AXIN2 gene

axin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.

From NCBI Gene:

  • Oligodontia-colorectal cancer syndrome

From UniProt:

Colorectal cancer (CRC): A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. [MIM:114500]

Oligodontia-colorectal cancer syndrome (ODCRCS): Affected individuals manifest severe tooth agenesis and colorectal cancer or precancerous lesions of variable types. [MIM:608615]

Cytogenetic Location: 17q24.1, which is the long (q) arm of chromosome 17 at position 24.1

Molecular Location: base pairs 65,528,563 to 65,561,622 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q24.1, which is the long (q) arm of chromosome 17 at position 24.1
  • AXIL
  • ODCRCS