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KRT8

Chr 12q13.13

keratin 8

Aliases:
CARD2, K8, CK8, CK-8, CYK8
MANE:
ENST00000692008.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Pancreatitis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Cirrhosis

    0.60
  • cirrhosis, familial

    0.40
  • neurodegenerative disease

    0.37
  • exocrine pancreatic carcinoma

    0.32
  • prostate carcinoma

    0.31
  • Abnormality of the liver

    0.30
  • sick sinus syndrome

    0.28
  • familial sick sinus syndrome

    0.28
  • Alzheimer disease

    0.22
  • Parkinson disease

    0.22

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

Protein function (UniProt)

Keratin, type II cytoskeletal 8

Structural component of intermediate filaments in simple epithelial cells. Together with its obligate type I partner KRT18, contributes to the formation of the keratin intermediate filament network that provides mechanical stability and resilience to epithelial cells (PubMed:26823019). Also involved in maintaining epithelial integrity and protecting cells from non-mechanical stress, such as apoptosis (By similarity). Also required for ARHGEF40-mediated actin stress fiber formation and tensional force-induced stress fiber formation and reinforcement (PubMed:26823019). In striated muscle, together with KRT19, may contribute to linking the contractile apparatus to dystrophin at the costameres (PubMed:16000376)

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.