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 |
|---|---|---|---|
| RS1009574694 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1037067658 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1048485136 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1053887162 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1057520237 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1057522521 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1057522718 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1057524787 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060502131 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1060502139 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1060502155 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS1060502157 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1060504478 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1060504482 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1060504494 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1064794048 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1064795980 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1157452251 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS115931022 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1162424416 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS117688560 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Malignant tumor of breast |
| RS1207102247 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS1229801064 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1245915542 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1247563219 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1248714399 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1250017056 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1265240757 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1268443604 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1275134450 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1287639468 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1301940236 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1305562386 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1310922131 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1318855105 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1330131800 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1332790715 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1341498392 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1344107562 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1353761854 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1367633896 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS137933764 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS138056036 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS138287857 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Colorectal cancer, Aganglionic megacolon |
| RS1390389867 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS139209450 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS1393284650 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS139871607 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia, Colorectal cancer |
| RS1399979602 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS1402235122 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |