DISEASES

Disease-gene associations mined from literature

Literature associating BMPR2 and congenital heart disease

BMPR2 [ENSP00000363708]

Bone morphogenetic protein receptor, type II (serine/threonine kinase); 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 BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.

Synonyms:  BMPR2,  BMPR2p,  hBMPR2,  Q13873,  PPH1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM