AXIN2 Chromosome 17
Axin 2
Upload your DNA to see your personal genotypes for variants in AXIN2.
What This Gene Does
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]
Associated Conditions (22)
Oligodontia-cancer predisposition syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
AXIN2-related disorder
Malignant tumor of breast
Ovarian cancer
Aganglionic megacolon
Oligodontia
Carcinoma of colon
Tooth agenesis
selective
1
Colorectal carcinoma
Gastric cancer
Hereditary cancer
AXIN2-related attenuated familial adenomatous polyposis
Thyroid cancer
nonmedullary
Ectodermal dysplasia
Medulloblastoma WNT activated
+2 more conditions
Key Variants
RS1009574694
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1037067658
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1048485136
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1053887162
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1057520237
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1057522521
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1057522718
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1057524787
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060502131
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
RS1060502139
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer
Health Risk
RS1060502155
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder
Health Risk
RS1060502157
Conflicting classifications of pathogenicity
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
Health Risk
All Variants (438)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140344858 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, AXIN2-related disorder |
| RS140510381 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Malignant tumor of breast, Hereditary cancer-predisposing syndrome |
| RS1405864888 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS1405985775 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS141260153 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS141608578 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS141699123 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS1421324764 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS142476324 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS143243661 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS143571197 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1439853340 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1443332884 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS144788470 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Colorectal cancer |
| RS145007501 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Oligodontia |
| RS1454163044 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS145717795 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1460508423 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS146238336 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS146249973 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS1467193033 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS146744662 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1470769065 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS147716924 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS1478720065 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS148419444 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS1486551074 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS148691166 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS148765149 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS1489180181 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS148951121 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS149000772 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS149764887 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS150557228 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555577337 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555577413 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555577433 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1555577565 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555577797 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555578122 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1555581184 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1555583470 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555583686 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555583743 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Colorectal cancer, Hereditary cancer-predisposing syndrome |
| RS1555583744 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1567754914 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1567769197 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598089930 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598090060 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1598090074 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |