NPR2 explained

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.^[1]

A mutation in the NPR2 gene can result in achondroplasia and disproportionate dwarfism with short limbs.^[2]

See also

• Atrial natriuretic peptide receptor
• Dwarfism

Further reading

• Fox AA, Collard CD, Shernan SK, Seidman CE, Seidman JG, Liu KY, Muehlschlegel JD, Perry TE, Aranki SF, Lange C, Herman DS, Meitinger T, Lichtner P, Body SC . 6 . Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting . Anesthesiology . 110 . 4 . 738–47 . April 2009 . 19326473 . 2735337 . 10.1097/ALN.0b013e31819c7496 .
• Potthast R, Abbey-Hosch SE, Antos LK, Marchant JS, Kuhn M, Potter LR . Calcium-dependent dephosphorylation mediates the hyperosmotic and lysophosphatidic acid-dependent inhibition of natriuretic peptide receptor-B/guanylyl cyclase-B . The Journal of Biological Chemistry . 279 . 47 . 48513–9 . November 2004 . 15371450 . 10.1074/jbc.M408247200 . free .
• Liew D, Schneider H, D'Agostino J, Shaw J, Krum H . Utility of B-type natriuretic peptide as a screen for left ventricular dysfunction in patients with diabetes: response to Epshteyn et al . Diabetes Care . 27 . 3 . 848; author reply 848-9 . March 2004 . 14988324 . 10.2337/diacare.27.3.848 . free .
• Antos LK, Abbey-Hosch SE, Flora DR, Potter LR . ATP-independent activation of natriuretic peptide receptors . The Journal of Biological Chemistry . 280 . 29 . 26928–32 . July 2005 . 15911610 . 10.1074/jbc.M505648200 . free .
• Poreba R, Poczatek K, Gać P, Poreba M, Gonerska M, Jonkisz A, Derkacz A, Negrusz-Kawecka M, Sobieszczańska M, Pilecki W, Szuba A, Andrzejak R . 6 . SNP rs198389 (T-381 C) polymorphism in the B-type natriuretic peptide gene promoter in patients with atherosclerotic renovascular hypertension . Polskie Archiwum Medycyny Wewnetrznej . 119 . 4 . 219–24 . April 2009 . 19413180 .
• Koller KJ, Goeddel DV . Molecular biology of the natriuretic peptides and their receptors . Circulation . 86 . 4 . 1081–8 . October 1992 . 1327579 . 10.1161/01.cir.86.4.1081 . free .
• Fan D, Bryan PM, Antos LK, Potthast RJ, Potter LR . 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 . Molecular Pharmacology . 67 . 1 . 174–83 . January 2005 . 15459247 . 10.1124/mol.104.002436 . 53520 .
• Pagel-Langenickel I, Buttgereit J, Bader M, Langenickel TH . Natriuretic peptide receptor B signaling in the cardiovascular system: protection from cardiac hypertrophy . Journal of Molecular Medicine . 85 . 8 . 797–810 . August 2007 . 17429599 . 10.1007/s00109-007-0183-4 . 42834676 .
• Rahmutula D, Cui J, Chen S, Gardner DG . Transcriptional regulation of type B human natriuretic Peptide receptor gene promoter: dependence on Sp1 . Hypertension . 44 . 3 . 283–8 . September 2004 . 15262909 . 10.1161/01.HYP.0000136908.60317.92 . free .
• Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR . 6 . Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux . Human Molecular Genetics . 18 . 2 . 267–77 . January 2009 . 18945719 . 2638773 . 10.1093/hmg/ddn354 .
• Schulz S . C-type natriuretic peptide and guanylyl cyclase B receptor . Peptides . 26 . 6 . 1024–34 . June 2005 . 15911070 . 10.1016/j.peptides.2004.08.027 . 24299700 .
• Dickey DM, Yoder AR, Potter LR . A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation . The Journal of Biological Chemistry . 284 . 29 . 19196–202 . July 2009 . 19458086 . 2740543 . 10.1074/jbc.M109.010777 . free .
• Nozohoor S, Nilsson J, Lührs C, Roijer A, Algotsson L, Sjögren J . B-type natriuretic peptide as a predictor of postoperative heart failure after aortic valve replacement . Journal of Cardiothoracic and Vascular Anesthesia . 23 . 2 . 161–5 . April 2009 . 19167912 . 10.1053/j.jvca.2008.11.006 .
• Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y . 6 . Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development . The Journal of Clinical Endocrinology and Metabolism . 92 . 10 . 4009–14 . October 2007 . 17652215 . 10.1210/jc.2007-1101 . free .
• Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A . 6 . 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 . American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics . 150B . 6 . 808–16 . September 2009 . 19086053 . 10.1002/ajmg.b.30902 . 44524739 . free .
• Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML . 6 . Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux . American Journal of Human Genetics . 75 . 1 . 27–34 . July 2004 . 15146390 . 1182004 . 10.1086/422013 .
• van den Akker F . Structural insights into the ligand binding domains of membrane bound guanylyl cyclases and natriuretic peptide receptors . Journal of Molecular Biology . 311 . 5 . 923–37 . August 2001 . 11556325 . 10.1006/jmbi.2001.4922 .

Notes and References

1. Web site: Entrez Gene: NPR2 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B).
2. Tsuji T, Kunieda T . A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse . The Journal of Biological Chemistry . 280 . 14 . 14288–92 . April 2005 . 15722353 . 10.1074/jbc.C500024200 . free .