Property Summary

NCBI Gene PubMed Count 117
PubMed Score 194.12
PubTator Score 133.33

Knowledge Summary

Patent (20,298)


  Differential Expression (7)

Disease log2 FC p
psoriasis -1.100 5.2e-07
astrocytoma 1.100 2.6e-15
osteosarcoma -1.504 4.0e-04
atypical teratoid/rhabdoid tumor 1.300 8.2e-05
pilocytic astrocytoma 1.200 1.6e-04
posterior fossa group A ependymoma 1.100 8.9e-05
ovarian cancer -1.400 1.2e-07

Protein-protein Interaction (10)

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448
686923 other 8 / 0 / 2 In vitrocounter assay of key BMP4 Inhibitors

Gene RIF (73)

26585335 BMPR1A(+) ASCs show an enhanced ability for adipogenesis in vitro, as shown by gene expression and histological staining.
26383923 Duplication of 10q22.3-q23.3 encompassing BMPR1A gene is associated with congenital heart disease, microcephaly, and mild intellectual disability
26274893 Authors analyzed human databases from TCGA and survival data from microarrays to confirm BMPR1a tumor promoting functions, and found that high BMPR1a gene expression correlates with decreased survival regardless of molecular breast cancer subtype.
26171675 About half of BMPR1A-related polyps displayed loss of heterozygosity, predominantly in the epithelial compartment, compatible with BMPR1A acting as a tumour suppressor gene.
25129392 This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
24966941 The mRNA/protein expressions of BMPR1alpha was higher in the stenotic colon segment tissue than in the normal colon segment tissue of Hirschsrung disease patients.
24904118 results provide evidence that HFE induces hepcidin expression via the BMP pathway: HFE interacts with ALK3 to stabilize ALK3 protein and increase ALK3 expression at the cell surface.
24882581 Results support a novel role for miR-885-3p in tumor angiogenesis by targeting BMPR1A, which regulates a proangiogenic factor.
24850914 Data show that USP15 enhances BMP-induced phosphorylation of SMAD1 by interacting with and deubiquitylating ALK3.
24480809 High BMPR1A expression is associated with glioma tumorigenesis.
24398041 BMPR1a and BMPR2 are downregulated in cardiac remodeling and heart failure
24140593 BMP15 down-regulates StAR expression and decreases progesterone production in human granulosa cells, likely via ALK3-mediated SMAD1/5/8 signaling.
24008158 Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat modulates expression of BMPR-2, BMPR-1A, and BMPR-1B proteins
23969729 findings show that a reduction in the expression of BMPRIA is associated with a poorer prognosis in pancreatic cancer
23593444 BMP receptor antagonists and silencing of BMP type I receptors with siRNA induced cell death, inhibited cell growth, and caused a significant decrease in the expression of inhibitor of differentiation (Id1, Id2, and Id3) family members.
23531103 Decreased expression of BMPR1A was associated malignant gallbladder lesions.
23433720 Bone morphogenetic protein receptor type 1A missense mutations occurring in patients with juvenile polyposis affected cellular localization in an in vitro model.
23399955 Seventy-seven patients (13%) were found to have colorectal polyposis-associated mutations, including 20 in BMPR1A (3.3%)
22971142 lack of associations between LVM, values of blood pressure, and the BMP4, BMPR1A, BMPR1B, and ACVR1 genotypes
22886282 Results suggest that rs7922846 BMPR1A polymorphism may account for subtle variation in kidney size at birth, reflecting congenital nephron endowment.
22710174 analysis of promiscuity and specificity in BMP receptor activation [review]
22519633 These data support the role of BMPR-1A as an indicator ofosteoarthritis progression in human knees with circumscribed cartilage lesions.
22293501 generation of TGF-beta and BMP receptor homo- and hetero-oligomers and its roles as a mechanism capable of fast regulation of signaling by these crucial cytokines [review]
22210872 Results suggest that BMPRIA expression identifies thymic NK cell precursors and that BMP signaling is relevant for NK cell differentiation in the thymus.
21872883 Sp1 was found to be a candidate factor that likely plays a role in the transcriptional regulation of BMPR1A.
21640116 Letter: Report the phenotypic spectrum of BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.
21543859 Crystals of GDF5 and BMP receptor IA complex belonged to a monoclinic space group: either I2, with unit-cell parameters a = 63.81, b = 62.85, c = 124.99 A, beta = 95.9 degrees , or C2, with unit-cell parameters a = 132.17, b = 62.78, c = 63.53 A, beta = 112.8 degrees
21412070 Juvenile polyps with a SMAD4 germline mutation were predominantly type B, whereas type A was more common among juvenile polyps with a BMPR1A germline mutation.
21258932 Disruption of BMPR1A-mediated BMP1 signalling during the narrow window of early embryogenesis may interfere with normal VBW formation, causing omphalocele phenotype in the Cd chick model.
21152263 BMPR1A were detected in the human retina and retinoblastoma cell lines.
