Gene: AXIN2

Alternate names for this Gene: AXIL|ODCRCS

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.1

Description of this Gene: axin 2

Type of Gene: protein-coding

rs12452505 in AXIN2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs121908568 in AXIN2 gene and Oligodontia-Colorectal Cancer Syndrome PMID 15042511 2004 Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

PMID 22581971 2012 Mutations in WNT10A are present in more than half of isolated hypodontia cases.

PMID 27090353 2016 Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.

PMID 21416598 2011 AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.