KRT13 (keratin 13)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3860
Gene name Keratin 13
Gene symbol KRT13
Synonyms (NCBI Gene)
CK13K13WSN2
Chromosome 17
Chromosome location 17q21.2
Summary 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.
2
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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NR1H4 Activation 21619550
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
148065 6415 ENSG00000171401
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
White sponge nevus 2 Pathogenic rs60440396, rs59897026 RCV000015734
RCV000116204
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
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
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KRT13-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (67)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 16949723
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11141476
★★★★★
★☆☆☆☆
Found in Text Mining only
ADRENOCORTICAL CARCINOMA, HEREDITARY Adrenocortical carcinoma BEFREE 11141476
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 15191548 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18951949, 27835867
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18951949 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 17957251 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 16415791 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma in Situ Carcinoma in situ Pubtator 22301701 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma in Situ Carcinoma in situ Pubtator 26225699 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only