AVPR2（精氨酸加压素受体2型）是一种G蛋白偶联受体，属于加压素受体家族，主要分布在肾脏集合管的上皮细胞中。它的主要功能是结合抗利尿激素（ADH，也称为加压素），激活腺苷酸环化酶-cAMP信号通路，促进水通道蛋白AQP2插入细胞膜，从而增加水的重吸收，维持体液平衡和血压稳定。AVPR2基因突变会导致X连锁隐性遗传病肾性尿崩症（NDI），患者表现为多尿、烦渴和脱水，因为肾脏无法浓缩尿液。常见的突变类型包括错义突变、无义突变和剪接位点突变，这些突变导致受体功能丧失或表达减少。AVPR2过表达可能导致水潴留和低钠血症，而表达降低则与尿崩症相关。AVPR2属于加压素受体家族，该家族包括AVPR1A、AVPR1B和AVPR2，它们都通过结合加压素调节不同的生理功能，如血管收缩、应激反应和水重吸收。AVPR2的特异性在于它仅对加压素有高亲和力，并且主要参与水代谢调节。研究还发现AVPR2可能与社会行为、认知功能有关，但其机制尚不明确。此外，AVPR2的表达或功能异常可能与高血压、心力衰竭等疾病相关，但具体机制需要进一步研究。

This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]

该基??因编码的加压素受体，2型，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，并耦合到GS从而刺激腺苷酸环化酶。包含V2受体时，V1A和V1B加压素受体时，催产素受体和isotocin和mesotocin受体在非哺乳动物的亚科，是非常保守的，虽然几个成员通过其他的G蛋白信号。所有绑定类似的环状九肽激素。的V2受体在肾小管中表达，主要在远曲小管和收集管，其中它的主要属性是通过刺激该集中的尿液和保持在生物体水动态平衡机制，垂体激素精氨酸加压素（AVP）响应。当该基因的功能丧失，疾病肾性尿崩症（NDI）的结果。在V2受体也表达了外肾虽然它的组织定位是不确定的。当这些“肾外受体”由V2选择性激动剂（氨加压素）的输注刺激，各种凝血因子被释放到血液中。此属性的生理重要性未知 - 它的缺失不会出现有害于NDI的患者。基因表达也已经在胎儿肺组织和与剪接相关肺癌说明。 [由RefSeq的，2008年7月提供]

AVPR2基因在不同组织中的表达：    [UniProt]

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