Property Summary

NCBI Gene PubMed Count 73
PubMed Score 135.10
PubTator Score 295.25

Knowledge Summary

Patent (6,827)

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -2.200 1.7e-07
lung cancer -1.100 9.8e-04
breast carcinoma -1.100 1.6e-05
ductal carcinoma in situ -1.200 2.3e-03
invasive ductal carcinoma -1.800 7.0e-04
ovarian cancer -1.600 3.1e-12

 CSPA Cell Line (2)

Gene RIF (53)

PMID Text
26567084 Loss-of-function mutations of the NPR2 gene is associated with acromesomelic dysplasia, type maroteaux.
26075495 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.
25959430 3 consanguineous families segregating Acromesomelic dysplasia Maroteaux type in an autosomal recessive manner studied. Linkage in the families was established to the NPR2 gene on chromosome 9p12-21. Sequence analysis revealed 2 novel missense variants (p.Arg601Ser; p.Arg749Trp) in 2 families and a previously reported splice site variant (c.2986+2T>G) in the third family.
25703509 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
25117468 Cardiac fibrosis and the endogenous natriuretic peptide system were evaluated in end-stage heart failure to assess the anti-fibrotic actions of the dual GC-A/-B activator.
24699414 Molecular dynamics analysis indicated decreases in the values of Van der Waals, electrostatic energy and potential energy of NPRB/Vasonatrin peptide compared to NPRA/Vasonatrin peptide.
24471569 Identification of heterozygous dominant negative NPR2 mutations in 2% of Japanese patients with short stature.
24431432 In transgenic mice, complete absence of Npr2 activity prohibits the bifurcation of cranial sensory axons.
24259409 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
24001744 We identified heterozygous NPR2 mutations in 6% of patients initially classified as idiopathic short stature. Affected patients have mild and variable degrees of short stature without a distinct phenotype.
23835779 KIdney NPR2 protein quantity is significantly impacted by genetic variation.
23827346 study concludes V883M mutation increases maximal velocity in absence of C-type natriuretic peptide (CNP), eliminates requirement for ATP in the CNP-dependent Km reduction and disrupts normal inactivation process; established a molecular mechanism for how an amino acid substitution in GC-B activates the enzyme, which results in abnormally long and fragile bones
23586811 Although no novel phosphorylation sites that influenced the suppression of guanylate cyclase-B were identified, experiments revealed that mutations in Tyr808 markedly enhanced GC-B activity.
23186809 ACNP stimulated both human natriuretic peptide receptors (NPRs), NPRA and NPRB, as potent as their native ligands in receptor transfected cells.
22949736 Guanylyl cyclases A and B are asymmetric dimers that are allosterically activated by ATP binding to the catalytic domain.
22884919 Gene expression of C-type natriuretic peptide and of its specific receptor NPR-B in human leukocytes of healthy and heart failure subjects
22870295 An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.
22691581 Two novel missense mutations in the gene NPR2 were identified six consanguineous families of Pakistani origin. The presence of the same mutation (p. T907M) and haplotype in five families (A, B, C, D, E) is suggestive of a founder effect.
22645228 NPR2 expression in normal human fetal and adult pituitaries and adenomatous pituitary tissue suggests a role for these receptors in both pituitary development and oncogenesis.
22633662 Patients with BNP on admission greater than 150/pg/ml have higher probability of death in follow up.
22421372 Report the presence of CNP and its receptors, NPR2/3 in atherosclerotic plaques of human carotid artery.
22133375 GC-B activity is increased in non-myocytes from failing human ventricles, possibly as a result of increased fibrosis.
22039354 results provide evidence for a potential causal role of the B-type natriuretic peptide system in the aetiology of type 2 diabetes
21828054 Go6976 reduces GTP binding to the catalytic site of GC-A and GC-B and that ATP increases the magnitude of the inhibition.
21366551 Cellular exposure to Go6976 reduced basal and natriuretic peptide-dependent, but not detergent-dependent, GC-A and GC-B activity.
20977274 we identified and characterized new phosphorylation sites in GC-A and GC-B and provide the first evidence of phosphorylation sites within human guanylyl cyclases.
