KRT8

Chr 12

keratin 8

NCBI Gene: 3856ENSG00000170421UniProt: P05787

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)

ResearchGenerating clinical summary…
2
Active trials
80
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.000
Z-score 1.32
OE 0.69 (0.46–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.78Z-score
OE missense 0.88 (0.79–0.97)
272 obs / 310.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.46–1.07)
0≤0.351.4
Missense OE?0.88 (0.79–0.97)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 15 / 21.6Missense obs/exp: 272 / 310.6Syn Z: -0.87

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

KRT8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients