Axis Inhibition Protein 2 (AXIN2)

Axil; Conductin; Axin Related Protein; Axin-like protein

SPN	U652
HGNC	904
MGI	1270862
PubMed	19119171
RGD	69259
UniProt	Q9Y2T1
Wiki	AXIN2

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.

Reference

"Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24."
Genomics 55:341-344(1999) [PubMed] [Europe PMC] [Abstract]

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling."
Nat. Genet. 26:146-147(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer."
Am. J. Hum. Genet. 74:1043-1050(2004) [PubMed] [Europe PMC] [Abstract]

"Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia."
EMBO J. 25:1646-1658(2006) [PubMed] [Europe PMC] [Abstract]

"Tankyrase inhibition stabilizes axin and antagonizes Wnt signalling."
Nature 461:614-620(2009) [PubMed] [Europe PMC] [Abstract]

"The Ubiquitin specific protease USP34 regulates Axin stability and Wnt/beta-catenin signaling."
Mol. Cell. Biol. 31:2053-2065(2011) [PubMed] [Europe PMC] [Abstract]

"RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling."
Nat. Cell Biol. 13:623-629(2011) [PubMed] [Europe PMC] [Abstract]

"Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population."
Int. J. Mol. Med. 18:279-284(2006) [PubMed] [Europe PMC] [Abstract]