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This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. This gene may be associated with susceptibility to schizophrenia in a small portion of cases. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码所述Notch家族的一个成员。这种类型1的跨膜蛋白家族的成员共有的结构特征,包括由多个表皮生长因子样(EGF)的胞外域重复,和由多个不同的域类型的细胞内结构域。缺口家族成员通过控制细胞命运决定发挥各种发育过程中的作用。 Notch信号网络是其调节物理相邻细胞间的相互作用的进化上保守的细胞间信号传导途径。在Drosophilia,其细胞结合的配体(三角形,锯齿)缺口交互规定,起着发展的重要作用,细胞间信号通路。缺口配体的同系物也已在人确定,但这些配体与人Notch同源物之间的精确相互作用仍有待确定。这种蛋白质被裂解反式高尔基网络中,并呈现在细胞表面作为异二聚体上。该蛋白质的功能,作为膜结合配体的受体,和可能在血管,肾和肝发育的作用。该基因可以用易感性的情况下的一小部分被关联到精神分裂症。备选剪接变体已被描述,但其生物性质尚未确定。 [由RefSeq的,2008年7月提供]
NOTCH4基因(以及对应的蛋白质)的细胞分布位置:
NOTCH4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schizophrenia | 0.197169077 | 41 | 5 | BeFree_GAD_GWASCAT_LHGDN |
Mammary Neoplasms | 0.122995792 | 4 | 0 | BeFree_CTD_human_LHGDN |
Systemic Scleroderma | 0.122638474 | 1 | 2 | BeFree_GAD_GWASCAT |
Age related macular degeneration | 0.122638474 | 1 | 6 | BeFree_GAD_GWASCAT |
Asthma | 0.122367032 | 1 | 1 | GAD_GWASCAT |
Obesity | 0.12 | 1 | 1 | GWASCAT |
Malignant neoplasm of prostate | 0.12 | 1 | 1 | GWASCAT |
Hepatitis B, Chronic | 0.12 | 1 | 1 | GWASCAT |
Carcinoma, Pancreatic Ductal | 0.12 | 1 | 0 | CTD_human |
AIDS-Associated Nephropathy | 0.08 | 1 | 0 | RGD |
Arteriovenous Malformations, Cerebral | 0.08 | 0 | 0 | MGD |
Rheumatoid Arthritis | 0.010825337 | 9 | 2 | BeFree_GAD |
Lupus Erythematosus, Systemic | 0.00973957 | 4 | 7 | BeFree_GAD |
Diabetes Mellitus, Insulin-Dependent | 0.007101096 | 2 | 8 | GAD |
Alopecia Areata | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
Mood Disorders | 0.005091382 | 1 | 0 | GAD_LHGDN |
Alzheimer's Disease | 0.004734064 | 2 | 0 | GAD |
Liver carcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Multiple Sclerosis | 0.002909916 | 3 | 6 | BeFree_GAD |
Pulmonary Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Psoriasis | 0.002638474 | 1 | 4 | BeFree_GAD |
Spontaneous abortion | 0.002367032 | 1 | 0 | GAD |
Ulcerative Colitis | 0.002367032 | 1 | 0 | GAD |
IGA Glomerulonephritis | 0.002367032 | 1 | 1 | GAD |
Hepatitis C | 0.002367032 | 1 | 0 | GAD |
Meningococcal Infections | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Sepsis | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.001628651 | 6 | 0 | BeFree |
Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Bipolar Disorder | 0.001085767 | 4 | 1 | BeFree |
Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
Adenoid Cystic Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 6 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Demyelinating Diseases | 0.000271442 | 1 | 1 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
granulosa cell tumor | 0.000271442 | 1 | 0 | BeFree |
Graves Disease | 0.000271442 | 1 | 0 | BeFree |
Hepatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 2 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Seminoma | 0.000271442 | 1 | 0 | BeFree |
Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Vasculitis | 0.000271442 | 1 | 0 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
Migraine Disorders | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Diffuse Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Inclusion Body Myopathy, Sporadic | 0.000271442 | 1 | 0 | BeFree |
Invasive Ductal Breast Carcinoma | 0.000271442 | 1 | 6 | BeFree |
Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
early onset schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 2 | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 1 | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 4 | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 5 | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 6 | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 7 | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 8 | 0.000271442 | 1 | 0 | BeFree |
MAJOR AFFECTIVE DISORDER 9 | 0.000271442 | 1 | 0 | BeFree |
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