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SERPINB7

Chr 18q21.33

serpin family B member 7

MANE:
ENST00000398019.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ichthyosis and erythrokeratoderma

    BIALLELIC, autosomal or pseudoautosomal
  • Palmoplantar keratoderma and erythrokeratodermas

    BIALLELIC, autosomal or pseudoautosomal
  • Palmoplantar keratodermas

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • palmoplantar keratoderma, Nagashima type

    0.72
  • asthma

    0.48
  • atopic eczema

    0.47
  • childhood onset asthma

    0.40
  • Palmoplantar keratoderma

    0.37
  • epidermolytic palmoplantar keratoderma, 1

    0.37
  • hereditary palmoplantar keratoderma

    0.37
  • Eczematoid dermatitis

    0.33
  • dermatitis

    0.33
  • Allergy

    0.31

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

Protein function (UniProt)

Serpin B7

Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin

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.