GeneID: 152


Common Name: BMPR2 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_009363.1 (BMPR2)
HUGO Symbol: BMPR2 Full Name: bone morphogenetic protein receptor type 2
Exons: 13 Introns: 12

BMPR2 is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The BMPs are signalling molecules that belong to the transforming growth factor β (TGFβ) family of proteins and participate in several processes including cell growth, development, morphogenesis, apoptosis and immune responses. BMPs transduce their signal through the formation of heteromeric complexes with type-I and type-II receptors, which in turn activate downstream transcriptional regulators called SMADs. BMPR2 is a type-II receptor. Type-II receptors bind ligands but they require their respective type-I receptors for signalling. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. Polymorphisms in this gene were shown to influence HbF levels in the general population of Sardinia.

Synonyms: BMPR-II , PPH1 , BMPR3 , BRK-3 , T-ALK


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Publications / Origin

  1. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
  2. Miyazono K, Kamiya Y, Morikawa M, Bone morphogenetic protein receptors and signal transduction., J. Biochem. , 147(1), 35-51, 2010 PubMed
Created on 2016-05-19 15:49:30, Last reviewed on (Show full history)

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