NPR2

Chr 9

natriuretic peptide receptor 2

Also known as: AMDM, ANPRB, ANPb, ECDM, GC-B, GCB, GUC2B, GUCY2B

NCBI Gene: 4882ENSG00000159899UniProt: P20594

This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAcromesomelic dysplasia 1
UniProtEpiphyseal chondrodysplasia, Miura type
UniProtShort stature with non-specific skeletal abnormalities 1

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
38
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.49
LOEUF
LOF
Mechanism· G2P
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GeneReview available — NPR2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.000
Z-score 4.54
OE 0.33 (0.23–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.96Z-score
OE missense 0.66 (0.61–0.72)
398 obs / 602.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.33 (0.23–0.49)
0≤0.351.4
Missense OE?0.66 (0.61–0.72)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 18 / 54.0Missense obs/exp: 398 / 602.3Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients