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BMPR2 (bone morphogenetic protein receptor type II)

Identity

Alias_namesPPH1
primary pulmonary hypertension 1
bone morphogenetic protein receptor, type II (serine/threonine kinase)
bone morphogenetic protein receptor type II
Alias_symbol (synonym)BRK-3
T-ALK
BMPR3
BMPR-II
Other aliasBMR2
POVD1
HGNC (Hugo) BMPR2
LocusID (NCBI) 659
Atlas_Id 818
Location 2q33.1  [Link to chromosome band 2q33]
Location_base_pair Starts at 203241050 and ends at 203432474 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BMPR2 (2q33.1) / AC079354.1 ()BMPR2 (2q33.1) / AP4S1 (14q12)BMPR2 (2q33.1) / ATG4B (2q37.3)
BMPR2 (2q33.1) / EPC1 (10p11.22)BMPR2 (2q33.1) / KANSL1L (2q34)BMPR2 (2q33.1) / STK10 (5q35.1)
BMPR2 (2q33.1) / TTC17 (11p12)BMPR2 (2q33.1) / WDR12 (2q33.2)BMPR2 (2q33.1) / ZNF133 (20p11.23)
CCDC60 (12q24.23) / BMPR2 (2q33.1)EPC1 (10p11.22) / BMPR2 (2q33.1)FAM117B (2q33.2) / BMPR2 (2q33.1)
PLEKHG1 (6q25.1) / BMPR2 (2q33.1)SLCO3A1 (15q26.1) / BMPR2 (2q33.1)ZNF133 (20p11.23) / BMPR2 (2q33.1)
BMPR2 2q33.1 AC079354.1BMPR2 2q33.1 / ATG4B 2q37.3BMPR2 2q33.1 C2orf67
SLCO3A1 15q26.1 / BMPR2 2q33.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BMPR2   1078
LRG (Locus Reference Genomic)LRG_712
Cards
Entrez_Gene (NCBI)BMPR2  659  bone morphogenetic protein receptor type II
AliasesBMPR-II; BMPR3; BMR2; BRK-3; 
POVD1; PPH1; T-ALK
GeneCards (Weizmann)BMPR2
Ensembl hg19 (Hinxton)ENSG00000204217 [Gene_View]  chr2:203241050-203432474 [Contig_View]  BMPR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204217 [Gene_View]  chr2:203241050-203432474 [Contig_View]  BMPR2 [Vega]
ICGC DataPortalENSG00000204217
TCGA cBioPortalBMPR2
AceView (NCBI)BMPR2
Genatlas (Paris)BMPR2
WikiGenes659
SOURCE (Princeton)BMPR2
Genetics Home Reference (NIH)BMPR2
Genomic and cartography
GoldenPath hg19 (UCSC)BMPR2  -     chr2:203241050-203432474 +  2q33.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BMPR2  -     2q33.1   [Description]    (hg38-Dec_2013)
EnsemblBMPR2 - 2q33.1 [CytoView hg19]  BMPR2 - 2q33.1 [CytoView hg38]
Mapping of homologs : NCBIBMPR2 [Mapview hg19]  BMPR2 [Mapview hg38]
OMIM178600   265450   600799   
Gene and transcription
Genbank (Entrez)AK023426 AK093832 AK123579 AK292430 AY277593
RefSeq transcript (Entrez)NM_001204 NM_033346
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_009363 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)BMPR2
Cluster EST : UnigeneHs.471119 [ NCBI ]
CGAP (NCI)Hs.471119
Alternative Splicing GalleryENSG00000204217
Gene ExpressionBMPR2 [ NCBI-GEO ]   BMPR2 [ EBI - ARRAY_EXPRESS ]   BMPR2 [ SEEK ]   BMPR2 [ MEM ]
Gene Expression Viewer (FireBrowse)BMPR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)659
GTEX Portal (Tissue expression)BMPR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13873   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13873  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13873
Splice isoforms : SwissVarQ13873
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
PhosPhoSitePlusQ13873
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)Activin_recp    BMPR2    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    TGFB_receptor   
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam01064    pfam00069   
Conserved Domain (NCBI)BMPR2
DMDM Disease mutations659
Blocks (Seattle)BMPR2
PDB (SRS)2HLQ    3G2F   
PDB (PDBSum)2HLQ    3G2F   
PDB (IMB)2HLQ    3G2F   
PDB (RSDB)2HLQ    3G2F   
Structural Biology KnowledgeBase2HLQ    3G2F   
SCOP (Structural Classification of Proteins)2HLQ    3G2F   
CATH (Classification of proteins structures)2HLQ    3G2F   
SuperfamilyQ13873
Human Protein AtlasENSG00000204217
Peptide AtlasQ13873
HPRD02880
IPIIPI00783156   IPI00793420   
Protein Interaction databases
DIP (DOE-UCLA)Q13873
IntAct (EBI)Q13873
FunCoupENSG00000204217
BioGRIDBMPR2
STRING (EMBL)BMPR2
ZODIACBMPR2
Ontologies - Pathways
QuickGOQ13873
Ontology : AmiGOmesoderm formation  maternal placenta development  endothelial cell proliferation  positive regulation of endothelial cell proliferation  lymphangiogenesis  blood vessel remodeling  chondrocyte development  negative regulation of systemic arterial blood pressure  receptor signaling protein serine/threonine kinase activity  protein binding  ATP binding  extracellular space  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  transcription from RNA polymerase II promoter  transmembrane receptor protein serine/threonine kinase signaling pathway  brain development  cellular response to starvation  basal plasma membrane  anterior/posterior pattern specification  cell surface  positive regulation of endothelial cell migration  positive regulation of epithelial cell migration  positive regulation of pathway-restricted SMAD protein phosphorylation  regulation of lung blood pressure  regulation of lung blood pressure  apical plasma membrane  activin receptor activity, type II  growth factor binding  signal transduction by protein phosphorylation  proteoglycan biosynthetic process  negative regulation of cell growth  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  positive regulation of BMP signaling pathway  activin receptor signaling pathway  BMP binding  regulation of cell proliferation  neuronal cell body  spanning component of plasma membrane  positive regulation of osteoblast differentiation  negative regulation of vasoconstriction  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  vascular endothelial growth factor receptor signaling pathway  lung alveolus development  positive regulation of axon extension involved in axon guidance  limb development  endochondral bone morphogenesis  lymphatic endothelial cell differentiation  artery development  venous blood vessel development  positive regulation of cartilage development  retina vasculature development in camera-type eye  cellular response to BMP stimulus  endothelial cell apoptotic process  neuronal postsynaptic density  BMP receptor activity  negative regulation of chondrocyte proliferation  negative regulation of DNA biosynthetic process  
