AVPR2 Gene (Arginine Vasopressin Receptor 2)
Key regulator of water reabsorption in the kidney; mutations cause nephrogenic diabetes insipidus
Gene Information Card
| Symbol | AVPR2 |
|---|---|
| Full Name | Arginine Vasopressin Receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 554 ncbi.nlm.nih.gov/gene/554 |
| Ensembl ID | ENSG00000126895 |
| UniProt ID | P30518 |
| OMIM ID | 300538 |
| HGNC ID | 897 |
| Aliases | V2R, ADHR, DIR, DI1, NDI |
Description
The AVPR2 gene encodes the arginine vasopressin receptor 2 (V2 receptor), a G protein-coupled receptor primarily expressed in the kidney. It mediates the antidiuretic effect of vasopressin by activating the cAMP signaling pathway, leading to insertion of aquaporin-2 water channels in the collecting duct and promoting water reabsorption. Loss-of-function mutations cause X-linked nephrogenic diabetes insipidus (NDI), while gain-of-function mutations are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrogenic diabetes insipidus (NDI) | Loss-of-function mutations impair receptor signaling, preventing water reabsorption | ClinVar, OMIM |
| Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) | Gain-of-function mutations cause constitutive activation of the receptor, leading to water retention and hyponatremia | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Lung | 1.2 | Low |
| Liver | 0.8 | Low |
| Brain | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Recombinant expression studies |
| MDCK | 8.7 | Canine kidney cell line |
| A549 | 0.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.137G>A (p.Arg46Gln) | Missense | <0.01% | Loss of function; associated with NDI |
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Loss of function; associated with NDI |
| c.728G>A (p.Arg243His) | Missense | <0.01% | Gain of function; associated with NSIAD |
Mutation functional classification
Loss of Function (LOF)
Most AVPR2 mutations cause loss of function, leading to nephrogenic diabetes insipidus due to impaired receptor trafficking or signaling.
Gain of Function (GOF)
Rare gain-of-function mutations cause constitutive activation of the receptor, resulting in nephrogenic syndrome of inappropriate antidiuresis.
Dominant Negative (DN)
Not reported for AVPR2; the gene is X-linked, and hemizygous males are affected.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • vasopressin receptor activity |
| • cAMP-mediated signaling | • water transport |
| • renal water homeostasis |
Pathways
• Vasopressin-regulated water reabsorption
• cAMP signaling pathway
Protein Summary
The AVPR2 protein is a 371-amino acid G protein-coupled receptor with seven transmembrane domains. It is primarily expressed in the basolateral membrane of kidney collecting duct principal cells. Upon binding arginine vasopressin, it activates Gs proteins, increasing intracellular cAMP and triggering aquaporin-2 translocation to the apical membrane, facilitating water reabsorption. Mutations disrupt this process, leading to water balance disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AVPR2 Knockout HEK293 Cell Line | EDJ-KQ1721 | Human | 554 | Details Get a Quote |
| AVPR2 Knockout HeLa Cell Line | EDC90294 | Human | 554 | Details Get a Quote |
| AVPR2 Knockout A-549 Cell Line | EDJ-KQ61172 | Human | 554 | Details Get a Quote |
| AVPR2 Knockout HCT 116 Cell Line | EDJ-KQ69660 | Human | 554 | Details Get a Quote |
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