Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3856
Gene name Gene Name - the full gene name approved by the HGNC.
Keratin 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KRT8
Synonyms (NCBI Gene) Gene synonyms aliases
CARD2, CK-8, CK8, CYK8, K2C8, K8, KO
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.
This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dime
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11554495 C>A Not-provided, pathogenic, risk-factor Coding sequence variant, missense variant, non coding transcript variant
rs57749775 A>G,T Not-provided, risk-factor, pathogenic, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019995 hsa-miR-375 Microarray 20215506
MIRT030226 hsa-miR-26b-5p Microarray 19088304
MIRT498607 hsa-miR-4779 PAR-CLIP 24398324
MIRT498606 hsa-miR-3929 PAR-CLIP 24398324
MIRT498605 hsa-miR-4419b PAR-CLIP 24398324
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10852826, 10954706, 11684708, 12577067, 14756564, 15671067, 15731013, 15846844, 16608857, 19188445, 20936779, 21149639, 21988832, 22038833, 22458338, 24940650, 25416956, 26769854, 30021884, 31515488, 32296183, 32814053, 36012204
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IEA
GO:0005737 Component Cytoplasm IDA 15846844, 19188445
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
148060 6446 ENSG00000170421
Protein
UniProt ID P05787
Protein name Keratin, type II cytoskeletal 8 (Cytokeratin-8) (CK-8) (Keratin-8) (K8) (Type-II keratin Kb8)
Protein function Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.
PDB 7K3C , 7K3X , 7K3Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16208 Keratin_2_head 6 87 Keratin type II head Family
PF00038 Filament 90 401 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the oral cavity. {ECO:0000269|PubMed:10
Sequence
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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)
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
inflammatory bowel disease Inflammatory bowel disease N/A N/A ClinVar
Pancreatic adenocarcinoma Pancreatic ductal adenocarcinoma N/A N/A GWAS
Prostate cancer Prostate cancer, Prostate cancer (late onset) N/A N/A GWAS
Sick Sinus Syndrome Sick sinus syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 32861330, 35637421
Adenocarcinoma Associate 11923318, 15710986, 35328735
Adenocarcinoma of Lung Associate 12192603, 2414994, 30634629, 32519739, 34323652, 36311801
Ameloblastoma Associate 12013821
Ascites Associate 8946143
Barrett Esophagus Associate 35328735
Breast Neoplasms Associate 14556659, 17605300, 19050795, 19845941, 21425134, 24489661, 25724181, 26769854, 29884220, 30732163, 8946143, 9786916
Cancer Pain Associate 21425134
Cap Myopathy Associate 26090004
Carcinoma Associate 21960693