NPR3 Chromosome 5
Natriuretic peptide receptor 3
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What This Gene Does
This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
DENN domain containing
Locus Type
gene with protein product
Location
5p13.3
Ensembl
ENSG00000113389
Associated Conditions (3)
Inborn genetic diseases
NPR3-related disorder
Boudin-Mortier syndrome
Key Variants
RS142228984
Conflicting classifications of pathogenicity
Inborn genetic diseases, NPR3-related disorder, Inborn genetic diseases
Health Risk
RS186814909
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752059527
Conflicting classifications of pathogenicity
Boudin-Mortier syndrome, Boudin-Mortier syndrome
Health Risk
RS1433125500
Likely pathogenic
Boudin-Mortier syndrome, Boudin-Mortier syndrome
Health Risk
RS1741953064
Likely pathogenic
Boudin-Mortier syndrome, Boudin-Mortier syndrome
Health Risk
RS2111840582
Pathogenic
Boudin-Mortier syndrome, Boudin-Mortier syndrome
Health Risk
RS753386861
Pathogenic
Boudin-Mortier syndrome, Boudin-Mortier syndrome
Health Risk
RS772949649
Pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142228984 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, NPR3-related disorder, Inborn genetic diseases |
| RS186814909 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752059527 | Health Risk | Conflicting classifications of pathogenicity | Boudin-Mortier syndrome, Boudin-Mortier syndrome |
| RS1433125500 | Health Risk | Likely pathogenic | Boudin-Mortier syndrome, Boudin-Mortier syndrome |
| RS1741953064 | Health Risk | Likely pathogenic | Boudin-Mortier syndrome, Boudin-Mortier syndrome |
| RS2111840582 | Health Risk | Pathogenic | Boudin-Mortier syndrome, Boudin-Mortier syndrome |
| RS753386861 | Health Risk | Pathogenic | Boudin-Mortier syndrome, Boudin-Mortier syndrome |
| RS772949649 | Health Risk | Pathogenic | — |