DAVID: Database for Annotation, Visualization, and Integrated Discovery (Laboratory of Immunopathogenesis and Bioinformatics (LIB); National Institute of Allergies and Infectious Diseases (NIAID); Science Applications International Corporation (SAIC)

DAVID Gene Report

Gene Report

Right-click and select 'Save Target As' to download results

2874556	bone morphogenetic protein receptor, type ii (serine/threonine kinase)	Related Genes	Homo sapiens
REFSEQ_MRNA	NM_001204,
UNIGENE	Hs.471119,
OMIM_DISEASE	Pulmonary hypertension, familial primary, Pulmonary hypertension, primary, fenfluramine-associated, Pulmonary venoocclusive disease,
SP_COMMENT	catalytic activity:ATP + [receptor-protein] = ADP + [receptor-protein] phosphate., cofactor:Magnesium or manganese., disease:Defects in BMPR2 are a cause of pulmonary venoocclusive disease (PVOD) [MIM:265450]. PVOD is a rare form of pulmonary hypertension in which the vascular changes originate in the small pulmonary veins and venules. The pathogenesis is unknown and any link with PPH1 has been speculative. The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH1., disease:Defects in BMPR2 are the cause of primary pulmonary hypertension (PPH1) [MIM:178600]. PPH1 is a rare autosomal dominant disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs., function:On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs., similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily., similarity:Contains 1 protein kinase domain., subcellular location:Membrane; Single-pass type I membrane protein., tissue specificity:Highly expressed in heart and liver.,
UNIREF100_ID	UniRef100_Q13161, UniRef100_Q13873, UniRef100_Q53SA5,
UNIPROT_ID	BMPR2_HUMAN, Q13161_HUMAN, Q4ZG08_HUMAN, Q53SA5_HUMAN, Q585T8_HUMAN,
GENERIF_SUMMARY	signals induced by binding of BMP-2 to preformed receptor complexes activate the Smad pathway, whereas BMP-2-induced recruitment of receptors activates a different, Smad-independent pathway, Bone morphogenetic protein receptor type II is a receptor for growth differentiation factor-9, BMPRII has a role in signal transduction and its mutation can lead to primary pulmonary hopertension, bone morphogenetic protein receptor 2 mutations that appear to be rare in the general population but may combine with exposure to fenfluramine derivatives to greatly increase the risk of developing severe pulmonary arterial hypertension, Overexpression of a dominant negative type II bone morphogenetic protein receptor inhibits the growth of human breast cancer cells., Decreased expression of bone morphogenetic protein (BMP) receptor type II correlates with insensitivity to BMP-6 in human renal cell carcinoma cells, Loss of BMPRII signaling in mouse smooth muscle (due to dominant negative human transgene)is sufficient to produce the pulmonary hypertensive phenotype., Mutations of BMPR2 underlie many cases of familial primary pulmonary hypertension., results indicate that a substantial portion of Japanese primary pulmonary hypertension patients carry BMPR2 mutations with considerable heterogeneity, Pulmonary hypertension in children may have a different genetic background than in adults and we postulate a recessive mode of inheritance in a proportion of infantile cases., Loss of BMP-RII function may result in increased tumorigenicity in human prostate cancer cells., Human bladder TCC tissues have a frequent loss of BMP-RII expression and that overexpression of BMP-RII leads to restoration of BMP signaling and decreased tumor growth in the human bladder TCC cell line TSU-Pr1., Mutations may promote expansion of fibroblasts resistant to antiproliferative, prodifferentiation effects of bone morphogenetic proteins. Possible mechanism for vascular obliteration in familial pulmonary hypertension., frequency of BMPR2 mutations in a different population of patients with sporadic idiopathic pulmonary arterial hypertension, 2 novel mutations were found in BMPR2 from 18 patients developing PAH before 6 years of age, including one partial gene deletion and one nonsense mutation., Somatic loss of wild-type BMPR2 alleles is unlikely to play a significant role in the pathogenesis of familial pulmonary arterial hypertension., BMPR2 gene rearrangements is associated with primary pulmonary hypertension, BMPR2 mutations have a role in short lifetime