BMPR2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BMPR2 wild-type allele is located within 2q33-q34 and is approximately 191 kb in length. This allele, which encodes bone morphogenetic protein receptor type-2 protein, plays a role in endochondral bone formation, signal transduction and embryogenesis. Mutations in this gene have been associated with primary pulmonary hypertension.

**Synonyms:** - BMPR-II - BMPR2 - BMPR3 - BMR2 - BRK-3 - Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) wt Allele - PPH1 - Primary Pulmonary Hypertension 1 Gene - T-ALK