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FLASH GENE
Symbol AXIN2 contributors: mct/shn - updated : 13-08-2012
HGNC name axin 2
HGNC id 904
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal regulation of G protein signaling (RGS)
  • the GSK and the beta catenin binding domains
  • a dishevelled (DSH/DIX) homology domain
  • conjugated PhosphoP
    mono polymer homomer , heteromer , oligo
    HOMOLOGY
    interspecies ortholog to axin2, Danio rerio
    ortholog to Axin2, Rattus norvegicus
    ortholog to Axin2, Mus musculus
    intraspecies homolog to AXIN1
    Homologene
    FAMILY
    CATEGORY chaperone/stress , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text located to centrosome by binding to CEP250 (Hadjihannas 2010)
    basic FUNCTION
  • promoting the GSK3B dependent phosphorylation of beta catenin (CTNNB1)
  • negatively regulates both expansion of osteoprogenitors and maturation of osteoblasts through its modulation on Wnt/beta-catenin signaling
  • promotes centrosome cohesion by phosphorylating CTNNB1 at centrosomes (Hadjihannas 2010)
  • negative regulator of beta-catenin, localizes at the centrosomes by binding to the centriole-associated component CEP250
  • essential for normal kinetics of remyelination (
  • serves as a negative regulator of canonical WNT signaling in normal cells
  • tumor suppressor function of AXIN2 in normal cells is most likely coopted by cancer cells to promote, rather than suppress, key aspects of the cancer progression program
  • RUNX2 and AXIN2 regulate craniofacial development and skeletal maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    negative regulator of the signaling Wnt pathway through interaction with GSK3B and beta catenin
    a component
  • complex of APC, beta catenin, GSK3B
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • glycogen synthase kinase 3beta and beta-catenin (
  • adenomatous polyposis coli and Smad3 (
  • acts as a potent promoter of carcinoma behavior by up-regulating the activity of the transcriptional repressor, SNAI1, inducing a functional epithelial-mesenchymal transition (EMT) program and driving metastatic activity
  • FOXM1 directly bound to and increased transcriptional activity of the AXIN2 promoter region
  • RUNX2 binds several regions of the AXIN2 promoter and RUNX2-mediated repression of AXIN2 transcription depends on HDAC3
  • cell & other
    REGULATION
    repressed by RUNX2, HDAC3, that repress AXIN2 transcription in osteoblasts
    Other phosphorylated by GSK3B and dephosphorylated by PP2A
    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