expectancy in primary pulmonary hypertension, c-Src tyrosine kinase was identified as a binding partner of the BMPR-II C-terminus., Bone morphogenetic protein-2 is the predominant family member expressed in NSCLC and is overexpressed in the majority of human lung carcinomas independent of cell type., Our data suggest that the complex formation between c-kit and BMPR-II leads to phosphorylation of BMPR-II at Ser757, which modulates BMPR-II-dependent signaling, Bone morphogenetic protein regulaates K(V) channel expression and that loss of this signaling pathway in pulmonary artery through a mutation in BMPR2., The correlation of the SERT promoter polymorphism with age at diagnosis in FPAH suggests a possible relationship between the SERT and BMPR2., TGF-beta type II receptor BMPR2 is mutated in pulmonary arterial hypertension, BMPR2 gene rearrangements have a role in mutations in familial and idiopathic pulmonary arterial hypertension, 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)., Finally, two inhibitors of cyclin-dependent kinase 9 (a dominant negative CDK9 and flavopiridol) repressed activity from the MR and BMPR2 promoters, Patients with familial or idiopathic PAH and nonsynonymous BMPR2 variations are unlikely to demonstrate vasoreactivity, Novel signaling network relevant to pulmonary artery hypertension underscored by BMPR2 mutations., Characterization of this enzyme expressed in E coli cells., Atrial septal defect Eisenmenger syndrome may occur without BMPR2 mutation., HGF up-regulates the expression of the bone morphogenetic protein receptors, BMPR-IB and BMPR-II, in prostate cancer cells, This protein, in transgenic rats, provide a rationale for the development of gene therapy aimed at improving BMPR2 signaling., Germline mutations in the gene coding for the bone morphogenetic protein receptor II (BMPR2) are present in more than 70% of FPAH and up to 26% of idiopathic, apparently sporadic cases (IPAH)., BMP pathway regulates IL-6 in pulmonary tissues and conversely that IL-6 regulates the BMP pathway, negligible change in the emission maximum was observed when bis-ANS binds ecBMPR-II. FRET revealed close proximity between tryptophan residue & bis-ANS binding site., RGMa facilitates the use of ActRIIA by endogenous BMP2 and BMP4 ligands that otherwise prefer signaling via BMPRII and that increased utilization of ActRIIA leads to generation of an enhanced BMP signal, primary pulmonary arterial smooth muscle cells demonstrated colocalization of BMPRII and RACK1 in vivo. RACK1-BMPRII interaction was reduced when kinase domain mutations occurring in patients with PAH were introduced to BMPRII, Trb3 is a critical component of a novel mechanism for regulation of the bone morphogenetic protein pathway by BMPRII., These results demonstrate that the 5'-untranslated region of BMPR2 is considerably longer than previously thought; we identified a double-substitution mutation,
ENTREZ_GENE_ID	659,
EC_NUMBER	2.7.1.37, 2.7.11.1, 2.7.11.30,
CYTOBAND	2q33-q34,
PIR_SUMMARY	On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs.,
PIR_NREF_ID	NF00100412, NF00115938, NF00132066, NF02397885, NF02397920, NF03290645,
CHROMOSOME	2,
GENPEPT_ACCESSION	AAA86519, AAC50105, AAH52985, AAQ18032, AAX76517, AAX88941, AAY24146, BAA09094, BAF85119, CAA88759, EAW70309, EAW70310, Genomic_DNA, mRNA,
ENTREZ_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.,
GENE_SYMBOL	BMPR2,
REFSEQ_PROTEIN	NP_001195,
GENE_NAME	BMP type II receptor, BMPR-II, Bone morphogenetic protein receptor type II, Bone morphogenetic protein receptor type-2 precursor, Bone morphogenetic protein receptor type-2 precursor (EC 2.7.11.30) (Bone morphogenetic protein receptor type II) (BMP type II receptor) (BMPR-II), Bone morphogenetic protein receptor, type II (Serine/threonine kinase), isoform CRA_a, Bone morphogenic protein type II receptor, Bone morphogenic protein type II receptor (Bone morphogenetic protein receptor, type II (Serine/threonine kinase), isoform CRA_a), Putative uncharacterized protein BMPR2, Putative uncharacterized protein BMPR2 (Fragment), bone morphogenetic protein receptor, type II (serine/threonine kinase),

Please cite the web site or Genome Biology 2003; 4(5):P3 within any publication that makes use of any methods inspired by DAVID.


Term of Service \| Contact Us \| Site Map