BMPR2 Gene

The BMPR2 gene (BMPR2 is the acronym for: Bone Morphogenetic Protein Receptor Type 2) is a protein coding gene located on chromosome 2q33.1-q33.2. The BMPR2 gene This gene encodes a member of the transmembrane serine/threonine kinase family of bone morphogenetic protein (BMP) receptors. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins relay their signals by forming 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. Mutations in this gene are associated with primary pulmonary hypertension (both familial and fenfluramine-associated), and with autosomal dominant pulmonary veno-occlusive disease.

The receptor proteins Bmpr2 and Acvr2a influence hair pigmentation. Animal experiments have shown that reduced activity of Bmpr2 and Acvr2 leads to early graying (Han R et al. 2012).

1. Han R et al. (2012) Apair of transmembrane receptors essential for the retention and pigmentation of hair. Genesis 50:783-800.