|CD292||BMPR1A (bone morphogenetic protein receptor type 1A), ALK3, ACVRLK3|
|Molecule Type||Antigen Expression||Molecular Weight|
Min / Max
|Non-lineage Restricted Molecule|
Type 1 glycoprotein
|Bone Progenitor Cell|
|50 / 50|
58 / 58
|CD292 is expressed on bone progenitor cells, chondrocytes, epithelial cells of epidermis, hair follicles and mesenchymal cells, neurons, intestine and skeletal muscle.|
|MOLECULAR FAMILY NAME: Belongs to the transmembrane serine/threonine kinase family.|
CD292 is a single-pass type-1 509 aa glycoprotein. It contains a 23 aa signal sequence, an 129 aa extracellular domain which contains an activin receptor and a potential N-glycosylation site, a 24 aa transmembrane domain and a 356 aa intracellular cytoplasmic domain which contains a TGFβ-like domain, a protein kinase domain and 2 ATP-binding sites. CD291 belongs to the bone morphogenetic protein receptor family of transmembrane serine/threonine kinases that include type-1 receptors CD292 and CDw293 and the type-2 receptors are members of the TGF-β superfamily. Magnesium or manganese is required as a cofactor for enzymatic activity.
POST-TRANSCRIPTIONAL MODIFICATION: No information.
CD292 has one potential glycosylation site.
|LIGANDS AND MOLECULE ASSOCIATED WITH CD292|
CD292 binds bone morphogenetic protein (BMP)-2 and BMP-4.
|CD292 plays a role in embryonic development, inducing cell proliferation and differentiation in multiple embryonic tissues. It forms part of a tetrameric receptor which consisting of two CD292 molecules and two bone morphogenetic protein receptors (BMPRII) molecules. Ligand binding activates CD292 which phosphorylates the serine (threonine) kinase receptors enabling activation of SMAD transcriptional regulators. Bone development and chondrogenesis are regulated by CD292 and CDw293 which appear to have overlapping functions.|
BIOCHEMICAL ACTIVITY: No information.
DISEASE RELEVANCE AND FUNCTION OF CD292 IN INTACT ANIMAL
CD292 binds important regulators of bone formation and the development of the embryo and is also involved in kinase and regulation of hair morphogenesis and embryogenesis. Studies of CD292 conditional mutant mice have shown that it regulates differentiation and proliferation of hair follicle epithelium and is required for the completion of tooth morphogenesis, the development of atrioventricular valves and annulus fibrosis of the heart and the development of the spinal cord and skeleton. Defects in CD292 are the cause of 25-40% of cases of juvenile intestinal polyposis syndrome, hereditary mixed polyposis syndrome, and Cowden disease (an autosomal cancer sydrome). Cowden disease is an autosomal dominant cancer sydrome characterized by multiple hamartomas and a high risk of breast, thyroid and endometrial cancers.
PROTEINS AND DNA ELEMENTS WHICH REGULATE TRANSCRIPTION OF CD292: No information.
SUBSTRATES: No information.
ENZYMES WHICH MODIFY CD292: No information.
For further information see ten Dijke, P. et al (1994) J. Biol.Chem. 26: 16985-16988.
Database accession numbers
Revised June 25, 2008