Aliases for BMPR1B Gene
External Ids for BMPR1B Gene
Previous GeneCards Identifiers for BMPR1B 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 2 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. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
GeneCards Summary for BMPR1B Gene
BMPR1B (Bone Morphogenetic Protein Receptor Type 1B) is a Protein Coding gene. Diseases associated with BMPR1B include Brachydactyly, Type A2 and Acromesomelic Dysplasia, Demirhan Type. Among its related pathways are Axon guidance and ERK Signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR2.
UniProtKB/Swiss-Prot for BMPR1B 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. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.