| Gene Symbol | BMPR2 |
| Entrez Gene ID | 659 |
| Full Name | bone morphogenetic protein receptor type 2 |
| Synonyms | BMPR-II,BMPR3,BMR2,BRK-3,POVD1,PPH1,T-ALK |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3); Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3); Pulmonary venoocclusive disease 1, 265450 (3) |
User Manual
