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The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]
[中文简述(自动翻译):]  由该内含子基因编码的蛋白质属于紧密连接蛋白家族。 Claudins是整合膜蛋白是上皮细胞的紧密连接,它通过细胞旁空间调节溶质和离子的移动的部件。这种蛋白质是产气荚膜梭菌肠毒素(CPE)的高亲和力受体和产前和产后寿命期间可能在内部器官的发育和功能的作用。该基因的Williams-博伊伦综合征,影响多个系统的神经发育障碍被删除。 [由RefSeq的,2013年9月提供]
CLDN4基因(以及对应的蛋白质)的细胞分布位置:
CLDN4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Mammary Neoplasms | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Neoplasm Recurrence, Local | 0.12 | 1 | 0 | CTD_human |
Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
Invasive Ductal Breast Carcinoma | 0.12 | 1 | 0 | CTD_human |
Peptic Esophagitis | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Stomach Neoplasms | 0.010897401 | 4 | 0 | LHGDN |
Metaplasia | 0.0054487 | 2 | 0 | LHGDN |
Adenocarcinoma | 0.004624443 | 8 | 0 | BeFree_LHGDN |
Ovarian Carcinoma | 0.004614512 | 17 | 0 | BeFree |
Malignant neoplasm of ovary | 0.00434307 | 16 | 0 | BeFree |
Squamous cell carcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Neuroendocrine Tumors | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Liver carcinoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Carcinoma, Papillary | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Biliary Tract Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Carcinoid Tumor | 0.00272435 | 1 | 0 | LHGDN |
Carcinosarcoma | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Endometrial Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Carcinoma, Lobular | 0.00272435 | 1 | 0 | LHGDN |
ovarian neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Hyperplasia | 0.00272435 | 1 | 0 | LHGDN |
Neoplasm Metastasis | 0.002714419 | 10 | 0 | BeFree |
Pancreatic carcinoma | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of breast | 0.001628651 | 6 | 0 | BeFree |
Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
Stomach Carcinoma | 0.001085767 | 4 | 1 | BeFree |
Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
Prostate carcinoma | 0.000814326 | 3 | 0 | BeFree |
Epithelial ovarian cancer | 0.000814326 | 3 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000814326 | 3 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Endometriosis | 0.000542884 | 2 | 0 | BeFree |
Williams Syndrome | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
Ductal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
Cyst | 0.000271442 | 1 | 0 | BeFree |
Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
Experimental Autoimmune Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
Gastrointestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Hypercalcemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Ovarian Diseases | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Edema | 0.000271442 | 1 | 0 | BeFree |
Respiratory Syncytial Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Benign Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Neoplastic disease of uncertain behavior | 0.000271442 | 1 | 0 | BeFree |
Cystadenocarcinoma, Mucinous | 0.000271442 | 1 | 0 | BeFree |
Cystadenocarcinoma, Serous | 0.000271442 | 1 | 0 | BeFree |
Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Lobular carcinoma in situ of breast | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Apocrine metaplasia | 0.000271442 | 1 | 0 | BeFree |
Non-infiltrating lobular carcinoma | 0.000271442 | 1 | 0 | BeFree |
Intrahepatic Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Necrotizing Enterocolitis | 0.000271442 | 1 | 0 | BeFree |
Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Biliary Tract Cancer | 0.000271442 | 1 | 0 | BeFree |
AICARDI-GOUTIERES SYNDROME 1 | 0.000271442 | 1 | 0 | BeFree |
Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Ductal Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
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