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ST14

Chr 11q24.3

ST14 transmembrane serine protease matriptase

Aliases:
SNC19, HAI, MT-SP1, TMPRSS14, CAP3
MANE:
ENST00000278742.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autosomal recessive congenital ichthyosis

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Ectodermal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Ichthyosis and erythrokeratoderma

    BIALLELIC, autosomal or pseudoautosomal
  • Familial cicatricial alopecia

    BIALLELIC, autosomal or pseudoautosomal
  • Palmoplantar keratodermas

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Ichthyosis-hypotrichosis syndrome

    0.73
  • autosomal recessive congenital ichthyosis 11

    0.71
  • Abnormality of the skeletal system

    0.35
  • ovarian neoplasm

    0.29
  • benign neoplasm of pituitary gland

    0.29
  • ichthyosis

    0.27
  • hereditary disease

    0.19
  • breast cancer

    0.12
  • breast carcinoma

    0.12
  • myopia

    0.11

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

Protein function (UniProt)

Suppressor of tumorigenicity 14 protein

Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site (PubMed:10373424). Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing (PubMed:18843291). Proteolytically cleaves and therefore activates TMPRSS13 (PubMed:28710277)

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.