Gene Gene information from NCBI Gene database.
Entrez ID 3875
Gene name Keratin 18
Gene symbol KRT18
Synonyms (NCBI Gene)
CK-18CYK18K18
Chromosome 12
Chromosome location 12q13.13
Summary 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
miRNA miRNA information provided by mirtarbase database.
21
miRTarBase ID miRNA Experiments Reference
MIRT023274 hsa-miR-122-5p Proteomics 17612493
MIRT029677 hsa-miR-26b-5p Microarray 19088304
MIRT1101167 hsa-miR-1976 CLIP-seq
MIRT1101168 hsa-miR-370 CLIP-seq
MIRT1101169 hsa-miR-4757-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
BRCA1 Unknown 15831101
CTBP1 Unknown 15831101
SP1 Unknown 10094831;7537848
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 10852826, 10954706, 11684708, 14710194, 14756564, 15671067, 15731013, 15846844, 16189514, 16367866, 19549727, 20035625, 20936779, 21988832, 23112296, 24940650, 25416956, 25910212, 26769854, 26871637, 30021884, 31515488, 32296183, 32814053, 35271311, 36931259
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
148070 6430 ENSG00000111057
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05783
Protein name Keratin, type I cytoskeletal 18 (Cell proliferation-inducing gene 46 protein) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)
Protein 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 inv
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 79 391 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression observed in lymph nodes of breast carcinoma. {ECO:0000269|PubMed:17213200, ECO:0000269|PubMed:2422083, ECO:0000269|PubMed:2434380, ECO:0000269|PubMe
Sequence
Sequence length 430
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection
  Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cirrhosis, cryptogenic Pathogenic rs57758506 RCV000015686
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cirrhosis, noncryptogenic, susceptibility to Pathogenic rs57758506 RCV000015687
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cirrhosis, familial Uncertain significance ClinVar
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Hepatitis C virus, susceptibility to not provided ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 7689823
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11923318
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11955647, 17018615
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 29863745
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 28166367
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32833429 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 10381273, 22699783
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 16891808 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis LHGDN 15838910
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 12724528, 35029214 Associate
★☆☆☆☆
Found in Text Mining only