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FLASH GENE
Symbol AXIN2 contributors: mct/shn - updated : 13-08-2012
HGNC name axin 2
HGNC id 904
ASSOCIATED DISORDERS
corresponding disease(s) FTACC
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in breast cancer, neuroblastoma and others tumors
tumoral   amplification    
colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling (
tumoral   LOH    
in hepatocellular, colorectal and ovarian carcinoma
tumoral somatic mutation      
in hepatocellular carcinoma and hepatoblastoma
tumoral       loss of function
in colon cancer
tumoral        
frameshift mutations are common in gastric carcinoma with high microsatellite instability (MSI) and may contribute to development of gastric cancers with high MSI by deregulating the Wnt signaling in the affected cancer cells (
Susceptibility
  • epigenetic silencing of AXIN2 is specifically associated with carcinogenesis in microsatellite instability + colorectal carcinomas (
  • Variant & Polymorphism SNP
  • two SNPs might be related to Hirschsprung disease (Zhonghua 2008)
  • Candidate gene strong candidate in multiple tumor types
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurology  
    an essential regulator of remyelination and that it might serve as a pharmacological checkpoint in this process
    ANIMAL & CELL MODELS
    disruption of Axin2 in mice induces skeletal defects, a phenotype resembling craniosynostosis in humans