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This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
[中文简述(自动翻译):]  该基因编码的犰狳/β-连环蛋白超家族的胶粘结相关蛋白在大脑和眼睛发育和癌症的形成有关。由该基因编码的蛋白质促进基于E-钙粘蛋白粘附连接的破坏有利于细胞通过肝细胞生长因子刺激后蔓延。该基因在前列腺腺癌中过度表达,并与在该组织中的肿瘤抑制E-钙粘蛋白的表达降低有关。该基因位于5号染色体短臂即在插入Cri删除杜聊天综合征的区域。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2013年12月提供]
CTNND2基因(以及对应的蛋白质)的细胞分布位置:
CTNND2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cri-du-Chat Syndrome | 0.241085767 | 4 | 0 | BeFree_CTD_human_ORPHANET |
Amyotrophic Lateral Sclerosis | 0.12 | 1 | 1 | GWASCAT |
Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
Glioblastoma | 0.12 | 1 | 0 | CTD_human |
Monosomy 5p | 0.12 | 0 | 0 | ORPHANET |
Prostatic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Schizophrenia | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
Myopia | 0.005276948 | 4 | 2 | BeFree_GAD |
Myopia, Degenerative | 0.002638474 | 2 | 0 | BeFree_GAD |
Asthma | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Hematocrit level | 0.002367032 | 1 | 1 | GAD |
Fibrinogen Adverse Event | 0.002367032 | 1 | 1 | GAD |
Malignant neoplasm of prostate | 0.001900093 | 7 | 0 | BeFree |
Prostate carcinoma | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of lung | 0.001085767 | 4 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Severe myopia | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
Anxiety Disorders | 0.000271442 | 1 | 0 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Lung diseases | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pleural effusion disorder | 0.000271442 | 1 | 0 | BeFree |
Severe mental retardation (I.Q. 20-34) | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Cri du chat | 0.000271442 | 1 | 0 | BeFree |
Cortical cataract | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Learning Disabilities | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Cognitive changes | 0.000271442 | 1 | 0 | BeFree |
Lens Opacities | 0.000271442 | 1 | 0 | BeFree |
Autism Spectrum Disorders | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast cancer, lobular | 0.000271442 | 1 | 0 | BeFree |
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