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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AVPR2
arginine vasopressin receptor 2
Chromosome X Β· Xq28
NCBI Gene: 554Ensembl: ENSG00000126895.17HGNC: HGNC:897UniProt: P30518
168PubMed Papers
22Diseases
13Drugs
109Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
adenylate cyclase-activating G protein-coupled receptor signaling pathwayendosomeplasma membranerenal water absorptionnephrogenic syndrome of inappropriate antidiuresisnephrogenic diabetes insipidusHyponatremiadiabetes insipidus
✦AI Summary

AVPR2 is an X-linked G protein-coupled receptor that mediates arginine vasopressin (AVP) signaling to regulate renal water reabsorption 1234. The receptor is coupled to Gs G alpha proteins and, upon AVP binding, activates adenylate cyclase to increase intracellular cAMP 34. In the kidney collecting duct, AVPR2 activation promotes aquaporin-2-mediated water reabsorption, enabling urine concentration and fluid homeostasis 56. Loss-of-function AVPR2 mutations cause X-linked nephrogenic diabetes insipidus (NDI), characterized by inability of kidneys to concentrate urine despite normal or elevated AVP levels, resulting in polyuria and polydipsia 57. Conversely, gain-of-function mutations cause nephrogenic syndrome of inappropriate antidiuresis with excessive water reabsorption 5. Clinically, desmopressinβ€”a synthetic AVPR2-specific AVP analogueβ€”effectively treats central AVP deficiency but is ineffective in nephrogenic forms 8. The receptor also functions in blood pressure regulation and hemostasis through vasopressin's systemic effects 910. Understanding AVPR2 mutations has provided molecular insight into vasopressin-regulated water transport mechanisms in kidney epithelium.

Sources cited
1
AVPR2 is a G-protein-coupled receptor for arginine vasopressin that promotes renal water reabsorption
PMID: 1534149
2
AVPR2 function in antidiuretic hormone action for water reabsorption
PMID: 19440390
3
AVPR2 is coupled to Gs G alpha proteins and mediates adenylate cyclase activation
PMID: 33664408
4
AVPR2 ligand binding triggers G protein signaling and adenylate cyclase modulation
PMID: 33742150
5
AVPR2 activation facilitates aquaporin-mediated water reabsorption in collecting duct; mutations cause nephrogenic diabetes insipidus
PMID: 26077742
6
AVPR2 (V2R) mediates AVP-regulated water reabsorption and dysfunction results in diabetes insipidus or NSIAD
PMID: 31588538
7
Desmopressin is an AVPR2-specific synthetic AVP analogue used to treat AVP deficiency
PMID: 38693275
8
AVPR2 gene deletions cause nephrogenic diabetes insipidus
PMID: 22879391
9
AVPR2 is a vasopressin receptor target involved in blood pressure regulation
PMID: 31646370
10
AVPR2 is a vasopressin receptor involved in hemodynamic responses
PMID: 32820475
Disease Associationsβ“˜22
nephrogenic syndrome of inappropriate antidiuresisOpen Targets
0.75Strong
nephrogenic diabetes insipidusOpen Targets
0.75Strong
HyponatremiaOpen Targets
0.59Moderate
diabetes insipidusOpen Targets
0.58Moderate
heart failureOpen Targets
0.58Moderate
Autosomal dominant polycystic kidney diseaseOpen Targets
0.57Moderate
enuresisOpen Targets
0.56Moderate
hemorrhageOpen Targets
0.56Moderate
inappropriate ADH syndromeOpen Targets
0.54Moderate
hepatorenal syndromeOpen Targets
0.53Moderate
Polycystic Kidney DiseaseOpen Targets
0.53Moderate
Nasal congestionOpen Targets
0.53Moderate
Central diabetes insipidusOpen Targets
0.50Moderate
cardiovascular diseaseOpen Targets
0.47Moderate
head injuryOpen Targets
0.46Moderate
cirrhosis of liverOpen Targets
0.40Moderate
septic shockOpen Targets
0.38Weak
cardiac edemaOpen Targets
0.38Weak
genetic disorderOpen Targets
0.37Weak
PolyuriaOpen Targets
0.37Weak
Diabetes insipidus, nephrogenic, 1, X-linkedUniProt
Nephrogenic syndrome of inappropriate antidiuresisUniProt
Pathogenic Variants109
NM_000054.7(AVPR2):c.130C>T (p.Leu44Phe)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked
β˜…β˜…β˜†β˜†2026β†’ Residue 44
NM_000054.7(AVPR2):c.262G>A (p.Val88Met)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β˜…β˜…β˜†β˜†2026β†’ Residue 88
NM_000054.7(AVPR2):c.1009C>T (p.Arg337Ter)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β˜…β˜…β˜†β˜†2026β†’ Residue 337
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 181
NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 85
