Gene: NPR2

Alternate names for this Gene: AMDM|ANPRB|ANPb|ECDM|GC-B|GCB|GUC2B|GUCY2B|NPRB|NPRBi|SNSK

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: natriuretic peptide receptor 2

Type of Gene: protein-coding

rs1303913631 in NPR2 gene and ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 26980729 2016 Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.

PMID 17652215 2007 Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.

PMID 23065701 2013 A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

rs114147262 in NPR2 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1554672061 in NPR2 gene and Dysmorphic features PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 24259409 2014 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

PMID 25703509 2015 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

rs1554672893 in NPR2 gene and EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 23065701 2013 A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

PMID 24057292 2013 An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.

PMID 24259409 2014 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

PMID 22870295 2012 An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.

PMID 23827346 2013 A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.

rs139036657 in NPR2 gene and SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES PMID 24471569 2014 Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

PMID 24001744 2013 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.