AXIN2 Chromosome 17
Axin 2
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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 |
|---|---|---|---|
| RS2144475422 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144540259 | Health Risk | Likely pathogenic | Colorectal cancer, Oligodontia-cancer predisposition syndrome, Colorectal cancer |
| RS2144540270 | Health Risk | Likely pathogenic | Colorectal cancer, Colorectal cancer |
| RS2144589643 | Health Risk | Likely pathogenic | AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis |
| RS2509396878 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509397361 | Health Risk | Likely pathogenic | Colorectal cancer, Colorectal cancer |
| RS2509397598 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509401757 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509410958 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544195997 | Health Risk | Likely pathogenic | Colorectal cancer, Colorectal cancer |
| RS2544196005 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544197107 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544248410 | Health Risk | Likely pathogenic | Colorectal cancer, Colorectal cancer |
| RS75747149 | Health Risk | Likely pathogenic | Colorectal cancer, Colorectal cancer |
| RS911977110 | Health Risk | Likely pathogenic | AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis |
| RS1056103847 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS121908567 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS121908568 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1299440644 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1301294410 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1428503249 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555577121 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555577613 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555577625 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555578459 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1555583659 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1567755946 | Health Risk | Pathogenic | Colorectal cancer, Oligodontia, Oligodontia-cancer predisposition syndrome |
| RS1567769335 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598093952 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598097196 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598104209 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598118962 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1598119841 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1598119889 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2043866331 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2043899828 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2043915274 | Health Risk | Pathogenic | AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis |
| RS2043947540 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2043961707 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2044294792 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2044303218 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2044308192 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144419495 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144433886 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144440026 | Health Risk | Pathogenic | AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144440894 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144441207 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144443827 | Health Risk | Pathogenic | AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144448744 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2144455707 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |