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 |
|---|---|---|---|
| RS772490357 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS772550463 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS772748458 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS772888193 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS772908702 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS773033390 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS774353403 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS774887154 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS774932064 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS775207779 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS775217472 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS775783026 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related attenuated familial adenomatous polyposis |
| RS777186938 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS777699064 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS777885192 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS778332146 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS778612433 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS778710067 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS778840560 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS780143881 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS780472818 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS781309325 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS781560435 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS781570454 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS8081536 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS876660965 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS878854722 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854723 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854725 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854727 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854729 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854730 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854731 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854735 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS878854736 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS886041138 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS886053272 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS917901663 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS922684515 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS943374156 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS969592225 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1309148182 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1357170855 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2043981878 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2044041935 | Health Risk | Likely pathogenic | — |
| RS2144438870 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144457016 | Health Risk | Likely pathogenic | AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144461122 | Health Risk | Likely pathogenic | AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144463649 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2144468895 | Health Risk | Likely pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |