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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]
[中文简述(自动翻译):]  的阿信相关蛋白的Axin2,想必起着β-连环蛋白在Wnt信号通路的稳定性有重要的作用,就像它的啮齿动物同源,鼠标conductin /大鼠腋。在小鼠,conductin组织的APC的多蛋白复合物(结肠腺瘤性息肉病),β-连环蛋白,糖原合酶激酶-3-β,和conductin,这导致β-连环蛋白的降解。显然,β-连环蛋白的失调是在许多恶性肿瘤的发生的重要事件。该AXIN2基因已被定位于17q23-Q24,即示出了在乳腺癌,神经母细胞瘤,和其它肿瘤杂频繁损失的区域。在这个基因的突变已与有缺陷的错配修复结肠直肠癌有关。 [由RefSeq的,2008年7月提供]
AXIN2基因(以及对应的蛋白质)的细胞分布位置:
AXIN2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Oligodontia-Colorectal Cancer Syndrome | 0.360271442 | 1 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET |
Colorectal Neoplasms | 0.128173051 | 3 | 0 | CTD_human_LHGDN |
Colonic Neoplasms | 0.123538676 | 5 | 0 | BeFree_CTD_human_LHGDN |
Colon Carcinoma | 0.121900093 | 7 | 2 | BeFree_CLINVAR |
Neoplastic Syndromes, Hereditary | 0.12 | 0 | 0 | CLINVAR |
Malignant neoplasm of breast | 0.005819831 | 5 | 2 | BeFree_GAD |
Cleft Lip | 0.005091382 | 2 | 0 | GAD_LHGDN |
Colorectal Cancer | 0.005081451 | 11 | 1 | BeFree_GAD |
Hypodontia | 0.003528744 | 13 | 0 | BeFree |
Malignant neoplasm of lung | 0.003181358 | 4 | 1 | BeFree_GAD |
Medulloblastoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
melanoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Colorectal Carcinoma | 0.002985861 | 11 | 1 | BeFree |
Cleft Palate | 0.002909916 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of ovary | 0.002909916 | 3 | 9 | BeFree_GAD |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Cancer of Head and Neck | 0.002638474 | 2 | 1 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Mental Depression | 0.002367032 | 1 | 0 | GAD |
Hirschsprung Disease | 0.002367032 | 1 | 1 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Neuroblastoma | 0.002367032 | 1 | 1 | GAD |
Tooth Abnormalities | 0.002367032 | 1 | 0 | GAD |
Adenoma of large intestine | 0.002367032 | 1 | 0 | GAD |
Adenomatous Polyposis Coli | 0.002171535 | 8 | 0 | BeFree |
Malignant tumor of colon | 0.001357209 | 5 | 0 | BeFree |
Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
Hepatoblastoma | 0.001085767 | 4 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 1 | BeFree |
Ectodermal Dysplasia | 0.000542884 | 2 | 0 | BeFree |
Intestinal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 9 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Tooth Agenesis, Familial | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lupus Nephritis | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Cleft palate with cleft lip | 0.000271442 | 1 | 0 | BeFree |
Agenesis of corpus callosum | 0.000271442 | 1 | 1 | BeFree |
Adrenal Cortical Adenoma | 0.000271442 | 1 | 0 | BeFree |
Multiple polyps | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
Traditional Serrated Adenoma | 0.000271442 | 1 | 0 | BeFree |
Sessile Serrated Adenoma/Polyp | 0.000271442 | 1 | 0 | BeFree |
Orofacial cleft | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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