Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bone morphogenetic protein receptor type-1B

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]


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Acromesomelic dysplasia, Demirhan type
Brachydactyly type A1, D
Brachydactyly type A2



Cejalvo T et al. (2007) Bone morphogenetic protein-2/4 signalling pathway components are expressed in the human thymus and inhibit early T-cell development.


Demirhan O et al. (2005) A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.


Graul-Neumann LM et al. (2014) Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.


Stange K et al. (2015) A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.


Lehmann K et al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.


Racacho L et al. (2015) Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.


Lehmann K et al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.


ten Dijke P et al. (1994) Characterization of type I receptors for transforming growth factor-beta and activin.


Ide H et al. (1997) Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs.


Ide H et al. (1998) Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping.


Aström AK et al. (1999) Chromosomal localization of three human genes encoding bone morphogenetic protein receptors.


Yoon BS et al. (2005) Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo.


NCBI article

NCBI 658 [^]

OMIM.ORG article

Omim 603248 [^]

Orphanet article

Orphanet ID 119053 [^]

Wikipedia article

Wikipedia EN (BMPR1B) [^]
Update: April 29, 2019