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KRT12

Chr 17q21.2

keratin 12

Aliases:
K12
MANE:
ENST00000251643.5
OMIM: 601687 ↗NCBI: 3859 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Corneal abnormalities

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Corneal dystrophy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Meesmann corneal dystrophy

    0.70

  • hereditary disease

    0.34

  • posterior polymorphous corneal dystrophy

    0.11

  • X-linked corneal dermoid

    0.11

  • Fuchs endothelial corneal dystrophy

    0.11

  • Thiel-Behnke corneal dystrophy

    0.10

  • X-linked endothelial corneal dystrophy

    0.10

  • Peters anomaly

    0.10

  • Familial ocular anterior segment mesenchymal dysgenesis

    0.10

  • lattice corneal dystrophy type I

    0.10

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

Protein function (UniProt)

Keratin, type I cytoskeletal 12

Structural component of intermediate filaments in the corneal epithelium. Forms heteropolymers with the type II keratin KRT3, assembling into keratin intermediate filament networks that provide mechanical strength and structural integrity to the corneal epithelial layer

Diseases associated with KRT12

Curated MONDO disease pages that list KRT12 among their top associated genes.

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.