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This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
[中文简述(自动翻译):]  该基因编码一个pentaspan跨膜糖蛋白。该蛋白质定位于膜的突起和通常对成体干细胞,在那里它被认为在通过抑制分化维持干细胞特性的功能表达。在这种基因突变已显示导致色素性视网膜炎和斯塔加特病。该基因的表达也与几种类型的癌症相关联。此基因来自至少五个被以依赖于组织的方式表达的备选启动子表达。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2009年03月提供]
PROM1基因(以及对应的蛋白质)的细胞分布位置:
PROM1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Bull's eye macular dystrophy | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Stargardt disease 4 | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
CONE-ROD DYSTROPHY 12 (disorder) | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
RETINITIS PIGMENTOSA 41 (disorder) | 0.32 | 0 | 3 | CLINVAR_CTD_human_MGD |
Glioblastoma | 0.143645237 | 59 | 0 | BeFree_CTD_human_LHGDN |
Colonic Neoplasms | 0.128987376 | 7 | 0 | BeFree_CTD_human_LHGDN |
Colorectal Neoplasms | 0.123267234 | 4 | 0 | BeFree_CTD_human_LHGDN |
Retinitis Pigmentosa | 0.121357209 | 5 | 0 | BeFree_ORPHANET |
Dental caries | 0.12 | 1 | 1 | GWASCAT |
Uterine Neoplasms | 0.12 | 1 | 0 | CTD_human |
Mixed Tumor, Mullerian | 0.12 | 1 | 0 | CTD_human |
Stargardt's disease | 0.12 | 0 | 0 | ORPHANET |
Diabetes Mellitus | 0.08 | 1 | 0 | RGD |
Glioma | 0.019292236 | 53 | 0 | BeFree_LHGDN |
Liver carcinoma | 0.0127677 | 38 | 0 | BeFree_LHGDN |
Brain Neoplasms | 0.00979177 | 17 | 0 | BeFree_LHGDN |
Colon Carcinoma | 0.009771907 | 36 | 0 | BeFree |
Malignant tumor of colon | 0.009500466 | 35 | 0 | BeFree |
Colorectal Cancer | 0.009229024 | 34 | 0 | BeFree |
Colorectal Carcinoma | 0.008957582 | 33 | 0 | BeFree |
leukemia | 0.005710211 | 12 | 0 | BeFree_LHGDN |
Adenocarcinoma | 0.004895885 | 8 | 0 | BeFree_LHGDN |
Liver neoplasms | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Neuroblastoma | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Carcinogenesis | 0.004885954 | 18 | 0 | BeFree |
Neoplasm Metastasis | 0.004614512 | 17 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.004071628 | 15 | 0 | BeFree |
Malignant neoplasm of lung | 0.004071628 | 15 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.004071628 | 15 | 0 | BeFree |
Malignant neoplasm of liver | 0.004071628 | 15 | 0 | BeFree |
Carcinoma of lung | 0.004071628 | 15 | 0 | BeFree |
Age related macular degeneration | 0.003538676 | 3 | 1 | BeFree_LHGDN |
Ovarian Carcinoma | 0.003528744 | 13 | 0 | BeFree |
Malignant neoplasm of ovary | 0.003257302 | 12 | 0 | BeFree |
Seminoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Muscular Dystrophy, Duchenne | 0.00272435 | 1 | 0 | LHGDN |
Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Severe Combined Immunodeficiency | 0.002714419 | 10 | 0 | BeFree |
Malignant neoplasm of prostate | 0.002714419 | 10 | 0 | BeFree |
Pancreatic carcinoma | 0.002442977 | 9 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.002442977 | 9 | 0 | BeFree |
Prostate carcinoma | 0.002442977 | 9 | 0 | BeFree |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Cancer of Head and Neck | 0.002367032 | 1 | 0 | GAD |
Fibrinogen Adverse Event | 0.002367032 | 1 | 1 | GAD |
melanoma | 0.002171535 | 8 | 0 | BeFree |
Tumor Progression | 0.002171535 | 8 | 0 | BeFree |
Central neuroblastoma | 0.002171535 | 8 | 0 | BeFree |
Glioblastoma Multiforme | 0.002171535 | 8 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.001900093 | 7 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.001900093 | 7 | 0 | BeFree |
Malignant neoplasm of stomach | 0.001900093 | 7 | 0 | BeFree |
Medulloblastoma | 0.001900093 | 7 | 0 | BeFree |
Squamous cell carcinoma | 0.001628651 | 6 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.001628651 | 6 | 0 | BeFree |
Solid tumour | 0.001628651 | 6 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.001628651 | 6 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.001628651 | 6 | 0 | BeFree |
Stomach Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Small cell carcinoma of lung | 0.001357209 | 5 | 0 | BeFree |
Malignant Glioma | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
Hemangioma | 0.001085767 | 4 | 0 | BeFree |
Gastrointestinal Stromal Tumors | 0.001085767 | 4 | 0 | BeFree |
Tumor Initiation | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.001085767 | 4 | 0 | BeFree |
Rectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
synovial sarcoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of brain | 0.000814326 | 3 | 0 | BeFree |
Cholangiocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Gallbladder Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Endometrial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Thyroid carcinoma | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of larynx | 0.000814326 | 3 | 0 | BeFree |
Atypical teratoid/rhabdoid tumor | 0.000814326 | 3 | 0 | BeFree |
Primary Glioblastoma | 0.000814326 | 3 | 0 | BeFree |
