AXIN2 (Entrez ID: 8313)

Entrez Gene ID 8313
Official Gene Symbol AXIN2 (GeneCards)
Full name axin 2
Location 17q24.1
Other ids Vega : OTTHUMG00000179353
MIM : 604025
HGNC : HGNC:904
Ensembl : ENSG00000168646
Other names AXIL, ODCRCS
Summary The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]

Variants

Found 2 variants in this database.