Aliases for BMPR2 Gene
External Ids for BMPR2 Gene
Previous Symbols for BMPR2 Gene
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]
GeneCards Summary for BMPR2 Gene
BMPR2 (Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase)) is a Protein Coding gene. Diseases associated with BMPR2 include pulmonary venoocclusive disease 1 and pulmonary hypertension. Among its related pathways are Signaling by GPCR and Akt Signaling. GO annotations related to this gene include transforming growth factor beta-activated receptor activity and activin receptor activity, type II. An important paralog of this gene is TGFBR2.
UniProtKB/Swiss-Prot for BMPR2 Gene
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs