AXIN2 Chromosome 17
Axin 2
Upload your DNA to see your personal genotypes for variants in AXIN2.
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 |
|---|---|---|---|
| RS2144588406 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144589016 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144592269 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS2509396464 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2509397080 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2509409153 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2509418496 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2544183326 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS2544197112 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS367725839 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS368289818 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS368525111 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS368610577 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS368798367 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS370257532 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS370503213 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS370549410 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS370618491 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS370765600 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS371878937 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS373339394 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS373911689 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS375603095 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS375952649 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS376052287 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS376248072 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS376630432 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS376726966 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS376936740 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS377423720 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS527766429 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS529954883 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS530465133 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS534983760 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS544255284 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS547630327 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS565020131 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS567413750 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS567511335 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS570443161 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS571713474 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS578156841 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS587780123 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS62640025 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS62640027 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS62640028 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS730881396 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS730881400 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS74006838 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS745555433 | Health Risk | Conflicting classifications of pathogenicity | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |