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PTPRO

Chr 12p12.3

protein tyrosine phosphatase receptor type O

Aliases:
PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6
MANE:
ENST00000281171.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Proteinuric renal disease

  • Unexplained kidney failure in young people

Disease associations (Open Targets)

  • familial idiopathic steroid-resistant nephrotic syndrome

    0.61
  • neurodegenerative disease

    0.42
  • nephrotic syndrome

    0.39
  • Parkinson disease

    0.39
  • endometriosis

    0.38
  • Alzheimer disease

    0.38
  • multiple sclerosis

    0.37
  • lysosomal storage disease

    0.37
  • hypertensive disorder

    0.32
  • intelligence

    0.30

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

Protein function (UniProt)

Receptor-type tyrosine-protein phosphatase U

Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis

Curated MONDO disease pages that list PTPRO 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.