Gene: BMPR1A

Alternate names for this Gene: 10q23del|ACVRLK3|ALK3|CD292|SKR5

Gene Summary: The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.2

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

Type of Gene: protein-coding

rs112669180 in BMPR1A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1060503408 in BMPR1A gene and Juvenile polyposis syndrome PMID 11536076 2001 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

PMID 11381269 2001 Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 21872883 2011 SP1 regulates the transcription of BMPR1A.

PMID 20843829 2010 Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.

PMID 22067610 2012 BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

PMID 12630959 2003 Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.

PMID 12136244 2002 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 18823382 2009 The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

PMID 19438883 2010 Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.

PMID 16525031 2006 Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.

PMID 23433720 2013 BMPR1A mutations in juvenile polyposis affect cellular localization.

PMID 8397373 1993 Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.

rs1057517610 in BMPR1A gene and Neoplastic Syndromes, Hereditary PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

PMID 23433720 2013 BMPR1A mutations in juvenile polyposis affect cellular localization.

PMID 18823382 2009 The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

PMID 14734220 2004 Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns.

PMID 18262054 2008 A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

PMID 15064755 2004 Molecular recognition of BMP-2 and BMP receptor IA.

PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

PMID 11381269 2001 Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

PMID 12136244 2002 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

PMID 11536076 2001 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

PMID 10881198 2000 Crystal structure of the BMP-2-BRIA ectodomain complex.

PMID 9371495 1997 Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

PMID 22799562 2012 Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

PMID 18178612 2008 Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.

rs117800588 in BMPR1A gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.