KRT8

Gene Information
 
Gene Symbol
KRT8
 
Aliases
CARD2, CK-8, CK8, CYK8, K2C8, K8, KO
 
Entrez Gene ID
 
Gene Name
Keratin 8
 
Chromosomal Location
12q13.13
 
HGNC ID
 
Summary
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 dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0005634 Cellular component Nucleus HDA 21630459
GO:0005737 Cellular component Cytoplasm IDA 15846844, 19188445
GO:0005882 Cellular component Intermediate filament IDA 10852826
GO:0070062 Cellular component Extracellular exosome HDA 19199708, 23533145
GO:0005515 Molecular function Protein binding IPI 10852826, 10954706, 11684708, 12577067, 14756564, 15671067, 15731013, 15846844, 16608857, 19188445, 20936779, 21149639, 21988832, 22038833, 22458338, 25416956, 26769854, 30021884
Protein Information
 
Protein Name
Keratin, type II cytoskeletal 8, cytokeratin-8, keratin 8, type II, type-II keratin Kb8
 
Function
Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.
 
Refseq Proteins
 
UniProt
Pathways
 
Reactome
 

 

Keratinization
Formation of the cornified envelope

     

Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Liver Cirrhosis
Digestive System Diseases
Liver Cirrhosis
Liver Failure
Liver Fibrosis
Endocrine System Diseases
PCOS
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PGR, MMP2, MMP9,VIM 
Endometrial Decidualization  
 
Rotterdam Criteria 
Direct 
10 PCO patients and 10 Non-PCOS  
Metformin alleviated EP-induced decidualization of endometrial stromal cells by modulating secretion of multiple cytokines, inhibiting expression of MMP-2 and MMP-9, activating p38-MAPK signaling and reducing PGR expression, providing a deep insight into the molecular basis of metfromin therapy for PCOS patients 

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