20700369 The data indicates that ANP, BNP, and CNP and natriuretic peptide receptor transcripts are expressed and are functional in human lens epithelial cells.
20664698 These studies showed the presence of NPR-A and NPR-B (mRNAs and protein) in human corneal epithelial tissue.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20600420 Data show that serum B-type natriuretic peptide strongly correlates with new-onset heart failure development at the optimal cut-off value of 175 pg/mL.
20123316 A polymorphism in natriuretic peptide receptor 2 influences the susceptibility to idiopathic dilated cardiomyopathy in a Chinese cohort.
20079378 Results show that VILIP-1 regulates the cell surface localization of natriuretic peptide receptor B.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19458086 Data indicate that the familial ANP mutation associated with atrial fibrillation has only minor effects on natriuretic peptide receptor interactions but markedly modifies peptide proteolysis.
19413180 It appears that subjects homozygous for C allele at position 381 of the BNP precursor gene promoter are more prone to develop atherosclerotic lesions in renal arteries.
19326473 Observational study of gene-disease association. (HuGE Navigator)
19167912 BNP level on arrival in the intensive care unit may support early diagnosis and allow optimal management of heart failure after aortic valve replacement
19108585 The extracellular domain of human GC-B folds independently of the remainder of the protein.
19086053 Observational study of gene-disease association. (HuGE Navigator)
18945719 Defective cellular trafficking of NPR-B resulted from missense mutation is associated with acromesomelic dysplasia-type Maroteaux.
17652215 intact kinase homology domain of NPR-B is essential for skeletal development
17429599 Study focus on the role of NPR-B and its ligand C-type natriuretic peptide in cardiovascular physiology and disease.
15911610 ATP does not activate NPRA and NPRB as has been repeatedly reported. Instead, ATP increases activity primarily by maintaining proper receptor phosphorylation status but also serves a previously unappreciated enzyme stabilizing function.
15911070 discussion of C-type natriuretic peptide and guanylyl cyclase B receptor [review]
15459247 NPR-A and NPR-B are desensitized in cells in which they are not internalized.
15371450 hyperosmotic and lysophosphatidic acid-dependent inhibition of NPRB is mediated by calcium-dependent phosphorylation
15262909 The 5' terminus of the hNPR-B gene transcript is ~732 base pairs upstream from the presumed translation start site. Its activity is dominated by a single cluster of Sp1-binding elements in the proximal 5' flanking sequence of the gene.
15146390 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
14988324 a marker for left ventricular dysfunction in diabetic patients.
12709393 NPR-B is highly expressed in glomeruli and proximal tubules, whereas NPR-Bi(the splice form) shows strong signals in the distal nephron
11556325 protein structure: ligand binding domains
11464256 Observational study of gene-disease association. (HuGE Navigator)
11208455 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MALPSLLLLVAALAGGVRPPGARNLTLAVVLPEHNLSYAWAWPRVGPAVALAVEALGRALPVDLRFVSSE      1 - 70
LEGACSEYLAPLSAVDLKLYHDPDLLLGPGCVYPAASVARFASHWRLPLLTAGAVASGFSAKNDHYRTLV     71 - 140
RTGPSAPKLGEFVVTLHGHFNWTARAALLYLDARTDDRPHYFTIEGVFEALQGSNLSVQHQVYAREPGGP    141 - 210
EQATHFIRANGRIVYICGPLEMLHEILLQAQRENLTNGDYVFFYLDVFGESLRAGPTRATGRPWQDNRTR    211 - 280
EQAQALREAFQTVLVITYREPPNPEYQEFQNRLLIRAREDFGVELGPSLMNLIAGCFYDGILLYAEVLNE    281 - 350
TIQEGGTREDGLRIVEKMQGRRYHGVTGLVVMDKNNDRETDFVLWAMGDLDSGDFQPAAHYSGAEKQIWW    351 - 420
TGRPIPWVKGAPPSDNPPCAFDLDDPSCDKTPLSTLAIVALGTGITFIMFGVSSFLIFRKLMLEKELASM    421 - 490
LWRIRWEELQFGNSERYHKGAGSRLTLSLRGSSYGSLMTAHGKYQIFANTGHFKGNVVAIKHVNKKRIEL    491 - 560
TRQVLFELKHMRDVQFNHLTRFIGACIDPPNICIVTEYCPRGSLQDILENDSINLDWMFRYSLINDLVKG    561 - 630
MAFLHNSIISSHGSLKSSNCVVDSRFVLKITDYGLASFRSTAEPDDSHALYAKKLWTAPELLSGNPLPTT    631 - 700
GMQKADVYSFGIILQEIALRSGPFYLEGLDLSPKEIVQKVRNGQRPYFRPSIDRTQLNEELVLLMERCWA    701 - 770
QDPAERPDFGQIKGFIRRFNKEGGTSILDNLLLRMEQYANNLEKLVEERTQAYLEEKRKAEALLYQILPH    771 - 840
SVAEQLKRGETVQAEAFDSVTIYFSDIVGFTALSAESTPMQVVTLLNDLYTCFDAIIDNFDVYKVETIGD    841 - 910
AYMVVSGLPGRNGQRHAPEIARMALALLDAVSSFRIRHRPHDQLRLRIGVHTGPVCAGVVGLKMPRYCLF    911 - 980
GDTVNTASRMESNGQALKIHVSSTTKDALDELGCFQLELRGDVEMKGKGKMRTYWLLGERKGPPGLL       981 - 1047
//

