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This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
[中文简述(自动翻译):]  该基因编码对心脏动作电位的复极化阶段所需要的电压 - 门控钾通道。这种蛋白质能与另外两个钾离子通道蛋白质,KCNE1和KCNE3异多。在这种基因突变与遗传性长QT综合征1(也称为罗马沃德综合征),Jervell和朗格 - 尼尔森综合症,和家族性心房纤维性颤动相关联。该基因表现出组织特异性印迹,在某些组织中优先表达从母体等位基因,而在其他等位基因的表达。该基因位于混在与贝克威思-威德曼综合征(BWS)相关联的其它印迹基因的11号染色体的一个区域,并且本身已被证明是由染色体重排的患者BWS打乱。另外剪接转录变体也发现了这种基因。 [由RefSeq的,2011年8月提供]
KCNQ1基因(以及对应的蛋白质)的细胞分布位置:
KCNQ1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Jervell-Lange Nielsen Syndrome | 0.585217807 | 42 | 9 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
| Romano-Ward Syndrome | 0.573049073 | 47 | 33 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT |
| Long QT Syndrome | 0.416510837 | 238 | 46 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
| Atrial Fibrillation, Familial, 3 | 0.36 | 1 | 5 | CLINVAR_CTD_human_UNIPROT |
| SHORT QT SYNDROME 2 (disorder) | 0.36 | 1 | 1 | CLINVAR_CTD_human_UNIPROT |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.335743629 | 78 | 49 | BeFree_CTD_human_GAD_GWASCAT |
| Congenital long QT syndrome | 0.13302921 | 48 | 223 | BeFree_CLINVAR |
| Sudden infant death syndrome | 0.12827274 | 5 | 4 | BeFree_CLINVAR_GAD_LHGDN |
| Torsades de Pointes | 0.127534359 | 11 | 5 | BeFree_CLINVAR_GAD_LHGDN |
| Noise-induced hearing loss | 0.127458414 | 2 | 0 | CTD_human_GAD_LHGDN |
| Short Qt Syndrome | 0.121628651 | 6 | 2 | BeFree_CLINVAR |
| LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO | 0.12 | 0 | 1 | CLINVAR |
| Atrial Fibrillation Adverse Event | 0.12 | 0 | 4 | CLINVAR |
| Deafness | 0.082367032 | 2 | 0 | GAD_RGD |
| Hypertensive disease | 0.080271442 | 2 | 1 | BeFree_RGD |
| Achlorhydria | 0.08 | 1 | 0 | RGD |
| Metaplasia | 0.08 | 1 | 0 | RGD |
| Electrocardiogram abnormal | 0.03550548 | 15 | 0 | GAD |
| Cardiac Arrhythmia | 0.02367032 | 10 | 0 | GAD |
| Sudden Cardiac Death | 0.01455951 | 6 | 0 | GAD_LHGDN |
| Syncope | 0.009620018 | 20 | 5 | BeFree_GAD |
| Atrial Fibrillation | 0.007815732 | 3 | 0 | GAD_LHGDN |
| Sudden death | 0.007458414 | 2 | 0 | GAD_LHGDN |
| Brugada Syndrome (disorder) | 0.007372538 | 4 | 0 | BeFree_GAD |
| cardiac event | 0.007328931 | 27 | 12 | BeFree |
| Diabetes Mellitus | 0.006905599 | 10 | 0 | BeFree_GAD |
| Gestational Diabetes | 0.005819831 | 4 | 0 | BeFree_GAD |
| Myocardial Infarction | 0.005276948 | 2 | 0 | BeFree_GAD |
| Fibrillation | 0.004885954 | 18 | 3 | BeFree |
| Prolonged QT interval | 0.004734064 | 2 | 0 | GAD |
| Cardiac Arrest | 0.003452799 | 5 | 0 | BeFree_GAD |
| Channelopathies | 0.003452799 | 5 | 0 | BeFree_GAD |
| Beckwith-Wiedemann Syndrome | 0.003257302 | 12 | 0 | BeFree |
| Cardiovascular Diseases | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Fetal Distress | 0.002995792 | 1 | 1 | BeFree_LHGDN |
| Atrioventricular Block | 0.002909916 | 3 | 2 | BeFree_GAD |
| Obesity | 0.002909916 | 3 | 0 | BeFree_GAD |
| Lung diseases | 0.00272435 | 1 | 0 | LHGDN |
| Hyperparathyroidism, Primary | 0.00272435 | 1 | 0 | LHGDN |
