Gene: BMPR1B

Alternate names for this Gene: ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q22.3

Description of this Gene: bone morphogenetic protein receptor type 1B

Type of Gene: protein-coding

rs869025614 in BMPR1B gene and BRACHYDACTYLY, TYPE A1, D PMID 25758993 2015 Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

rs121434417 in BMPR1B gene and BRACHYDACTYLY, TYPE A2 PMID 16957682 2006 A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

PMID 14523231 2003 Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

PMID 16957682 2006 Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B.

PMID 16957682 2006 Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B.

rs12645001 in BMPR1B gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1434538 in BMPR1B gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs1544387 in BMPR1B gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs17616243 in BMPR1B gene and Schizophrenia PMID 30470734 2018 Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia.

rs1347345 in BMPR1B gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.