Tumor Angiogenesis | 0.000814326 | 3 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000542884 | 2 | 0 | BeFree |
Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Ependymoma | 0.000542884 | 2 | 0 | BeFree |
Herpes Simplex Infections | 0.000542884 | 2 | 0 | BeFree |
Von Hippel-Lindau Syndrome | 0.000542884 | 2 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
Paraganglioma | 0.000542884 | 2 | 0 | BeFree |
Retinal Degeneration | 0.000542884 | 2 | 0 | BeFree |
Rhabdomyosarcoma | 0.000542884 | 2 | 0 | BeFree |
Acute leukemia | 0.000542884 | 2 | 0 | BeFree |
Medullary carcinoma of thyroid | 0.000542884 | 2 | 0 | BeFree |
Residual Cancer | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of colon | 0.000542884 | 2 | 0 | BeFree |
Hereditary macular dystrophy | 0.000542884 | 2 | 1 | BeFree |
Multiple malignancy | 0.000542884 | 2 | 0 | BeFree |
Recurrent tumor | 0.000542884 | 2 | 0 | BeFree |
Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
Progressive Neoplastic Disease | 0.000542884 | 2 | 0 | BeFree |
Macular dystrophy | 0.000542884 | 2 | 1 | BeFree |
Malignant neoplasm of kidney | 0.000542884 | 2 | 0 | BeFree |
Retinal Dystrophies | 0.000542884 | 2 | 1 | BeFree |
Rhabdoid Tumor of the Kidney | 0.000542884 | 2 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Epithelioma | 0.000542884 | 2 | 0 | BeFree |
Renal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Neoplasms, Intracranial | 0.000542884 | 2 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000542884 | 2 | 0 | BeFree |
Uterine Corpus Cancer | 0.000542884 | 2 | 0 | BeFree |
Coronary Artery Disease | 0.000542884 | 2 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Progressive cGVHD | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Anaplasia | 0.000271442 | 1 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of larynx | 0.000271442 | 1 | 0 | BeFree |
Cholera | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Hepatitis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Polycystic Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Leukoplakia, Oral | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Lymphatic Metastasis | 0.000271442 | 1 | 0 | BeFree |
Macular degeneration | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
Malaria, Cerebral | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Nodule | 0.000271442 | 1 | 0 | BeFree |
Pheochromocytoma | 0.000271442 | 1 | 0 | BeFree |
Pituitary Adenoma | 0.000271442 | 1 | 0 | BeFree |
Pituitary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 1 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Teratoma | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Pleural Effusion, Malignant | 0.000271442 | 1 | 0 | BeFree |
Central Nervous System Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Cutaneous Melanoma | 0.000271442 | 1 | 0 | BeFree |
Congenital heart disease | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of bone | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma, Embryonal | 0.000271442 | 1 | 0 | BeFree |
Rhabdoid Tumor | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
Ichthyosis linearis circumflexa | 0.000271442 | 1 | 0 | BeFree |
Vesicular Stomatitis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of colon stage IV | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma, Childhood | 0.000271442 | 1 | 0 | BeFree |
Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Uterine Carcinosarcoma | 0.000271442 | 1 | 0 | BeFree |
Vascular Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Intrahepatic Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Adamantinous Craniopharyngioma | 0.000271442 | 1 | 0 | BeFree |
Disorder of macula of retina | 0.000271442 | 1 | 1 | BeFree |
Refractory angina | 0.000271442 | 1 | 0 | BeFree |
Primary malignant neoplasm of brain | 0.000271442 | 1 | 0 | BeFree |
Malignant Pleural Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Spots on skin | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Pancreatic Ductal | 0.000271442 | 1 | 0 | BeFree |
Colorectal cancer metastatic | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Hormone refractory prostate cancer | 0.000271442 | 1 | 0 | BeFree |
Differentiated Thyroid Gland Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Primary Lesion | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Cholangiolocellular Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000271442 | 1 | 0 | BeFree |
Polycystic Kidney - body part | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
tumor vasculature | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Carcinosarcoma | 0.000271442 | 1 | 0 | BeFree |
Miyoshi myopathy | 0.000271442 | 1 | 0 | BeFree |
Low grade glioma | 0.000271442 | 1 | 0 | BeFree |
Chronic thromboembolic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
Allergic disposition | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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