Vasopressin receptor 2 (V2R), or arginine vasopressin receptor 2 (officially called AVPR2), is a protein that acts as receptor for vasopressin. [5] AVPR2 belongs to the subfamily of G-protein …

2024年12月24日 · AVPR2 (Arginine Vasopressin Receptor 2) is a Protein Coding gene. Diseases associated with AVPR2 include Nephrogenic Syndrome Of Inappropriate Antidiuresis and …

2025年3月4日 · Title: Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus. Arginine vasopressin receptor 2 activation …

根据阳性家族史、典型的临床表现及发作特点以及avpr2基因或aqp2基因检测结果可明确诊断。迄今为止，国际上报道的avpr2基因突变点位220多个，aqp2基因突变点位有50个左右[2]。 四、 …

Genetic analyses revealed a novel heterozygous missense mutation (c.493G > C, p.Ala165Pro) in the AVPR2 gene. Using a combination of in-silico protein modeling with human cellular models …

The AVPR2 gene provides instructions for making a protein known as the vasopressin V2 receptor. This receptor works together with a hormone called arginine vasopressin (AVP), …

该基因编码 2 型加压素受体，也称为 V2 受体，属于七跨膜结构域 G 蛋白偶联受体 (GPCR) 超家族，并与 Gs 偶联，从而刺激腺苷酸环化酶。 包括 V2 受体、V1a 和 V1b 加压素受体、催产素 …

2013年7月12日 · The AVPR2 gene encodes the arginine vasopressin receptor-2 (V2R), a G protein-coupled receptor. The biologic effects of arginine vasopressin (AVP; 192340 ) are …

V2受体在肾小管中表达，主要分布在远曲小管和收集管中，其主要特性是响应垂体激素精氨酸加压素（AVP），通过刺激使尿液浓缩并维持机体水分内环境稳定的机制。 当这个基因的功能丧 …

Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published …