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 |
|---|---|---|---|
| RS745659837 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS746239590 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS748005374 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS748143308 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS748632114 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS748754551 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS749012756 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS749487037 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS749846538 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS750126379 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS751216221 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS751548566 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS751781253 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS752081909 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS753036084 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS753049092 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS753137017 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS753824435 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS754506970 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS755206242 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS755508971 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS755519590 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Tooth agenesis |
| RS755551294 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS755990979 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS756185275 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS756419208 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS757512425 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS759128363 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS759551291 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS760074335 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS760217787 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS760667639 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS761849564 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS761978806 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS762082964 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS762279806 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS763012548 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS763027598 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS764140840 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS765149006 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS765336893 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS765845684 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS766170422 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS766935285 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS767503380 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS768265778 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis, Hereditary cancer-predisposing syndrome |
| RS768626471 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS768793839 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS770206565 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS770763142 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |