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TMPRSS7

Chr 3q13.2

transmembrane serine protease 7

MANE:
ENST00000452346.7
NCBI: 344805 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • placental retention

    0.26

  • subarachnoid hemorrhage

    0.26

  • enthesopathy

    0.25

  • Abnormality of the integument

    0.25

  • neurodevelopmental disorder

    0.19

  • lacrimal apparatus disorder

    0.04

  • external ear disorder

    0.03

  • breast carcinoma

    0.03

  • breast cancer

    0.03

  • preeclampsia

    0.02

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

Protein function (UniProt)

Transmembrane protease serine 7

Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position

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.