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PLOD2

Chr 3q24

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Aliases:
LH2, TLH
MANE:
ENST00000282903.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Bruck syndrome

    0.78
  • osteogenesis imperfecta

    0.57
  • osteoarthritis, hip

    0.52
  • osteoarthritis

    0.50
  • osteoarthritis, knee

    0.45
  • Abnormality of the skeletal system

    0.42
  • skeletal dysplasia

    0.37
  • clubfoot

    0.34
  • Bowing of the long bones

    0.33
  • cleft palate

    0.33

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

Protein function (UniProt)

Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links

Curated MONDO disease pages that list PLOD2 among their top associated genes.

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.