20927405 The crystal structure of the complex of the BMPR-IA bound to the Fab AbD1556 revealed that the contact surface of BMPR-IA overlaps extensively with the contact surface for BMP-2 interaction.
20843829 identified the promoter for BMPR1A, in which mutations may be responsible for as many as 10% of juvenile polyposis cases with unknown mutations
20734064 Observational study of gene-disease association. (HuGE Navigator)
20693682 Crystals BMP receptor type IA bound to the antibody Fab fragment belonged to the monoclinic space group P2(1), with unit-cell parameters a=89.32, b=129.25, c=100.24 A, beta=92.27 degrees
20673479 Data show that blocking both endogenous BMPR1A and BMPR1B almost offset the effect of BMP7 on the proliferation of NCI-H460 cell completely.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20587070 Low BMP2 is associated with epithelial ovarian cancer.
20346360 Observational study of gene-disease association. (HuGE Navigator)
19773747 Germline BMPR1A defect is the disease-causing mutation in 50% of the HMPS families.
19502417 genetic variation in the BMPR1A may play a role in the pathophysiology of human obesity, possibly mediated through effects on mRNA expression
19502417 Observational study of gene-disease association. (HuGE Navigator)
19463221 The prevalence of germline mutations of BMPR1A and SMAD4 are about 20% each in the patient with JPS.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19438883 we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family with hereditary mixed polyposis syndrome.
19244313 5-HT transactivates the serine kinase receptor, BMPR 1A, to activate Smads 1/5/8 via Rho and Rho kinase in in bovine and human pulmonary artery smooth muscle cells
18937504 The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding.
18823382 The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date
18823382 Observational study of gene-disease association. (HuGE Navigator)
18667463 Loss of Bmpr1a, by decreasing MMP2 and/or MMP9 activity, can account for vascular dilatation and persistence of brain microvessels, leading to the impaired organogenesis documented in the brain.
18510548 patients with 10q23 microdeletions involving the PTEN and BMPR1A genes have variable clinical phenotypes, which cannot be explained merely by the deletion sizes, and are not restricted to severe infantile juvenile polyposis
18262054 Germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer
18178612 Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS.
18160401 inactivating BMPR-IA and causing a loss of the BMP-2 tumor suppressor function in colon epithelial cells.
17873119 Observational study of gene-disease association. (HuGE Navigator)
17873119 5 nonsense, 2 frameshift, 4 missense and 2 splice site mutations were associated with juvenile polyposis syndrome. A 65-BP deletion in intron 4 included -2 of the splice acceptor side of exon 5.
17624341 Expression of BMP-4 and BMP-7 and their receptors in human ovaries from fetuses as well as adults.
17573831 Linkage analysis suggested a cryptic BMPR1A mutation or the presence of another gene in close proximity to the BMPR1A locus.
17513295 SF3b4, known to be localized in the nucleus and involved in RNA splicing, binds BMPR-IA and specifically inhibits BMP-mediated osteochondral cell differentiation
17101085 Cooperation between this gene and PTEN gene is deleted on chromoome 10 in juvenile polyposis coli.
16886151 Observational study of gene-disease association. (HuGE Navigator)
16672363 structure of the ternary complex representing the signaling competent complex of BMP-2 bound to the entire extracellular domains of both its type I receptor, BMPR-Ia, & its type II receptor, ActRII, at a resolution of 2.2 angstroms
16525031 BMPR1A mutation accounts for hereditary mixed polyposis syndrome and inactivating this gene can initiate colorectal tumourigenesis
16436638 Observational study of genotype prevalence. (HuGE Navigator)
16436528 Human granulosa-like tumor cell line KGN expressed BMP type I (BMPR1A and BMPR1B) and type II receptors (BMPR2) and the BMP signaling molecules SMADs (SMAD1 and SMAD5).
16385451 Observational study of gene-disease association. (HuGE Navigator)
16226113 BMPR1A is a promising marker for evaluating ganglion cells in the enteric nervous system.
15940369 A defect in BMPRIA internalization and increased activation of downstream signaling, suggesting that altered BMP receptor trafficking underlies ectopic bone formation in fibrodysplasia ossificans progressiva.
15351706 BMPR-IA may interact with and modulate the activity of a developmentally relevant splicing factor
15235019 Observational study of genotype prevalence. (HuGE Navigator)
12620973 BMPR1A can act as a minor susceptibility gene for PTEN mutation negative Cowden syndrome
12417513 Observational study of gene-disease association. (HuGE Navigator)
12136244 Observational study of gene-disease association. (HuGE Navigator)
11536076 Germline mutations in BMPR1A cause a subset of juvenile polyposis syndrome and Cowden syndrome cases.