NM_000054.7(AVPR2):c.410G>A (p.Arg137His)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|Nephrogenic syndrome of inappropriate antidiuresis|Nephrogenic diabetes insipidus|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 279
NM_000054.7(AVPR2):c.320G>A (p.Gly107Glu)Likely pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_000054.7(AVPR2):c.500C>T (p.Ser167Leu)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked
β˜…β˜…β˜†β˜†2025β†’ Residue 167
NM_000054.7(AVPR2):c.135_136del (p.Ile46fs)Pathogenic
Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis|Diabetes insipidus, nephrogenic, X-linked
β˜…β˜…β˜†β˜†2025β†’ Residue 46
NM_000054.7(AVPR2):c.409C>T (p.Arg137Cys)Pathogenic
Nephrogenic syndrome of inappropriate antidiuresis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 113
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)Likely pathogenic
Diabetes insipidus, nephrogenic, X-linked|Nephrogenic diabetes insipidus|not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β˜…β˜…β˜†β˜†2025β†’ Residue 104
NM_000054.7(AVPR2):c.152_159del (p.Val51fs)Pathogenic
Nephrogenic diabetes insipidus|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 51
NM_000054.7(AVPR2):c.614A>G (p.Tyr205Cys)Pathogenic
Diabetes insipidus, nephrogenic, X-linked|Nephrogenic diabetes insipidus|AVPR2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 205
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis|Diabetes insipidus, nephrogenic, X-linked
β˜…β˜…β˜†β˜†2025β†’ Residue 202
NM_000054.7(AVPR2):c.472del (p.Arg158fs)Pathogenic
Nephrogenic diabetes insipidus|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 158
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)Pathogenic
not provided|Nephrogenic diabetes insipidus
β˜…β˜…β˜†β˜†2025β†’ Residue 322
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)Pathogenic
Inborn genetic diseases|Diabetes insipidus, nephrogenic, X-linked|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 128
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)Pathogenic
not provided|Diabetes insipidus, nephrogenic, X-linked;Nephrogenic syndrome of inappropriate antidiuresis
β˜…β˜…β˜†β˜†2024β†’ Residue 128
View on ClinVar β†—
Drug Targets13
ARGIPRESSIN TANNATEPhase III
Vasopressin receptor agonist
CONIVAPTANApproved
Vasopressin V1a receptor antagonist
cardiovascular disease
CONIVAPTAN HYDROCHLORIDEApproved
Vasopressin V1a receptor antagonist
heart failure
DESMOPRESSINApproved
Vasopressin receptor agonist
DESMOPRESSIN ACETATEApproved
Vasopressin receptor agonist
LIXIVAPTANPhase III
Vasopressin V2 receptor antagonist
LYPRESSINApproved
Vasopressin receptor agonist
amnesia
MOZAVAPTANApproved
Vasopressin V2 receptor antagonist
PECAVAPTANPhase II
Vasopressin V2 receptor antagonist
heart failure
SATAVAPTANPhase III
Vasopressin V2 receptor antagonist
TERLIPRESSINApproved
Vasopressin V1 receptor binding agent
hypertension
TOLVAPTANApproved
Vasopressin V2 receptor antagonist
Polycystic Kidney Disease
VASOPRESSINApproved
Vasopressin receptor agonist
diabetes insipidus
Related Genes
GNB1Protein interaction100%GNG2Protein interaction98%SLC12A1Protein interaction91%GNASProtein interaction88%ARHGAP4Protein interaction88%RENBPProtein interaction87%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
52%
Lung
19%
Ovary
6%
Liver
2%
Brain
0%
Gene Interaction Network
Click a node to explore
AVPR2GNB1GNG2SLC12A1GNASARHGAP4RENBP
PROTEIN STRUCTURE
Preparing viewer…
PDB7DFC Β· 2.49 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.84Intermediate
Observed/Expected LoF0.25 [0.11–0.64]
RankingsWhere AVPR2 stands among ~20K protein-coding genes
  • #2,640of 20,598
    Most Researched168 Β· top quartile
  • #173of 1,025
    FDA-Approved Drug Targets9 Β· top quartile
  • #717of 5,498
    Most Pathogenic Variants109 Β· top quartile
  • #4,629of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedAVPR2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Vasopressor therapy in critically ill patients with shock.
PMID: 31646370
Intensive Care Med Β· 2019
1.00
2
Vasopressor Therapy in the Intensive Care Unit.
PMID: 32820475
Semin Respir Crit Care Med Β· 2021
0.90
3
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
PMID: 26077742
Nat Rev Nephrol Β· 2015
0.80
4
Nephrogenic Diabetes Insipidus.
PMID: 30454745
Pediatr Clin North Am Β· 2019
0.76
5
Nephrogenic diabetes insipidus.
PMID: 11181969
Annu Rev Physiol Β· 2001
0.72