KRT18

keratin 18, the group of Keratins, type I

Basic information

Region (hg38): 12:52948871-52952906

Links

ENSG00000111057NCBI:3875OMIM:148070HGNC:6430Uniprot:P05783AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • cirrhosis, familial (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT18 gene.

  • not_specified (31 variants)
  • not_provided (18 variants)
  • Hepatitis_C_virus,_susceptibility_to (3 variants)
  • Cirrhosis,_familial (3 variants)
  • Cirrhosis,_noncryptogenic,_susceptibility_to (1 variants)
  • Cirrhosis,_cryptogenic (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000224.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
1
clinvar
4
missense
1
clinvar
43
clinvar
1
clinvar
45
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 1 0 46 2 1

Highest pathogenic variant AF is 0.00032159

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRT18protein_codingprotein_codingENST00000388835 74031
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7350.265125697031257000.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.042022480.8150.00001522776
Missense in Polyphen1422.330.62696429
Synonymous-0.4881091031.060.00000595870
Loss of Function3.21317.50.1719.46e-7194

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001770.0000176
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection. {ECO:0000250, ECO:0000269|PubMed:15529338, ECO:0000269|PubMed:16424149, ECO:0000269|PubMed:17213200, ECO:0000269|PubMed:7523419, ECO:0000269|PubMed:8522591, ECO:0000269|PubMed:9298992, ECO:0000269|PubMed:9524113}.;
Disease
DISEASE: Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269|PubMed:12724528, ECO:0000269|PubMed:9011570}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Estrogen signaling pathway - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Pathogenic Escherichia coli infection;Keratinization;Developmental Biology;EGFR1;Caspase Cascade in Apoptosis (Consensus)

Recessive Scores

pRec
0.135

Intolerance Scores

loftool
0.0333
rvis_EVS
-0.27
rvis_percentile_EVS
34.32

Haploinsufficiency Scores

pHI
hipred
Y
hipred_score
0.809
ghis
0.516

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.948

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Krt18
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; embryo phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
cell cycle;anatomical structure morphogenesis;viral process;keratinization;tumor necrosis factor-mediated signaling pathway;Golgi to plasma membrane CFTR protein transport;negative regulation of apoptotic process;intermediate filament cytoskeleton organization;cornification;extrinsic apoptotic signaling pathway;hepatocyte apoptotic process;cell-cell adhesion
Cellular component
nucleolus;cytoplasm;microtubule organizing center;cytosol;intermediate filament;cell-cell adherens junction;centriolar satellite;keratin filament;perinuclear region of cytoplasm;extracellular exosome;cell periphery
Molecular function
RNA binding;structural molecule activity;protein binding;scaffold protein binding;cadherin binding involved in cell-cell adhesion