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NPR2 Gene - GeneCards | ANPRB Protein | ANPRB Antibody
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NPR2
WebJan 3, 2024 · GeneCards Summary for NPR2 Gene. 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
https://academic.oup.com/jcem/article/106/2/431/5986710
WebNov 17, 2020 · 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 …
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NPR2 - Wikipedia
https://en.wikipedia.org/wiki/NPR2
WebNatriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B), also known as NPR2, is an atrial natriuretic peptide receptor. In humans it is encoded by the NPR2 gene. A mutation of the NPR2 gene can result …
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Distinct submembrane localisation compartmentalises cardiac NPR1 …
https://www.nature.com/articles/s41467-018-04891-5
WebJun 22, 2018 · Natriuretic peptides (NPs) are important hormones that regulate multiple cellular functions including cardiovascular physiology. In the heart, two natriuretic peptide receptors NPR1 and NPR2 act...
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NPR2 natriuretic peptide receptor 2 [ (human)] - National Center …
https://www.ncbi.nlm.nih.gov/gene/4882
WebHeterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. NPR2 mutations account for approximately 3% of patients with disproportionate short stature and/or clinical or radiographic indicators of SHOX deficiency and in whom no SHOX defect has been identified.
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Entry - *108961 - NATRIURETIC PEPTIDE RECEPTOR 2; NPR2 …
https://www.omim.org/entry/108961
WebOct 14, 2021 · Description. The NPR2 gene encodes a guanylate cyclase that catalyzes the conversion of intracellular guanosine triphosphate (GTP) to cyclic guanosine monophosphate (cGMP) (summary by Miura et al., 2014 ). Cloning and Expression.
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NPR2 natriuretic peptide receptor 2 [ Homo sapiens (human) ]
https://www.ncbi.nlm.nih.gov/gene?Cmd=DetailsSearch&Term=4882
WebMar 1, 2024 · NPR2 provided by HGNC. Official Full Name. natriuretic peptide receptor 2 provided by HGNC. Primary source. HGNC:HGNC:7944. AllianceGenome:HGNC:7944. Lineage. Also known as. Summary. This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides.
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Clinical Characteristics of Short-Stature Patients With an NPR2
https://pubmed.ncbi.nlm.nih.gov/33205215/
WebJan 23, 2021 · 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 …
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Regulation of the Natriuretic Peptide Receptor 2 (Npr2) by
https://pubmed.ncbi.nlm.nih.gov/30249793/
WebNov 7, 2018 · The natriuretic peptide receptor 2 (Npr2), a transmembrane guanylyl cyclase, is essential for the initiation of bifurcation of sensory axons when entering the spinal cord or the hindbrain. By using two genetically engineered mouse lines, we show that phosphorylation of specific serine and threonine residues in juxtamembrane regions of …
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NPR2 natriuretic peptide receptor 2 - NIH Genetic Testing …
https://www.ncbi.nlm.nih.gov/gtr/genes/4882/
WebMar 5, 2024 · NPR2. natriuretic peptide receptor 2. Gene ID: 4882, updated on 23-Nov-2023. Gene type: protein coding. Also known as: GCB; AMD1; AMDM; ANPb; ECDM; GC-B; NPRB; SNSK; ANPRB; GUC2B; NPRBi; GUCY2B. See all available tests in GTR for this gene. Go to complete Gene record for NPR2. Go to Variation Viewer for NPR2 variants.
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