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KRT16

Chr 17q21.2

keratin 16

Aliases:
NEPPK
MANE:
ENST00000301653.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ichthyosis and erythrokeratoderma

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Palmoplantar keratoderma and erythrokeratodermas

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • pachyonychia congenita

    0.78
  • palmoplantar keratoderma, nonepidermolytic, focal 1

    0.67
  • pachyonychia congenita 1

    0.66
  • Non-epidermolytic palmoplantar keratoderma

    0.56
  • focal palmoplantar keratoderma

    0.46
  • hereditary disease

    0.19
  • palmoplantar keratoderma, epidermolytic

    0.13
  • Localized epidermolytic hyperkeratosis

    0.12
  • psoriasis

    0.11
  • neoplasm

    0.10

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

Protein function (UniProt)

Keratin, type I cytoskeletal 16

Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance

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.