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TMPRSS15

Chr 21q21.1

transmembrane serine protease 15

Aliases:
ENTK, MGC133046
MANE:
ENST00000284885.8
OMIM: 606635 ↗NCBI: 5651 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intestinal failure or congenital diarrhoea

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital enteropathy due to enteropeptidase deficiency

    0.71

  • ovarian neoplasm

    0.34

  • alcohol drinking

    0.31

  • placenta praevia

    0.28

  • smoking initiation

    0.27

  • canker sore

    0.25

  • obesity disorder

    0.25

  • seasonal allergic rhinitis

    0.24

  • Abnormality of the gastrointestinal tract

    0.24

  • mixed connective tissue disease

    0.24

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

Protein function (UniProt)

Enteropeptidase

Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases

Diseases associated with TMPRSS15

Curated MONDO disease pages that list TMPRSS15 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.