0.66
  • osteogenesis imperfecta

    0.52
  • osteogenesis imperfecta type 4

    0.38
  • osteogenesis imperfecta type 3

    0.38
  • osteogenesis imperfecta type 2

    0.38
  • skeletal dysplasia

    0.37
  • severe acute respiratory syndrome

    0.37
  • osteogenesis imperfecta, recessive

    0.37
  • diabetic ketoacidosis

    0.25
  • hereditary disease

    0.19

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

Protein function (UniProt)

Peptidyl-prolyl cis-trans isomerase B

Peptidyl-prolyl cis-trans isomerase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.