KRT13 (keratin 13)

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.
3860
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT13
Synonyms (NCBI Gene) Gene synonyms aliases
CK13, K13, WSN2
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.
The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type
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
rs59897026 A>G Pathogenic, not-provided Missense variant, coding sequence variant
rs60440396 A>G 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(3)
miRTarBase ID miRNA Experiments Reference
MIRT2027555 hsa-miR-326 CLIP-seq
MIRT2027556 hsa-miR-330-5p CLIP-seq
MIRT2027557 hsa-miR-4279 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
NR1H4 Activation 21619550
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(18)
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IBA
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 25910212, 26871637, 31515488, 32296183, 36217029
GO:0005634 Component Nucleus HDA 21630459
GO:0005829 Component Cytosol 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
148065 6415 ENSG00000171401
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P13646
Protein name Keratin, type I cytoskeletal 13 (Cytokeratin-13) (CK-13) (Keratin-13) (K13)
Protein function Type 1 keratin (Probable). Maintains postnatal tongue mucosal cell homeostasis and tissue organization in response to mechanical stress, potentially via regulation of the G1/S phase cyclins CCNE1 and CCNE2 (By similarity). {ECO:0000250|UniProtKB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 103 → 415 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in some epidermal sweat gland ducts (at protein level) and in exocervix, esophagus and placenta. {ECO:0000269|PubMed:2483837}.
Sequence
Sequence length 458
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 		  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 2 rs60440396, rs59897026 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 (57)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32861330
Adenocarcinoma Associate 9930073
Adenoma Pleomorphic Associate 25076852
Arthritis Psoriatic Associate 15191548
Breast Neoplasms Associate 18951949
Carcinogenesis Associate 17957251
Carcinoma Basal Cell Associate 16415791
Carcinoma in Situ Associate 22301701
Carcinoma in Situ Inhibit 26225699
Carcinoma Mucoepidermoid Associate 20614291