Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 144501
Gene name Keratin 80
Gene symbol KRT80
Synonyms (NCBI Gene)
KB20
Chromosome 12
Chromosome location 12q13.13
Summary Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene`s expression profile shows that it encodes a type II epithelial keratin, alth
miRNA miRNA information provided by mirtarbase database.
812 Show/Hide all (812)
miRTarBase ID miRNA Experiments Reference
MIRT005257 hsa-miR-155-5p pSILAC 18668040
MIRT005257 hsa-miR-155-5p Proteomics;Other 18668040
MIRT025643 hsa-miR-7-5p Microarray 19073608
MIRT694856 hsa-miR-548a-3p HITS-CLIP 23313552
MIRT694855 hsa-miR-548ar-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14 Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IDA 20843789
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005882 Component Intermediate filament IDA 20843789
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611161 27056 ENSG00000167767
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6KB66
Protein name Keratin, type II cytoskeletal 80 (Cytokeratin-80) (CK-80) (Keratin-80) (K80) (Type-II keratin Kb20)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 82 → 393 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in tongue, but not skin or in any other tissues or organs examined. {ECO:0000269|PubMed:15737194}.
Sequence
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Keratinization
Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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 Reference Evidence Score
KRT80-related disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (17)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 31073170
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31073170 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 38241178 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30262880
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30262880, 36232922 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Epidermolysis Bullosa Simplex Epidermolysis bullosa Pubtator 7536183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 38241178 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hair Diseases Hair Diseases BEFREE 9241275
★★★★★
★☆☆☆☆
Found in Text Mining only
Hyperkeratosis Epidermolytic Epidermolytic hyperkeratosis Pubtator 7536183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Keratoderma Palmoplantar Epidermolytic Epidermolytic palmoplantar keratoderma Pubtator 7536183 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only