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This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的碱性螺旋 - 环 - 螺旋(bHLH结构)型转录因子分裂相关(HESR)家族的毛状和增强的成员。所编码的蛋白质的形式均聚物或该定位于核和相互作用与组蛋白脱乙酰复杂杂二聚体抑制转录。这个基因的表达是由所述Notch信号传导途径诱导。在小鼠两个类似的和冗余的基因所需的胚胎心血管发育,并且也牵连在神经发生和体节形成。可变剪接转录物变体已被发现,但它们的生物有效性尚未确定。 [由RefSeq的,2008年7月提供]
HEY2基因(以及对应的蛋白质)的细胞分布位置:
HEY2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Brugada Syndrome (disorder) | 0.120542884 | 2 | 3 | BeFree_CTD_human |
Astrocytoma | 0.12 | 1 | 0 | CTD_human |
Hypertrophic Cardiomyopathy | 0.12 | 1 | 0 | CTD_human |
Carcinoma, Pancreatic Ductal | 0.12 | 1 | 0 | CTD_human |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Tetralogy of Fallot | 0.080271442 | 1 | 0 | BeFree_MGD |
Coronary heart disease | 0.000814326 | 3 | 0 | BeFree |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Congenital Heart Defects | 0.000542884 | 2 | 0 | BeFree |
Ventricular Septal Defects | 0.000542884 | 2 | 0 | BeFree |
Alcoholic Intoxication, Chronic | 0.000271442 | 1 | 0 | BeFree |
Anaplasia | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Cholestasis | 0.000271442 | 1 | 0 | BeFree |
Down Syndrome | 0.000271442 | 1 | 0 | BeFree |
Ependymoma | 0.000271442 | 1 | 0 | BeFree |
Heart Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Alagille Syndrome | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Congenital heart disease | 0.000271442 | 1 | 0 | BeFree |
Hyperandrogenism | 0.000271442 | 1 | 0 | BeFree |
Reactive systemic amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Common atrioventricular canal | 0.000271442 | 1 | 0 | BeFree |
Atresia | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of face | 0.000271442 | 1 | 0 | BeFree |
Pilocytic Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Atrioventricular septal defect and common atrioventricular junction | 0.000271442 | 1 | 0 | BeFree |
Complete atrioventricular septal defect | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiac defects | 0.000271442 | 1 | 0 | BeFree |
Sporadic Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
ATRIOVENTRICULAR CANAL DEFECT | 0.000271442 | 1 | 0 | BeFree |
Atrioventricular Septal Defect | 0.000271442 | 1 | 0 | BeFree |
Vascular lesions | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
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