AA Sequence


Text Mined References (120)

PMID Year Title
26585335 2016 Enrichment of Adipose-Derived Stromal Cells for BMPR1A Facilitates Enhanced Adipogenesis.
26383923 2015 Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.
26274893 2015 Deletion of the BMP receptor BMPR1a impairs mammary tumor formation and metastasis.
26171675 2015 Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers.
25129392 2014 Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
24966941 2014 Differential expressions of BMPR1?, ACTN4? and FABP7 in Hirschsprung disease.
24904118 2014 HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression.
24882581 2015 MicroRNA-885-3p inhibits the growth of HT-29 colon cancer cell xenografts by disrupting angiogenesis via targeting BMPR1A and blocking BMP/Smad/Id1 signaling.
24850914 2014 USP15 targets ALK3/BMPR1A for deubiquitylation to enhance bone morphogenetic protein signalling.
24480809 2014 miR-656 inhibits glioma tumorigenesis through repression of BMPR1A.
24398041 2014 Expression of bone morphogenetic protein 4 and its receptors in the remodeling heart.
24140593 2013 BMP15 suppresses progesterone production by down-regulating StAR via ALK3 in human granulosa cells.
24098149 2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
23969729 2013 Reduced expression of bone morphogenetic protein receptor IA in pancreatic cancer is associated with a poor prognosis.
23593444 2013 Bone morphogenetic protein type I receptor antagonists decrease growth and induce cell death of lung cancer cell lines.
23531103 2013 Association of BDNF and BMPR1A with clinicopathologic parameters in benign and malignant gallbladder lesions.
23433720 2013 BMPR1A mutations in juvenile polyposis affect cellular localization.
23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
22971142 2012 Common genetic variants of the BMP4, BMPR1A, BMPR1B, and ACVR1 genes, left ventricular mass, and other parameters of the heart in newborns.
22886282 2013 Association of BMPR1A polymorphism, but not BMP4, with kidney size in full-term newborns.
22799562 2012 Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.
22710174 2012 Promiscuity and specificity in BMP receptor activation.
22519633 2012 Expression of BMP-receptor type 1A correlates with progress of osteoarthritis in human knee joints with focal cartilage lesions.
22293501 2012 Oligomeric interactions of TGF-? and BMP receptors.
22210872 2012 Expression of BMPRIA on human thymic NK cell precursors: role of BMP signaling in intrathymic NK cell development.
21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
21872883 2011 SP1 regulates the transcription of BMPR1A.
21640116 2011 BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.
21543859 2011 Purification, crystallization and preliminary data analysis of the ligand-receptor complex of the growth and differentiation factor 5 variant R57A (GDF5R57A) and BMP receptor IA (BRIA).
21412070 2011 Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis.
21258932 2011 BMPR1A-mediated BMP1 signalling is disrupted in the cadmium-induced omphalocele in the chick model.
21152263 2010 Bone morphogenetic protein 4 (BMP4) signaling in retinoblastoma cells.
21054789 2010 WFIKKN1 and WFIKKN2 bind growth factors TGF?1, BMP2 and BMP4 but do not inhibit their signalling activity.
20927405 2010 A selection fit mechanism in BMP receptor IA as a possible source for BMP ligand-receptor promiscuity.
20860622 2010 DIP2 disco-interacting protein 2 homolog A (Drosophila) is a candidate receptor for follistatin-related protein/follistatin-like 1--analysis of their binding with TGF-? superfamily proteins.
20843829 2010 Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20693682 2010 Crystallization of BMP receptor type IA bound to the antibody Fab fragment AbD1556.
20673479 2010 [BMP7 signaling via BMPR1A, BMPR1B inhibits the proliferation of lung large carcinoma NCI-H460 cell].
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20587070 2010 Expression of bone morphogenetic protein-2 and its receptors in epithelial ovarian cancer and their influence on the prognosis of ovarian cancer patients.
20346360 2010 Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
19804412 2009 The pro-form of BMP-2 interferes with BMP-2 signalling by competing with BMP-2 for IA receptor binding.
19773747 2009 Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome.
19502417 2009 Adipose tissue expression and genetic variants of the bone morphogenetic protein receptor 1A gene (BMPR1A) are associated with human obesity.
19463221 2009 Pediatric juvenile polyposis syndromes: an update.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19438883 2010 Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
19244313 2009 Serotonin induces Rho/ROCK-dependent activation of Smads 1/5/8 in pulmonary artery smooth muscle cells.
19229295 2009 Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.
18937504 2008 The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding.
18823382 2009 The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
18667463 2008 SM22alpha-targeted deletion of bone morphogenetic protein receptor 1A in mice impairs cardiac and vascular development, and influences organogenesis.
18510548 2008 Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
