NPR2
Chr 9ARADnatriuretic peptide receptor 2
Also known as: AMDM, ANPRB, ANPb, ECDM, GC-B, GCB, GUC2B, GUCY2B
This gene encodes natriuretic peptide receptor B, which serves as the primary receptor for C-type natriuretic peptide and exhibits guanylyl cyclase activity upon ligand binding to regulate skeletal growth. Mutations cause acromesomelic dysplasia Maroteaux type, epiphyseal chondrodysplasia Miura type, and short stature with nonspecific skeletal abnormalities through both autosomal recessive and autosomal dominant inheritance patterns. The gene shows very low intolerance to loss-of-function variants (pLI 0.00004, LOEUF 0.495), indicating tolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NPR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools