KRT14 (keratin 14)

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.
3861
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT14
Synonyms (NCBI Gene) Gene synonyms aliases
CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4, K14, NFJ
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskele
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(30)
SNP ID Visualize variation Clinical significance Consequence
rs28928893 A>G Pathogenic, not-provided Missense variant, coding sequence variant
rs56974573 CCT>- Pathogenic, not-provided Inframe deletion, coding sequence variant
rs57121345 T>G Pathogenic, not-provided Missense variant, coding sequence variant
rs57278315 GC>- Pathogenic, not-provided Frameshift variant, coding sequence variant
rs57358989 C>T Pathogenic, not-provided Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT023065 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023354 hsa-miR-122-5p Microarray 17612493
MIRT1101140 hsa-miR-4722-5p CLIP-seq
MIRT1101141 hsa-miR-4768-3p CLIP-seq
MIRT1101142 hsa-miR-635 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
SMAD7 Repression 15023526
SP1 Repression 22911849
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(31)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0002009 Process Morphogenesis of an epithelium IBA
GO:0005198 Function Structural molecule activity IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 7525408
GO:0005515 Function Protein binding IPI 10852826, 11684708, 15671067, 15731013, 22705788, 24940650, 27798626, 30021884, 31995743, 32296183, 33961781
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
148066 6416 ENSG00000186847
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P02533
Protein name Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)
Protein function The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
PDB 3TNU , 6JFV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 114 → 425 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stra
Sequence
Sequence length 472
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
  KEGG   Reactome
  Estrogen signaling pathway
Staphylococcus aureus infection 		  Type I hemidesmosome assembly
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 (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Epidermolysis Bullosa Simplex Epidermolysis bullosa simplex, Koebner type, epidermolysis bullosa simplex, Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive rs58380626, rs267607389, rs58560979, rs60399023, rs57364972, rs59442925, rs61371557, rs58762773, rs58357841, rs57278315, rs60090257, rs58330629, rs60171927, rs60338701, rs60231560
View all (14 more)		 N/A
Dermatopathia Pigmentosa Reticularis dermatopathia pigmentosa reticularis rs60831116, rs58330629, rs61263401 N/A
Show/Hide Text Mining Associations (105)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32861330
Acute Disease Associate 24335474
Adenocarcinoma Associate 9930073
Adenocarcinoma of Lung Associate 38240936
Allergic Fungal Sinusitis Stimulate 21177983
Ameloblastoma Associate 28390135
Angina Unstable Associate 35437049
Anus Neoplasms Associate 20563874
Arthritis Psoriatic Associate 29784039
Astrocytoma Associate 17217540