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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NPR3
natriuretic peptide receptor 3
Chromosome 5 Β· 5p13.3
NCBI Gene: 4883Ensembl: ENSG00000113389.16HGNC: HGNC:7945UniProt: A8K4A5
89PubMed Papers
21Diseases
1Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peptide hormone bindingprotein bindingprotein-containing complexchloride ion bindingBoudin-Mortier syndromehypertensionessential hypertensionIncreased blood pressure
✦AI Summary

NPR3 (natriuretic peptide receptor 3) is a multifunctional receptor that binds natriuretic peptides (ANP, BNP, and CNP) with similar affinities and functions primarily as a clearance receptor, regulating local concentrations of these peptide hormones 1. Beyond cardiovascular regulation, NPR3 exhibits dual receptor functionality: operating as a clearance receptor to modulate cGMP production through Npr1 activation, and as a signaling receptor controlling cAMP levels via adenylyl cyclase inhibition 1. This dual mechanism is essential for early embryonic development, particularly in neural crest and cranial placode progenitor formation 1. Genetically, NPR3 variants are associated with hypertensive disorders of pregnancy and blood pressure regulation 234. Population-specific studies confirm NPR3 polymorphisms correlate with hypertension in East Asian populations, though with ethnic heterogeneity 5. NPR3 also contributes to cardiac age acceleration, with genome-wide association studies identifying NPR3 loci linked to unfavorable cardiac geometry and systolic/diastolic dysfunction 6. Recently, NPR3 has been identified as a putative autoantigen in membranous nephropathy and membranous lupus nephritis, suggesting immune-mediated disease relevance 7. Additionally, NPR3 expression in gastric cancer endothelial cells facilitates tumor cell proliferation, indicating roles in cancer biology 8.

Sources cited
1
NPR3 functions as dual clearance and signaling receptor regulating neural crest and cranial placode formation through cGMP and cAMP modulation
PMID: 37162198
2
NPR3 variants are associated with preeclampsia and gestational hypertension through natriuretic peptide signaling pathway
PMID: 37248299
3
NPR3 loci harbor genes involved in blood pressure traits, placental development, and uterine spiral artery remodeling associated with preeclampsia
PMID: 37285119
4
NPR3 locus identified in genome-wide association study of blood pressure regulation and cardiovascular disease risk
PMID: 21909115
5
NPR3 polymorphisms (rs1173766) correlate with hypertension in East Asian populations with population-specific genetic heterogeneity
PMID: 26345810
6
NPR3 loci associated with cardiac age acceleration, unfavorable cardiac geometry, and systolic/diastolic dysfunction
PMID: 39148824
7
NPR3 identified as putative autoantigen in membranous nephropathy and membranous lupus nephritis immune complexes
PMID: 36638888
8
NPR3 expression in gastric cancer endothelial cells facilitates tumor cell proliferation
PMID: 38807601
Disease Associationsβ“˜21
Boudin-Mortier syndromeOpen Targets
0.69Moderate
hypertensionOpen Targets
0.55Moderate
essential hypertensionOpen Targets
0.51Moderate
Increased blood pressureOpen Targets
0.48Moderate
Abnormality of the skeletal systemOpen Targets
0.48Moderate
cardiovascular diseaseOpen Targets
0.46Moderate
alcohol drinkingOpen Targets
0.45Moderate
atrial fibrillationOpen Targets
0.43Moderate
major depressive disorderOpen Targets
0.43Moderate
hypertension, pregnancy-inducedOpen Targets
0.42Moderate
preeclampsiaOpen Targets
0.41Moderate
congestive heart failureOpen Targets
0.39Weak
coronary artery diseaseOpen Targets
0.38Weak
obesityOpen Targets
0.32Weak
malunion fractureOpen Targets
0.31Weak
atrial flutterOpen Targets
0.30Weak
puerperal disorderOpen Targets
0.30Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.29Weak
pregnancy disorderOpen Targets
0.29Weak
response to xenobiotic stimulusOpen Targets
0.29Weak
Boudin-Mortier syndromeUniProt
Pathogenic Variants8
NM_001204375.2(NPR3):c.1229del (p.Gly410fs)Likely pathogenic
Boudin-Mortier syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 410
NM_001204375.2(NPR3):c.382C>T (p.Pro128Ser)Likely pathogenic
Boudin-Mortier syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 128
NM_001204375.2(NPR3):c.691_692del (p.Thr231fs)Likely pathogenic
Boudin-Mortier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 231
NM_001204375.2(NPR3):c.658dup (p.Val220fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 220
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val)Likely pathogenic
Boudin-Mortier syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 363
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro)Likely pathogenic
Boudin-Mortier syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 148
NM_001204375.2(NPR3):c.1524del (p.Lys507_Tyr508insTer)Pathogenic
Boudin-Mortier syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 507
NM_001204375.2(NPR3):c.248del (p.Val83fs)Pathogenic
Boudin-Mortier syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 83
View on ClinVar β†—
Drug Targets1
CARPERITIDEApproved
Atrial natriuretic peptide receptor agonist
congestive heart failure
Related Genes
NPPAProtein interaction100%NPPCProtein interaction100%NPTXRProtein interaction82%EMDProtein interaction80%GUCA2AProtein interaction80%GUCA2BProtein interaction80%
Tissue Expression6 tissues
Heart
100%
Lung
37%
Bone Marrow
14%
Liver
12%
Ovary
5%
Brain
1%
Gene Interaction Network
Click a node to explore
NPR3NPPANPPCNPTXREMDGUCA2AGUCA2B
PROTEIN STRUCTURE
Preparing viewer…
PDB1JDP Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.47–0.92]
RankingsWhere NPR3 stands among ~20K protein-coding genes
  • #5,370of 20,598
    Most Researched89
  • #958of 1,025
    FDA-Approved Drug Targets1
  • #3,061of 5,498
    Most Pathogenic Variants8
  • #8,437of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedNPR3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Polygenic prediction of preeclampsia and gestational hypertension.
PMID: 37248299
Nat Med Β· 2023
1.00
2
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
PMID: 37285119
JAMA Cardiol Β· 2023
0.90
3
Development and verification of a manganese metabolism- and immune-related genes signature for prediction of prognosis and immune landscape in gastric cancer.
PMID: 38807601
Front Immunol Β· 2024
0.80
4
Genetics of Cardiac Aging Implicate Organ-Specific Variation.
PMID: 39148824
medRxiv Β· 2024
0.70
5
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
PMID: 21909115
Nature Β· 2011
0.60