更多...
收起
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  希佩尔 - 林道综合征(VHL)是一种显性遗传的家族性癌症综合征的诱发各种恶性肿瘤和良性肿瘤。这种基因的胚系突变是VHL综合征的家族继承的基础。由该基因编码的蛋白质是蛋白质复合体,其包括elongin B,elongin C和滞-2的一个组成部分,并具有泛素连接酶E3活性。该蛋白质参与的缺氧诱导因子的泛素化和降解(HIF),这是在基因表达的氧调节中心作用的转录因子。 RNA聚合酶II亚基POLR2G / RPB7也报道是该蛋白质的一个目标。编码不同同种型的可变剪接转录物变体已观察到。 [由RefSeq的,2008年7月提供]
VHL基因(以及对应的蛋白质)的细胞分布位置:
VHL基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Von Hippel-Lindau Syndrome | 0.658392406 | 202 | 50 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
ERYTHROCYTOSIS, FAMILIAL, 2 | 0.56 | 3 | 6 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Pheochromocytoma | 0.415849807 | 86 | 11 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_UNIPROT |
Renal Cell Carcinoma | 0.239057833 | 222 | 0 | BeFree_CTD_human_GAD_LHGDN |
Kidney Neoplasm | 0.219888658 | 24 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Nephroblastoma | 0.2 | 1 | 0 | CTD_human_RGD |
Conventional (Clear Cell) Renal Cell Carcinoma | 0.142529675 | 84 | 3 | BeFree_UNIPROT |
Neoplastic Syndromes, Hereditary | 0.124895885 | 9 | 26 | BeFree_CLINVAR_LHGDN |
Adenoma | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Lung Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Bladder Neoplasm | 0.08 | 1 | 0 | RGD |
Sudden infant death syndrome | 0.08 | 0 | 0 | MGD |
Parkinsonian Disorders | 0.08 | 1 | 0 | RGD |
Paraganglioma | 0.037272208 | 32 | 0 | BeFree_GAD_LHGDN |
Adrenal Gland Neoplasms | 0.02367032 | 10 | 0 | GAD |
Malignant neoplasm of kidney | 0.021878509 | 42 | 0 | BeFree_GAD |
Hemangioblastoma | 0.021397758 | 43 | 0 | BeFree_GAD_LHGDN |
Carcinogenesis | 0.017643722 | 65 | 2 | BeFree |
Polycythemia | 0.01534016 | 22 | 2 | BeFree_GAD_LHGDN |
Renal carcinoma | 0.013300652 | 49 | 0 | BeFree |
Multiple Endocrine Neoplasia Type 2a | 0.010086957 | 14 | 0 | BeFree_GAD |
Head and Neck Neoplasms | 0.009468128 | 4 | 0 | GAD |
Anoxia | 0.008173051 | 3 | 0 | LHGDN |
Clear-cell metastatic renal cell carcinoma | 0.007871814 | 29 | 0 | BeFree |
Pancreatic Neoplasm | 0.005634266 | 4 | 0 | BeFree_GAD_LHGDN |
Mammary Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
MYELODYSPLASTIC SYNDROME | 0.005091382 | 2 | 0 | GAD_LHGDN |
Adenocarcinoma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Adenomatous Polyposis Coli | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Squamous cell carcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.003181358 | 4 | 0 | BeFree_GAD |
Colorectal Carcinoma | 0.003181358 | 3 | 0 | BeFree_GAD |
Meningioma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Thyroid Neoplasm | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Disorder of eye | 0.00272435 | 1 | 0 | LHGDN |
Lymphoma | 0.00272435 | 1 | 0 | LHGDN |
Mouth Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Thrombosis | 0.00272435 | 1 | 0 | LHGDN |
Tongue Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Cerebellar Neoplasms | 0.002367032 | 1 | 0 | GAD |
Lymphoproliferative Disorders | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Multiple Primary | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of brain | 0.002367032 | 1 | 0 | GAD |
Tumor Progression | 0.002171535 | 8 | 0 | BeFree |
Non-Hereditary Clear Cell Renal Cell Carcinoma | 0.002171535 | 8 | 0 | BeFree |
Hemangioma | 0.001900093 | 7 | 0 | BeFree |
Neoplasm Metastasis | 0.001628651 | 6 | 0 | BeFree |
Neurofibromatosis 1 | 0.001628651 | 6 | 0 | BeFree |
Neuroendocrine Tumors | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Central Nervous System Hemangioblastoma | 0.001357209 | 5 | 0 | BeFree |
Angioma | 0.001357209 | 5 | 0 | BeFree |
Glioma | 0.001085767 | 4 | 0 | BeFree |
Hemangioma of retina | 0.001085767 | 4 | 0 | BeFree |
Adenocarcinoma, Clear Cell | 0.001085767 | 4 | 0 | BeFree |
Vascular Neoplasms | 0.001085767 | 4 | 0 | BeFree |
Cerebellar hemangioblastoma | 0.001085767 | 4 | 0 | BeFree |
Hereditary Malignant Neoplasm | 0.001085767 | 4 | 0 | BeFree |
Endolymphatic sac tumor | 0.001085767 | 4 | 0 | BeFree |
Bilateral pheochromocytoma and islet cell adenoma of the pancreas | 0.001085767 | 4 | 0 | BeFree |
Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Hurthle Cell Tumor | 0.000814326 | 3 | 0 | BeFree |
Papillary Renal Cell Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Erythrocytosis | 0.000814326 | 3 | 0 | BeFree |
Aneurysm | 0.000542884 | 2 | 0 | BeFree |
Astrocytoma | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Congenital chromosomal disease | 0.000542884 | 2 | 0 | BeFree |
Cyst | 0.000542884 | 2 | 0 | BeFree |
Glomerulonephritis | 0.000542884 | 2 | 0 | BeFree |
Mesothelioma | 0.000542884 | 2 | 0 | BeFree |
Multiple Endocrine Neoplasia | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
Neurofibromatoses | 0.000542884 | 2 | 0 | BeFree |
Gastrointestinal Stromal Tumors | 0.000542884 | 2 | 0 | BeFree |
Hemangioma of liver | 0.000542884 | 2 | 0 | BeFree |
Medullary carcinoma of thyroid | 0.000542884 | 2 | 0 | BeFree |
Simple renal cyst | 0.000542884 | 2 | 0 | BeFree |
Tumor Initiation | 0.000542884 | 2 | 0 | BeFree |
Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000542884 | 2 | 0 | BeFree |
Pheochromocytoma, Extra-Adrenal | 0.000542884 | 2 | 0 | BeFree |
Paragangliomas, head and neck | 0.000542884 | 2 | 0 | BeFree |
Hereditary Paraganglioma | 0.000542884 | 2 | 0 | BeFree |
Tumor Angiogenesis | 0.000542884 | 2 | 0 | BeFree |
Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Papillary | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Cystadenoma | 0.000271442 | 1 | 0 | BeFree |
Endocrine Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Fenestration (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Hemangiosarcoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
Intestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure, Chronic | 0.000271442 | 1 | 0 | BeFree |
Cystic kidney | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Muscle Cramp | 0.000271442 | 1 | 0 | BeFree |
Nervous System Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Cyst | 0.000271442 | 1 | 0 | BeFree |
Extra-Adrenal Paraganglioma | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Spermatocele | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Tuberous Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Varicosity | 0.000271442 | 1 | 0 | BeFree |
Vascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Familial erythrocytosis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of tongue | 0.000271442 | 1 | 0 | BeFree |
Adenoma, Microcystic | 0.000271442 | 1 | 0 | BeFree |
Leiomyomatosis | 0.000271442 | 1 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Acinar Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cystadenoma, Serous | 0.000271442 | 1 | 0 | BeFree |
Rapidly progressive glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Chronic colitis | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Metastatic Renal Cell Cancer | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Venous retinal branch occlusion | 0.000271442 | 1 | 0 | BeFree |
Oncocytoma, renal | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
Renal ischaemia | 0.000271442 | 1 | 0 | BeFree |
Clear cell tumor | 0.000271442 | 1 | 0 | BeFree |
Nodular Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Well Differentiated Pancreatic Endocrine Tumor | 0.000271442 | 1 | 0 | BeFree |
Differentiated Thyroid Gland Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Epithelioma | 0.000271442 | 1 | 0 | BeFree |
Angiogenic Switch | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic | 0.000271442 | 1 | 0 | BeFree |
Malignant Conversion | 0.000271442 | 1 | 0 | BeFree |
Alport Syndrome | 0.000271442 | 1 | 0 | BeFree |
Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
HEREDITARY RENAL CANCER ASSOCIATED 1 | 0.000271442 | 1 | 0 | BeFree |
Multiple endocrine neoplasia (MEN) Syndrome | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 0.000271442 | 1 | 0 | BeFree |
Pancreatic islet cell tumors | 0.000271442 | 1 | 0 | BeFree |
Familial renal cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Unspecified visual loss | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。