18436533 2008 BMP-2/4 and BMP-6/7 differentially utilize cell surface receptors to induce osteoblastic differentiation of human bone marrow-derived mesenchymal stem cells.
18326817 2008 Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin.
18262054 2008 A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.
18184661 2008 Bone morphogenetic proteins signal through the transforming growth factor-beta type III receptor.
18178612 2008 Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
18160401 2008 Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome.
17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
17624341 2008 Expression of bone morphogenetic proteins 4 and 7 and their receptors IA, IB, and II in human ovaries from fetuses and adults.
17573831 2007 A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?
17513295 2007 Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation.
17356069 2007 Endofin acts as a Smad anchor for receptor activation in BMP signaling.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
17101085 2006 [Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes].
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16886151 2006 Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia.
16685657 2006 Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
16672363 2006 Structure of the ternary signaling complex of a TGF-beta superfamily member.
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.
16436638 2006 Mutation screening in juvenile polyposis syndrome.
16436528 2006 Mutual regulation of follicle-stimulating hormone signaling and bone morphogenetic protein system in human granulosa cells.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16341674 2005 Transcriptome analysis of human gastric cancer.
16226113 2005 BMPRIA is a promising marker for evaluating ganglion cells in the enteric nervous system--a pilot study.
16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
15940369 2005 Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA.
15657086 2005 Dynamics and interaction of caveolin-1 isoforms with BMP-receptors.
15621726 2004 Bone morphogenetic proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15351706 2004 Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor.
15252450 2004 Lineage-specific gene duplication and loss in human and great ape evolution.
15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
15064755 2004 Molecular recognition of BMP-2 and BMP receptor IA.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12630959 2003 Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.
12620973 2003 BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
12136244 2002 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
12135884 2002 Bone morphogenetic protein receptor type II is a receptor for growth differentiation factor-9.
12065756 2002 SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7.
11536076 2001 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
11438941 2001 Dendritic growth induced by BMP-7 requires Smad1 and proteasome activity.
11401330 2001 Effect of bone morphogenetic protein-6 on haemopoietic stem cells and cytokine production in normal human bone marrow stroma.
11381269 2001 Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.
11282024 2001 Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction.
11278302 2001 Transforming growth factor-beta receptor-associated protein 1 is a Smad4 chaperone.
11263668 2001 The crystal structure of the BMP-2:BMPR-IA complex and the generation of BMP-2 antagonists.
11241215 2000 Identification of the ligand-binding site of the BMP type IA receptor for BMP-4.
11139569 2001 Transcriptional mechanisms of bone morphogenetic protein-induced osteoprotegrin gene expression.
10881198 2000 Crystal structure of the BMP-2-BRIA ectodomain complex.
10850425 2000 Expression of bone morphogenetic protein receptors type-IA, -IB and -II correlates with tumor grade in human prostate cancer tissues.
10712517 2000 Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors.
10504300 1999 Characterization of bone morphogenetic protein-6 signaling pathways in osteoblast differentiation.
10051328 1999 Chromosomal localization of three human genes encoding bone morphogenetic protein receptors.
9950587 1999 Bone morphogenetic proteins and growth and differentiation factors in the human cornea.
9730621 1998 Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping.
9663660 1998 BRAM1, a BMP receptor-associated molecule involved in BMP signalling.
9547239 1998 Development of bone morphogenetic protein receptors in the nervous system and possible roles in regulating trkC expression.
9525338 1998 Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis.
9389648 1997 Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes.
8707881 1996 Analysis of the native murine bone morphogenetic protein serine threonine kinase type I receptor (ALK-3).
8702914 1996 Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5.
8605097 1996 Bone morphogenetic protein type IB receptor is progressively expressed in malignant glioma tumours.
8592941 1995 Enhanced expression of type I receptors for bone morphogenetic proteins during bone formation.
8397373 1993 Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
7791754 1995 Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs.