
NPR2 - Wikipedia
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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NPR2 Gene - GeneCards | ANPRB Protein | ANPRB Antibody
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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Clinical Characteristics of Short-Stature Patients With an NPR2 ...
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 ...
4882 - Gene ResultNPR2 natriuretic peptide receptor 2 [ (human)]
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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NPR2 - Genes - GTR - NCBI
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 …
NPR2 - an overview | ScienceDirect Topics
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.
Orphanet: NPR2-natriuretic peptide receptor 2
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.