Gene: BMPR2

Alternate names for this Gene: BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK

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 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 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 have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.1-q33.2

Description of this Gene: bone morphogenetic protein receptor type 2

Type of Gene: protein-coding

rs1991371 in BMPR2 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs67714233 in BMPR2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10200587 in BMPR2 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs12477602 in BMPR2 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs2350809 in BMPR2 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1085307185 in BMPR2 gene and PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED PMID 12358323 2002 BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

rs1006246556 in BMPR2 gene and Pulmonary Hypertension, Primary, 1 PMID 19223935 2009 Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.

PMID 26387786 2015 Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

PMID 21801371 2011 Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

PMID 20534176 2010 Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.

PMID 20002458 2010 Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

PMID 16429395 2006 Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

PMID 15591269 2004 Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

PMID 17641158 2007 Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension.

PMID 15146475 2004 BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

PMID 21737554 2012 Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

PMID 18221724 2008 [Mutations in the gene encoding bone morphogenetic protein receptor 2 in patients with idiopathic pulmonary arterial hypertension].

PMID 22632830 2012 Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

PMID 20095988 2010 Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.

PMID 15687131 2005 Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

PMID 23592887 2013 TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

PMID 18356561 2008 Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

PMID 19555857 2009 Genetics and genomics of pulmonary arterial hypertension.

PMID 18503968 2008 Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.

PMID 18159113 2008 Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

PMID 11115378 2001 BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

PMID 11015450 2000 Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.

PMID 16717148 2006 Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

PMID 15055271 2004 Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.

PMID 23579436 2013 Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.

PMID 20496075 2010 A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian.

PMID 12821254 2003 Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.

PMID 16728714 2006 High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

PMID 23675998 2013 Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.

PMID 10903931 2000 Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

PMID 12358323 2002 BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

PMID 10973254 2000 Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.

PMID 15965979 2005 BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

PMID 24936649 2014 Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

PMID 28507310 2017 Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

PMID 25187962 2014 Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

PMID 23298310 2013 Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

PMID 18386374 2008 Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary.

PMID 23139147 2014 The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.

PMID 25612240 2015 De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.

PMID 19206171 2009 Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

PMID 18364108 2008 A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.

PMID 25429696 2015 Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.

PMID 12045205 2002 Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.

PMID 15170098 2004 Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension.

PMID 14516151 2003 Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation.

PMID 15059534 2004 [Clinical and genetic characteristics of a Chinese family of primary pulmonary hypertension].

PMID 11502704 2001 Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins.

PMID 14985116 2004 Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension.

PMID 20096498 2010 [Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

PMID 14583445 2003 Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.

PMID 24132125 2013 A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension.

PMID 29650961 2018 Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

PMID 24591673 2014 Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient.

PMID 12139571 2002 Novel nonsense mutation of the BMPR-II gene in a Japanese patient with familial primary pulmonary hypertension.

rs1085307300 in BMPR2 gene and Pulmonary Veno-Occlusive Disease (disorder) PMID 16429395 2006 Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

rs1085307167 in BMPR2 gene and Pulmonary arterial hypertension associated with congenital heart disease PMID 15358693 2004 BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

PMID 30029678 2018 Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

rs6435149 in BMPR2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6435149 in BMPR2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10200587 in BMPR2 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2350809 in BMPR2 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.