Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AXIN2 contributors: mct/shn - updated : 13-08-2012
HGNC name axin 2
HGNC id 904
Corresponding disease
FTACC familial tooth agenesis, colorectal cancer syndrome
Location 17q24.1      Physical location : 63.524.684 - 63.557.740
Synonym name
  • axin-2
  • axil
  • axis inhibitor 2
  • axin-like protein
  • axis inhibition protein 2
  • conductin
  • Synonym symbol(s) AXIL, DKFZp781B0869, MGC126582, MGC10366
    DNA
    TYPE functioning gene
    STRUCTURE 33.06 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • four Runx2 consensus binding sequences (i.e. ACCACA or TGTGGT ) in the AXIN2 promoter
  • MAPPING cloned Y linked N status confirmed
    Map cen - D17S1825 - D17S1792 - AXIN2 - D17S1882 - D17S1874 - qter
    Physical map
    CSHL1 17q23.3-q24.2 chorionic somatomammotropin hormone-like 1 GH1 17q24 growth hormone 1 CD79B 17q23 CD79B antigen (immunoglobulin-associated beta) SCN4A 17q23 sodium channel, voltage-gated, type IV, alpha ICAM2 17q23-q25 intercellular adhesion molecule 2 ERN1 16p12 ER to nucleus signalling 1 FLJ30999 17q24.2 hypothetical protein FLJ30999 HT008 17q24.2 uncharacterized hypothalamus protein HT008 LOC253013 17q24.2 similar to ribosomal protein L31 PECAM1 17q23 platelet/endothelial cell adhesion molecule (CD31 antigen) LOC284021 17q24.2 hypothetical protein LOC284021 POLG2 17q polymerase (DNA directed), gamma 2, accessory subunit DDX5 17q21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 LOC90799 17q24.2 hypothetical protein BC009518 SMURF2 17q22-q23 hypothetical protein BC009518 LOC388411 17 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC390807 17 hypothetical gene supported by AK097700 MGC40489 17q24 hypothetical protein MGC40489 LOC388412 17 LOC388412 KIAA0563 17q24.2 LOC388412 LOC390808 17 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 LOC284020 17q24.2 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 FLJ32065 17q24.2 hypothetical protein FLJ32065 GNA13 17q24 guanine nucleotide binding protein (G protein), alpha 13 RGS9 17q24 regulator of G-protein signalling 9 AXIN2 17q23-q24 axin 2 (conductin, axil) MGC33887 17q24.2 hypothetical protein MGC33887 LOC280637 17q24.2 proteasome 26S non-ATPase subunit 7 pseudogene APOH 17q23.2 apolipoprotein H (beta-2-glycoprotein I) PRKCA 17q22-q23.2 protein kinase C, alpha CACNG5 17q24 calcium channel, voltage-dependent, gamma subunit 5 CACNG4 17q24 calcium channel, voltage-dependent, gamma subunit 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4241 - 843 - Mai (1999)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly Homo sapiens
     intestinelarge intestinecolon lowly Homo sapiens
    Endocrineadrenal gland   moderately
     parathyroid   moderately
    Lymphoid/Immunethymus   highly Homo sapiens
    Nervousnerve   highly
    Reproductivefemale systemovary  highly Homo sapiens
     male systemtestis  highly Homo sapiens
     male systemprostate  highly Homo sapiens
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage immature oligodendrocyte progenitor cells in white matter lesions of human newborns with neonatal hypoxic-ischemic and gliotic brain damage (
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period embryo
    Text embryonic tissue
    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