| Cardiomyopathies | 0.002638474 | 2 | 0 | BeFree_GAD |
| Coronary Artery Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
| Chromosome Deletion | 0.002367032 | 1 | 0 | GAD |
| Mental Depression | 0.002367032 | 1 | 0 | GAD |
| Hearing Loss, Partial | 0.002367032 | 1 | 0 | GAD |
| HIV Infections | 0.002367032 | 1 | 0 | GAD |
| Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
| Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Gastroparesis | 0.002367032 | 1 | 0 | GAD |
| Dyslipidemias | 0.002367032 | 1 | 0 | GAD |
| hearing impairment | 0.002367032 | 1 | 0 | GAD |
| Hearing Loss | 0.002367032 | 1 | 0 | GAD |
| Diabetes | 0.002171535 | 8 | 0 | BeFree |
| Congenital deafness | 0.001900093 | 7 | 1 | BeFree |
| Epilepsy | 0.000814326 | 3 | 0 | BeFree |
| Sensorineural Hearing Loss (disorder) | 0.000814326 | 3 | 0 | BeFree |
| Cardiac channelopathy | 0.000814326 | 3 | 0 | BeFree |
| Diabetic Nephropathy | 0.000542884 | 2 | 0 | BeFree |
| Heart Diseases | 0.000542884 | 2 | 0 | BeFree |
| Nephroblastoma | 0.000542884 | 2 | 0 | BeFree |
| Seizures | 0.000542884 | 2 | 0 | BeFree |
| Ventricular Fibrillation | 0.000542884 | 2 | 0 | BeFree |
| Hearing Loss, Mixed Conductive-Sensorineural | 0.000542884 | 2 | 0 | BeFree |
| Lone atrial fibrillation | 0.000542884 | 2 | 0 | BeFree |
| Ventricular tachycardia, polymorphic | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Anemia | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
| Hypertrophic Cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Gastritis, Hypertrophic | 0.000271442 | 1 | 0 | BeFree |
| Congenital Heart Defects | 0.000271442 | 1 | 0 | BeFree |
| Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
| Hypoglycemia | 0.000271442 | 1 | 0 | BeFree |
| Intestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Multiple Endocrine Neoplasia Type 2a | 0.000271442 | 1 | 0 | BeFree |
| Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Neural hearing loss | 0.000271442 | 1 | 0 | BeFree |
| Rhabdoid Tumor | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic carcinoma | 0.000271442 | 1 | 1 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000271442 | 1 | 1 | BeFree |
| Gastric Carcinoid Tumor | 0.000271442 | 1 | 1 | BeFree |
| idiopathic epilepsy | 0.000271442 | 1 | 0 | BeFree |
| Bladder outflow obstruction | 0.000271442 | 1 | 0 | BeFree |
| Sinus Node Dysfunction (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
| Multisystem disorder | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of gastrointestinal tract | 0.000271442 | 1 | 0 | BeFree |
| Recurrent seizures | 0.000271442 | 1 | 0 | BeFree |
| Syncopal Episode | 0.000271442 | 1 | 0 | BeFree |
| Ischemic stroke | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Andersen Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Acquired long QT syndrome | 0.000271442 | 1 | 4 | BeFree |
| Ischemic Cerebrovascular Accident | 0.000271442 | 1 | 0 | BeFree |
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