Natriuretic peptide receptor B (NPR2), also known as atrionatriuretic peptide receptor B and formerly as guanylate cyclase B, is an atrial natriuretic peptide receptor which in humans is encoded by the NPR2 gene. [5] A mutation in the NPR2 gene can result in achondroplasia and disproportionate dwarfism with short limbs. [6]

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2024年12月25日 · NPR2 (Natriuretic Peptide Receptor 2) is a Protein Coding gene. Diseases associated with NPR2 include Acromesomelic Dysplasia 1 and Epiphyseal Chondrodysplasia, Miura Type. Among its related pathways are Cardiac conduction and Sweet Taste Signaling.

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2021年1月23日 · Context: The natriuretic peptide receptor 2 gene (NPR2) is a causative gene of idiopathic short stature (ISS) with an incidence rate of 2% to 6%. The clinical characteristics of patients with NPR2 heterozygous mutations are atypical, and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with NPR2 mutations ...

Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. Gene expression of C-type natriuretic peptide and of its specific receptor NPR-B in human leukocytes of healthy and heart failure subjects

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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 …

NPR-B is a homodimer receptor expressed in the cell membrane of diverse tissues like bone, brain, fibroblasts, kidney, liver, lung, uterus, and vascular smooth muscle tissue. NPR-B is a 1047 amino acid protein encoded by NPR2, which contains 22 exons and spans 16.5 kb on chromosome 9p13.3.

Synonym (s): ANPb, GC-B, GUCY2B, guanylate cyclase 2B, guanylyl cyclase B. Previous symbol (s) and name (s): AMDM, ANPRB, NPRB, acromesomelic dysplasia, Maroteaux type, atrionatriuretic peptide receptor B, natriuretic peptide receptor B. Type: gene with protein product. Chromosomal location: 9p13.3. OMIM: 108961. HGNC: 7944. UniProtKB: P20594.