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 |
|---|---|---|---|
| RS2144456484 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144456730 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144457222 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144460694 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144462978 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144463053 | Health Risk | Pathogenic | — |
| RS2144465819 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144499916 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144581824 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144582634 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144582778 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144585275 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2144587770 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144587960 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144589420 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144589822 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144592396 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2483708247 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509389560 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509389582 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509396943 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509397413 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509402115 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509402190 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509402279 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509402361 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509402390 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509402624 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2509403513 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509407247 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509409036 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509409059 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509412566 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509413024 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509414042 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509414313 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509414713 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509414761 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509414978 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2509416268 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509416620 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509416773 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2509417045 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2509417609 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544196558 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544218285 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544218536 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544247385 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544247794 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544248961 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |