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This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  该基因编码的转录因子的包含同源结构域超家族的成员。该蛋白与DNA结合,可以是同二聚体,或与相关蛋白肝细胞核因子1-α的异二聚体。该基因已经显示在肾发育起作用,并调节胚胎胰腺的发育。在该基因导致肾囊肿和糖尿病综合征和非胰岛素依赖型糖尿病,和该基因的表达的突变在某些类型的癌症被改变。多个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2009年09月提供]
HNF1B基因(以及对应的蛋白质)的细胞分布位置:
HNF1B基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.564132096 | 45 | 8 | BeFree_CLINVAR_CTD_human_GAD_GWASCAT_LHGDN_UNIPROT |
| Renal cysts and diabetes syndrome | 0.364885954 | 26 | 18 | BeFree_CLINVAR_CTD_human_UNIPROT |
| Malignant neoplasm of prostate | 0.168773794 | 32 | 5 | BeFree_GAD_GWASCAT |
| Prostatic Neoplasms | 0.144742275 | 9 | 2 | CTD_human_GAD_LHGDN |
| Malignant neoplasm of ovary | 0.122171535 | 9 | 1 | BeFree_GWASCAT |
| Renal Cell Carcinoma | 0.121628651 | 6 | 0 | BeFree_CTD_human |
| Endometrial Carcinoma | 0.121085767 | 4 | 1 | BeFree_GWASCAT |
| Epithelial ovarian cancer | 0.121085767 | 5 | 1 | BeFree_GWASCAT |
| Chromophobe Renal Cell Carcinoma | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
| Unilateral Multicystic Dysplastic Kidney | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Hypomagnesemia 2, renal | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
| Testicular Germ Cell Tumor | 0.12 | 1 | 1 | GWASCAT |
| Bilateral Multicystic Dysplastic Kidneys | 0.12 | 0 | 0 | ORPHANET |
| MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.12 | 0 | 0 | ORPHANET |
| Prostate Cancer, Hereditary, 11 | 0.12 | 0 | 0 | CTD_human |
| Prostate cancer, familial | 0.12 | 0 | 0 | ORPHANET |
| CHROMOSOME 17q12 DELETION SYNDROME | 0.12 | 0 | 0 | ORPHANET |
| Diabetes Mellitus | 0.012334436 | 30 | 0 | BeFree_GAD |
| Kidney Diseases | 0.00853425 | 15 | 0 | BeFree_GAD |
| ovarian neoplasm | 0.008444493 | 3 | 0 | BeFree_LHGDN |
| Thyroid Neoplasm | 0.008173051 | 3 | 0 | LHGDN |
| Diabetes Mellitus, Insulin-Dependent | 0.00764398 | 5 | 0 | BeFree_GAD |
| Diabetes | 0.007328931 | 27 | 0 | BeFree |
| Maturity onset diabetes mellitus in young | 0.006786047 | 25 | 0 | BeFree |
| Prostate carcinoma | 0.003800186 | 14 | 3 | BeFree |
| Cyst | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Simple renal cyst | 0.003528744 | 13 | 0 | BeFree |
| Kidney Failure, Chronic | 0.003452799 | 5 | 0 | BeFree_GAD |
| Hyperuricemia | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Congenital Abnormality | 0.003257302 | 12 | 0 | BeFree |
| Diabetic Nephropathy | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Polycystic Kidney, Autosomal Dominant | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Autosomal Recessive Polycystic Kidney Disease | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Cessation of life | 0.00272435 | 1 | 0 | LHGDN |
| Gout | 0.00272435 | 1 | 0 | LHGDN |
| Ovarian Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Endometrial Neoplasms | 0.002638474 | 2 | 2 | BeFree_GAD |
| Obesity | 0.002638474 | 2 | 0 | BeFree_GAD |
| Diabetic Neuropathies | 0.002367032 | 1 | 0 | GAD |
| HIV Infections | 0.002367032 | 1 | 0 | GAD |
| Magnesium Deficiency | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Vesico-Ureteral Reflux | 0.002367032 | 1 | 0 | GAD |
| Wasting Syndrome | 0.002367032 | 1 | 0 | GAD |
| Adenocarcinoma, Clear Cell | 0.001628651 | 6 | 0 | BeFree |
| Kidney Failure | 0.001085767 | 4 | 0 | BeFree |
| Congenital anomaly of the kidney | 0.001085767 | 4 | 0 | BeFree |
| Cakut | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of endometrium | 0.000814326 | 3 | 1 | BeFree |
| Polycystic Kidney Diseases | 0.000814326 | 3 | 0 | BeFree |
| Congenital malformation of genital organs | 0.000814326 | 3 | 0 | BeFree |
| Familial juvenile gout | 0.000814326 | 3 | 0 | BeFree |
| Chronic Kidney Insufficiency | 0.000814326 | 3 | 0 | BeFree |
| Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
| Chronic Kidney Diseases | 0.000814326 | 3 | 0 | BeFree |
| Medullary cystic kidney disease 1 | 0.000814326 | 3 | 0 | BeFree |
| Uterine Corpus Cancer | 0.000814326 | 3 | 1 | BeFree |
| Multicystic Dysplastic Kidney | 0.000814326 | 3 | 0 | BeFree |
| Autistic Disorder | 0.000542884 | 2 | 0 | BeFree |
| Blepharophimosis | 0.000542884 | 2 | 0 | BeFree |
| Developmental Disabilities | 0.000542884 | 2 | 0 | BeFree |
| Kidney Neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Exocrine pancreatic insufficiency | 0.000542884 | 2 | 0 | BeFree |
| Cholestasis in newborn | 0.000542884 | 2 | 0 | BeFree |
| Polycystic Kidney - body part | 0.000542884 | 2 | 0 | BeFree |
| Rokitansky Kuster Hauser syndrome | 0.000542884 | 2 | 0 | BeFree |
| Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Cholestasis | 0.000271442 | 1 | 0 | BeFree |
| Colonic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Von Hippel-Lindau Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Hyperparathyroidism | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
| Cystic kidney | 0.000271442 | 1 | 0 | BeFree |
| Lipomatosis | 0.000271442 | 1 | 0 | BeFree |
| Nephritis, Interstitial | 0.000271442 | 1 | 0 | BeFree |
| Pheochromocytoma | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Failure, Premature | 0.000271442 | 1 | 0 | BeFree |
| Neonatal diabetes mellitus | 0.000271442 | 1 | 0 | BeFree |
| Trisomy X syndrome | 0.000271442 | 1 | 0 | BeFree |
| Hyperuricemic nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Chronic interstitial nephritis | 0.000271442 | 1 | 0 | BeFree |
| Cardiovascular Abnormalities | 0.000271442 | 1 | 0 | BeFree |
| Branchio-Oto-Renal Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Duodenal atresia | 0.000271442 | 1 | 0 | BeFree |
| Congenital hypoplasia of kidney | 0.000271442 | 1 | 0 | BeFree |
| Uterine Anomalies | 0.000271442 | 1 | 0 | BeFree |
| Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
| Serous cystadenocarcinoma ovary | 0.000271442 | 1 | 0 | BeFree |
| bilateral agenesis | 0.000271442 | 1 | 0 | BeFree |
| cystic disease | 0.000271442 | 1 | 0 | BeFree |
| Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
| Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
| Renal dysplasia and retinal aplasia (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Nephronophthisis | 0.000271442 | 1 | 0 | BeFree |
| Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Trichothiodystrophy Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Benign symmetrical lipomatosis | 0.000271442 | 1 | 0 | BeFree |
| Medullary cystic disease | 0.000271442 | 1 | 0 | BeFree |
| 2,8-Dihydroxyadenine Urolithiasis | 0.000271442 | 1 | 0 | BeFree |
| Congenital renal cyst | 0.000271442 | 1 | 0 | BeFree |
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