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GenoLensGenoLens

FLG2

Chr 1q21.3

filaggrin 2

Aliases:
IFPS
MANE:
ENST00000388718.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Epidermolysis bullosa and congenital skin fragility

    BIALLELIC, autosomal or pseudoautosomal
  • Ichthyosis and erythrokeratoderma

    BIALLELIC, autosomal or pseudoautosomal
  • Palmoplantar keratodermas

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • peeling skin syndrome 6

    0.70
  • peeling skin syndrome

    0.37
  • generalized peeling skin syndrome

    0.37
  • peeling skin syndrome type A

    0.37
  • atopic eczema

    0.29
  • allergic disease

    0.26
  • sign or symptom

    0.24
  • asthma

    0.23
  • Abnormality of the skeletal system

    0.22
  • skin disorder

    0.14

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

Protein function (UniProt)

Filaggrin-2

Essential for normal cell-cell adhesion in the cornified cell layers (PubMed:29758285). Important for proper integrity and mechanical strength of the stratum corneum of the epidermis (PubMed:29505760)

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.