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This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因是从钙粘蛋白家族一个经典钙粘蛋白。所编码的蛋白质是由五个细胞外钙粘蛋白重复序列??,一个跨膜区和一个高度保守的胞质尾钙依赖性细胞 - 细胞粘着的糖蛋白。该基因位于六钙粘蛋白簇中的一个区域16号染色体的长臂即参与在乳腺癌和前列腺癌的杂合的事件的损失。此外,此蛋白的异常表达在宫颈腺癌是观察。在这种基因突变已与少年黄斑营养不良先天性少毛症相关联。 [由RefSeq的,2008年7月提供]
CDH3基因(以及对应的蛋白质)的细胞分布位置:
CDH3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy | 0.480542884 | 2 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Ulcerative Colitis | 0.122367032 | 1 | 0 | CTD_human_GAD |
Ovarian Cysts | 0.12 | 1 | 0 | CTD_human |
Squamous cell carcinoma | 0.008444493 | 4 | 0 | BeFree_LHGDN |
Mammary Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Hypotrichosis | 0.004895885 | 8 | 0 | BeFree_LHGDN |
Colorectal Cancer | 0.003452799 | 5 | 0 | BeFree_GAD |
melanoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Adenocarcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Adenoma | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Endometriosis | 0.00272435 | 1 | 0 | LHGDN |
Mucoepidermoid Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Age related macular degeneration | 0.002442977 | 9 | 1 | BeFree |
Hereditary macular dystrophy | 0.002442977 | 9 | 1 | BeFree |
Macular dystrophy | 0.002442977 | 9 | 1 | BeFree |
Diabetes Mellitus | 0.002367032 | 1 | 1 | GAD |
Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Ectrodactyly | 0.000271442 | 1 | 0 | BeFree |
Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
invasive cancer | 0.000271442 | 1 | 0 | BeFree |
Flat adenoma | 0.000271442 | 1 | 0 | BeFree |
Adenoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Split-Hand/Foot Malformation | 0.000271442 | 1 | 0 | BeFree |
Split hand foot deformity 1 | 0.000271442 | 1 | 0 | BeFree |
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