Skip to content
GenoLensGenoLens

TPP2

Chr 13q33.1

tripeptidyl peptidase 2

Aliases:
TPPII
MANE:
ENST00000376052.5

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset leukodystrophy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency 78 with autoimmunity and developmental delay

    0.76
  • Evans syndrome

    0.66
  • neurodegenerative disease

    0.51
  • Global developmental delay

    0.45
  • Autoimmunity

    0.37
  • atrial fibrillation

    0.33
  • Recurrent upper respiratory tract infections

    0.33
  • Thrombocytopenia

    0.33
  • Cutis marmorata

    0.33
  • Recurrent lower respiratory tract infections

    0.33

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

Protein function (UniProt)

Tripeptidyl-peptidase 2

Cytosolic tripeptidyl-peptidase that releases N-terminal tripeptides from polypeptides and is a component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway (PubMed:25525876, PubMed:30533531). It plays an important role in intracellular amino acid homeostasis (PubMed:25525876). Stimulates adipogenesis (By similarity)

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.