Text Mined References (75)

PMID Year Title
26980729 2016 Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.
26567084 2016 Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
26075495 2015 Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
25959430 2015 Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
25703509 2015 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
25342443 2014 Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
25117468 2014 Cardiac fibrosis in end-stage human heart failure and the cardiac natriuretic peptide guanylyl cyclase system: regulation and therapeutic implications.
24699414 2014 Vasonatrin peptide stimulates both of the natriuretic peptide receptors, NPRA and NPRB.
24471569 2014 Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
24431432 2014 Bifurcation of axons from cranial sensory neurons is disabled in the absence of Npr2-induced cGMP signaling.
24259409 2014 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
24057292 2013 An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.
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.
23835779 2013 Association of genetic variation with gene expression and protein abundance within the natriuretic peptide pathway.
23827346 2013 A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.
23586811 2013 Mutations in Tyr808 reveal a potential auto-inhibitory mechanism of guanylate cyclase-B regulation.
23186809 2013 Chimeric natriuretic peptide ACNP stimulates both natriuretic peptide receptors, the NPRA and NPRB.
22949736 2012 Guanylyl cyclases A and B are asymmetric dimers that are allosterically activated by ATP binding to the catalytic domain.
22884919 2012 Gene expression of C-type natriuretic peptide and of its specific receptor NPR-B in human leukocytes of healthy and heart failure subjects.
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.
22691581 2012 Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
22645228 2012 Expression of guanylyl cyclase-B (GC-B/NPR2) receptors in normal human fetal pituitaries and human pituitary adenomas implicates a role for C-type natriuretic peptide.
22633662 2012 Admission B-type natriuretic peptide retains prognostic value in patients with acute coronary syndrome and preserved left ventricular ejection fraction.
22421372 2012 C-type natriuretic peptide and its receptors in atherosclerotic plaques of the carotid artery of clinically asymptomatic patients.
22133375 2012 Guanylyl cyclase (GC)-A and GC-B activities in ventricles and cardiomyocytes from failed and non-failed human hearts: GC-A is inactive in the failed cardiomyocyte.
22039354 2011 Mendelian randomization study of B-type natriuretic peptide and type 2 diabetes: evidence of causal association from population studies.
21828054 2011 ATP potentiates competitive inhibition of guanylyl cyclase A and B by the staurosporine analog, Gö6976: reciprocal regulation of ATP and GTP binding.
21366551 2011 The indolocarbazole, Gö6976, inhibits guanylyl cyclase-A and -B.
20977274 2010 Mass spectrometric identification of phosphorylation sites in guanylyl cyclase A and B.
20700369 2010 Characterization and functional expression of the natriuretic peptide system in human lens epithelial cells.
20664698 2010 NPR-B natriuretic peptide receptors in human corneal epithelium: mRNA, immunohistochemistochemical, protein, and biochemical pharmacology studies.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20600420 2010 B-type natriuretic peptide in outpatients after myocardial infarction: optimized cut-off value for incident heart failure prediction.
20123316 2010 Polymorphisms of beta-adrenoceptor and natriuretic peptide receptor genes influence the susceptibility to and the severity of idiopathic dilated cardiomyopathy in a Chinese cohort.
20079378 2010 Visinin-like protein 1 regulates natriuretic peptide receptor B in the heart.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19458086 2009 A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation.
