KRT18

Chr 12

keratin 18

Also known as: CK-18, CYK18, K18

KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCirrhosis

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
7
Active trials
68
Pubs (1 yr)
P/LP submissions
P/LP missense
0.44
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

Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.735
Z-score 3.21
OE 0.17 (0.080.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.04Z-score
OE missense 0.81 (0.720.92)
202 obs / 248.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.17 (0.080.44)
00.351.4
Missense OE?0.81 (0.720.92)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 3 / 17.5Missense obs/exp: 202 / 248.0Syn Z: -0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT18 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

NSCLC (Advanced Non-small Cell Lung Cancer)NSCLC Stage IIIB~IVNSCLC Non-small Cell Lung Cancer

Immune-Marker Platform for Patients With Advanced Lung Cancer

NOT YET RECRUITING
NCT07150598Technische Universität DresdenStarted 2025-09-01
NASH - Nonalcoholic Steatohepatitis

A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis

NOT YET RECRUITING
NCT03468556Phase PHASE2Sinew Pharma Inc.Started 2026-04-01
SNP-610Placebo Oral Tablet
Polycystic Ovary Syndrome (PCOS)Metabolic Dysfunction-Associated Steatotic Liver DiseasePediatric Obesity

Biomarker Panel for PCOS-Associated Liver Steatosis in Adolescent Girls (COMPASS-pedPCOS)

NOT YET RECRUITING
NCT07731373Kayseri City HospitalStarted 2026-09-01
Extended Serum Biomarker and Hormonal PanelLiver Elastography with Controlled Attenuation ParameterTargeted Genotyping of PNPLA3 rs738409 and HSD17B13 rs72613567
Acute-On-Chronic Liver FailureAlcoholic HepatitisLiver Cirrhosis, Alcoholic

A-TANGO Phase 2 Study

NOT YET RECRUITING
NCT06890039Phase PHASE2Yaqrit LtdStarted 2025-09-01
PlaceboTAK-242G-CSF (Filgrastim)
Healthy AgingMiddle-aged and Older Adults

Peanut Butter and Brain Health

NOT YET RECRUITING
NCT07774546Phase NAPenn State UniversityStarted 2026-09
Peanut butter
Nonalcoholic Fatty Liver DiseaseNonalcoholic Fatty Liver Disease (NAFLD)MASLD - Metabolic Dysfunction-Associated Steatotic Liver Disease

The Impact of Pectin Supplementation on Systematic Inflammation Pathway, Gut Microbiome, and Metabolic Health in Patients With Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)

RECRUITING
NCT07093346Phase NAUniversity of NottinghamStarted 2025-06-10
PectinCocoa PowderMagnetic Resonance Imaging with Contrast
Alcohol Use DisorderRisk Behavior, HealthDysbiosis

Alcohol Misuse, Gut Microbial Dysbiosis and PrEP Care Continuum: Application and Efficacy of SBIRT Intervention

RECRUITING
NCT06005298Phase NAShirish S BarveStarted 2023-08-01
Screening, Brief Intervention, Referral to Treatment (SBIRT)