
Vasopressin receptor 2 - Wikipedia
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-coupled receptors. Its activity is mediated by the G s type of G …
AVPR2 Gene - GeneCards | V2R Protein | V2R Antibody
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 Diabetes Insipidus, Nephrogenic, 1, X-Linked. Among its related pathways are Class A/1 (Rhodopsin-like receptors) and Vesicle-mediated transport.
AVPR2 arginine vasopressin receptor 2 [ Homo sapiens (human) ]
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 promotes microvascular permeability in sepsis.
可治性罕见病—先天性肾性尿崩症 - 知乎 - 知乎专栏
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、鉴别诊断. 1、继发性肾性尿崩症
Clinical, Genetic and Functional Characterization of a Novel AVPR2 ...
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 and molecular phenotyping, we provide functional evidence for phenotypic effects.
AVPR2 gene - MedlinePlus
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), which is sometimes also called antidiuretic hormone (ADH).
精氨酸加压素受体 2(AVPR2)基因 | MCE - MCE-生物活性 ...
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、催产素受体以及非哺乳动物中的同位素和间产素受体在内的亚家族非常保守,尽管有几个成员通过其他 G 蛋白发出信号。 所有结合相似的环状九肽激素。 V2 受体在肾小管中表达,主要在远曲小管和集合管中表达,其主要特性是通过刺激浓缩尿液和维持机体水稳态的机制来响应垂体激素精氨酸加压素 …
Entry - *300538 - ARGININE VASOPRESSIN RECEPTOR 2; AVPR2 …
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 mediated by 3 receptor subtypes: the V1A ( 600821 ) and V1B ( 600264 ) receptors that activate phospholipases via Gq/11, and the V2 receptor that activates adenylyl cyclase by ...
AVPR2人源基因|AVPR2基因突变_致病性_靶点-RDDC官网
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失时,会导致疾病肾性糖尿病无尿(NDI)。 尽管其组织定位尚不确定,但V2受体也在肾脏外表达。 当通过输注V2选择性激动剂(dDAVP)刺激这些“肾外受体”时,各种凝血因子会释放到血流中。 这个性质的生理重要性尚不清楚——在NDI患者中,其缺失似乎不会造成损害。 该基因表达也与 …
AVPR2 variants and mutations in nephrogenic diabetes insipidus: …
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 mutations/variants in AVPR2.