19413180 2009 SNP rs198389 (T-381 C) polymorphism in the B-type natriuretic peptide gene promoter in patients with atherosclerotic renovascular hypertension.
19326473 2009 Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
19167912 2009 B-type natriuretic peptide as a predictor of postoperative heart failure after aortic valve replacement.
19108585 2009 The membrane proximal extracellular domain of human hGC-B folds independently.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18945719 2009 Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
17652215 2007 Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
17429599 2007 Natriuretic peptide receptor B signaling in the cardiovascular system: protection from cardiac hypertrophy.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
15911610 2005 ATP-independent activation of natriuretic peptide receptors.
15911070 2005 C-type natriuretic peptide and guanylyl cyclase B receptor.
15722353 2005 A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15459247 2005 Down-regulation does not mediate natriuretic peptide-dependent desensitization of natriuretic peptide receptor (NPR)-A or NPR-B: guanylyl cyclase-linked natriuretic peptide receptors do not internalize.
15371450 2004 Calcium-dependent dephosphorylation mediates the hyperosmotic and lysophosphatidic acid-dependent inhibition of natriuretic peptide receptor-B/guanylyl cyclase-B.
15262909 2004 Transcriptional regulation of type B human natriuretic Peptide receptor gene promoter: dependence on Sp1.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
14988324 2004 Utility of B-type natriuretic peptide as a screen for left ventricular dysfunction in patients with diabetes: response to Epshteyn et al.
14759258 2004 An unappreciated role for RNA surveillance.
14687666 2004 Differentiation of human monocytes in vitro with granulocyte-macrophage colony-stimulating factor and macrophage colony-stimulating factor produces distinct changes in cGMP phosphodiesterase expression.
12709393 2003 Signaling and distribution of NPR-Bi, the human splice form of the natriuretic peptide receptor type B.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12022755 2002 The atrial natriuretic peptide as a regulator of Kupffer cell functions.
11556325 2001 Structural insights into the ligand binding domains of membrane bound guanylyl cyclases and natriuretic peptide receptors.
11464256 2001 Systematic screening of type B human natriuretic peptide receptor gene polymorphisms and association with essential hypertension.
11208455 A C2077T polymorphism of the type B human natriuretic peptide receptor gene is not associated with myocardial infarction.
10082481 1999 Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension.
10073597 1999 cGMP-dependent and -independent inhibition of a K+ conductance by natriuretic peptides: molecular and functional studies in human proximal tubule cells.
9634515 1998 Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
9624142 1998 Identification and characterization of the major phosphorylation sites of the B-type natriuretic peptide receptor.
8765168 1996 Production of polyclonal antibody specific for human natriuretic peptide receptor B.
7679284 1993 Cloning and expression of an ATP-regulated human retina C-type natriuretic factor receptor guanylate cyclase.
2570358 1989 Differential activation by atrial and brain natriuretic peptides of two different receptor guanylate cyclases.
1979052 1990 Chromosomal distribution of three members of the human natriuretic peptide receptor/guanylyl cyclase gene family.
1672777 1991 Selective activation of the B natriuretic peptide receptor by C-type natriuretic peptide (CNP).
1660465 1991 Extracellular domain-IgG fusion proteins for three human natriuretic peptide receptors. Hormone pharmacology and application to solid phase screening of synthetic peptide antisera.
1327579 1992 Molecular biology of the natriuretic peptides and their receptors.