Ontology : EGO-EBImesoderm formation  maternal placenta development  endothelial cell proliferation  positive regulation of endothelial cell proliferation  lymphangiogenesis  blood vessel remodeling  chondrocyte development  negative regulation of systemic arterial blood pressure  receptor signaling protein serine/threonine kinase activity  protein binding  ATP binding  extracellular space  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  transcription from RNA polymerase II promoter  transmembrane receptor protein serine/threonine kinase signaling pathway  brain development  cellular response to starvation  basal plasma membrane  anterior/posterior pattern specification  cell surface  positive regulation of endothelial cell migration  positive regulation of epithelial cell migration  positive regulation of pathway-restricted SMAD protein phosphorylation  regulation of lung blood pressure  regulation of lung blood pressure  apical plasma membrane  activin receptor activity, type II  growth factor binding  signal transduction by protein phosphorylation  proteoglycan biosynthetic process  negative regulation of cell growth  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  positive regulation of BMP signaling pathway  activin receptor signaling pathway  BMP binding  regulation of cell proliferation  neuronal cell body  spanning component of plasma membrane  positive regulation of osteoblast differentiation  negative regulation of vasoconstriction  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  vascular endothelial growth factor receptor signaling pathway  lung alveolus development  positive regulation of axon extension involved in axon guidance  limb development  endochondral bone morphogenesis  lymphatic endothelial cell differentiation  artery development  venous blood vessel development  positive regulation of cartilage development  retina vasculature development in camera-type eye  cellular response to BMP stimulus  endothelial cell apoptotic process  neuronal postsynaptic density  BMP receptor activity  negative regulation of chondrocyte proliferation  negative regulation of DNA biosynthetic process  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway    Hippo signaling pathway    MicroRNAs in cancer   
NDEx NetworkBMPR2
Atlas of Cancer Signalling NetworkBMPR2
Wikipedia pathwaysBMPR2
Orthology - Evolution
OrthoDB659
GeneTree (enSembl)ENSG00000204217
Phylogenetic Trees/Animal Genes : TreeFamBMPR2
HOVERGENQ13873
HOGENOMQ13873
Homologs : HomoloGeneBMPR2
Homology/Alignments : Family Browser (UCSC)BMPR2
Gene fusions - Rearrangements
Fusion : MitelmanBMPR2/ATG4B [2q33.1/2q37.3]  
Fusion : MitelmanBMPR2/KANSL1L [2q33.1/2q34]  [t(2;2)(q33;q34)]  
Fusion : MitelmanFAM117B/BMPR2 [2q33.2/2q33.1]  [t(2;2)(q33;q33)]  
Fusion : MitelmanSLCO3A1/BMPR2 [15q26.1/2q33.1]  [t(2;15)(q33;q26)]  
Fusion: TCGABMPR2 2q33.1 AC079354.1 LUAD
Fusion: TCGABMPR2 2q33.1 ATG4B 2q37.3 LUSC
Fusion: TCGABMPR2 2q33.1 C2orf67 LUAD
Fusion: TCGASLCO3A1 15q26.1 BMPR2 2q33.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBMPR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMPR2
dbVarBMPR2
ClinVarBMPR2
1000_GenomesBMPR2 
Exome Variant ServerBMPR2
ExAC (Exome Aggregation Consortium)BMPR2 (select the gene name)
Genetic variants : HAPMAP659
Genomic Variants (DGV)BMPR2 [DGVbeta]
DECIPHER (Syndromes)2:203241050-203432474  ENSG00000204217
CONAN: Copy Number AnalysisBMPR2 
Mutations
ICGC Data PortalBMPR2 
TCGA Data PortalBMPR2 
Broad Tumor PortalBMPR2
OASIS PortalBMPR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBMPR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBMPR2
intOGen PortalBMPR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BMPR2
DgiDB (Drug Gene Interaction Database)BMPR2
DoCM (Curated mutations)BMPR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMPR2 (select a term)
intoGenBMPR2
Cancer3DBMPR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM178600    265450    600799   
Orphanet20328    20329    9801   
MedgenBMPR2
Genetic Testing Registry BMPR2
NextProtQ13873 [Medical]
TSGene659
GENETestsBMPR2
Huge Navigator BMPR2 [HugePedia]
snp3D : Map Gene to Disease659
BioCentury BCIQBMPR2
ClinGenBMPR2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD659
Chemical/Pharm GKB GenePA25388
Clinical trialBMPR2
Miscellaneous
canSAR (ICR)BMPR2 (select the gene name)
Probes
Litterature
PubMed204 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMPR2
EVEXBMPR2
GoPubMedBMPR2
iHOPBMPR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:57:42 CET 2017

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