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 |
|---|---|---|---|
| RS2544249018 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544249496 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544249780 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544250350 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544250881 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544251507 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544252448 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544252708 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544252847 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544253193 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544253595 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544254066 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544254111 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544254203 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544254746 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544254960 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544256340 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS267606674 | Health Risk | Pathogenic | Carcinoma of colon, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS367624903 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome |
| RS552141978 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS730882193 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis, Hereditary cancer-predisposing syndrome |
| RS752881223 | Health Risk | Pathogenic | Non-syndromic oligodontia, Non-syndromic oligodontia |
| RS753803824 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS770254456 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS771001164 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Neoplasm, Oligodontia-cancer predisposition syndrome |
| RS781384784 | Health Risk | Pathogenic | Oligodontia-cancer predisposition syndrome, Colorectal cancer, Hereditary cancer-predisposing syndrome |
| RS1458077502 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, AXIN2-related disorder, Oligodontia-cancer predisposition syndrome |
| RS2043913790 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2144419566 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144440630 | Health Risk | Pathogenic/Likely pathogenic | AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144477057 | Health Risk | Pathogenic/Likely pathogenic | Colorectal cancer, Oligodontia-cancer predisposition syndrome, Colorectal cancer |
| RS2144500829 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, Colorectal cancer, Oligodontia-cancer predisposition syndrome |
| RS2509389531 | Health Risk | Pathogenic/Likely pathogenic | AXIN2-related disorder, Hereditary cancer-predisposing syndrome, AXIN2-related disorder |
| RS2544255457 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, Colorectal cancer, Oligodontia-cancer predisposition syndrome |
| RS746837986 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, Colorectal cancer, Hereditary cancer-predisposing syndrome |
| RS752865337 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, AXIN2-related disorder, Hereditary cancer-predisposing syndrome |
| RS759917468 | Health Risk | Pathogenic/Likely pathogenic | Colorectal cancer, Oligodontia-cancer predisposition syndrome, Colorectal cancer |
| RS761870581 | Health Risk | Pathogenic/Likely pathogenic | Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |