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Article

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.

American journal of human genetics - 8 Jan 2026

Jeong Raehoon, Covarrubias Sergio, Shanghavi Devanshi, Ruhrmund Donald, Estrada Karol, Zhou Dejie, Marom Nofar, Bauer Christopher R, Froelich Steven

Abstract excerpt

Human height is a complex trait regulated by genetic and environmental factors. Several components of chondrocyte proliferation and differentiation regulatory pathways are implicated in short-stature disorders; one such component is natriuretic peptide receptor 2 (NPR2), the receptor for C-type natriuretic peptide. We developed a high-throughput GFP reporter assay to evaluate the functional impact of NPR2...

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Share to Body Height
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CNP gene

Share to HEK293 Cells

Share to Loss of Function Mutation

Share to Mutation, Missense

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Share to Receptors, Atrial Natriuretic Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 41512838
DOI: 10.1016/j.ajhg.2025.12.006
PMCID: PMC12824620

Genes

NPR2
CNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.Semantic proximity Read ↗

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Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.Semantic proximity Read ↗

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 GeneSemantic proximity Read ↗

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