KRT4 (keratin 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3851
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT4
Synonyms (NCBI Gene) Gene synonyms aliases
CK-4, CK4, CYK4, K4, WSN1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs587776844 TTG>- Pathogenic Coding sequence variant, inframe deletion
rs587776845 ->TGT Pathogenic Coding sequence variant, inframe indel
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT017456 hsa-miR-335-5p Microarray 18185580
MIRT029264 hsa-miR-26b-5p Microarray 19088304
MIRT2027576 hsa-miR-1252 CLIP-seq
MIRT2027577 hsa-miR-3616-5p CLIP-seq
MIRT2027578 hsa-miR-3647-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ELF3 Repression 10773884
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17709412, 22458338, 25416956, 29892012, 30021884, 31391242, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus HDA 21630459
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123940 6441 ENSG00000170477
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P19013
Protein name Keratin, type II cytoskeletal 4 (Cytokeratin-4) (CK-4) (Keratin-4) (K4) (Type-II keratin Kb4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 14 → 147 Keratin type II head Family
PF00038 Filament 150 → 463 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix, vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the esophageal submucosa (at protein le
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Keratinization
Formation of the cornified envelope
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
White Sponge Nevus white sponge nevus 1 rs62642055, rs587776844, rs587776845 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leukokeratosis hereditary mucosal leukokeratosis N/A N/A GenCC
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35328735, 9930073
Barrett Esophagus Associate 35328735
Carcinoma Hepatocellular Associate 12679910
Carcinoma Squamous Cell Associate 21897749, 9930073
Carcinoma Squamous Cell Inhibit 24051697
Cardiomyopathy infantile histiocytoid Associate 19843013
Cholesteatoma Associate 25093596
Eosinophilic Esophagitis Inhibit 28104354
Esophageal Neoplasms Associate 10802067
Esophageal Squamous Cell Carcinoma Associate 17187659, 21498718