Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BMPR1B (bone morphogenetic protein receptor type 1B)

Identity

Other namesALK-6
ALK6
AMDD
BDA1D
BDA2
CDw293
HGNC (Hugo) BMPR1B
LocusID (NCBI) 658
Atlas_Id 817
Location 4q22.3
Location_base_pair Starts at 95679128 and ends at 96079601 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALG6 (1p31.3) / BMPR1B (4q22.3)BMPR1B (4q22.3) / ALG6 (1p31.3)BMPR1B (4q22.3) / DDAH1 (1p22.3)
BMPR1B (4q22.3) / ETV1 (7p21.2)BMPR1B (4q22.3) / MCC (5q22.2)BMPR1B (4q22.3) / MRPL39 (21q21.3)
BMPR1B (4q22.3) / SCNN1A (12p13.31)NSUN4 (1p33) / BMPR1B (4q22.3)RUNX1 (21q22.12) / BMPR1B (4q22.3)
BMPR1B 4q22.3 / DDAH1 1p22.3BMPR1B 4q22.3 / ETV1 7p21.2BMPR1B 4q22.3 / MCC 5q22.2
NSUN4 1p33 / BMPR1B 4q22.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Squamous Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)BMPR1B   1077
Cards
Entrez_Gene (NCBI)BMPR1B  658  bone morphogenetic protein receptor type 1B
GeneCards (Weizmann)BMPR1B
Ensembl hg19 (Hinxton)ENSG00000138696 [Gene_View]  chr4:95679128-96079601 [Contig_View]  BMPR1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000138696 [Gene_View]  chr4:95679128-96079601 [Contig_View]  BMPR1B [Vega]
ICGC DataPortalENSG00000138696
TCGA cBioPortalBMPR1B
AceView (NCBI)BMPR1B
Genatlas (Paris)BMPR1B
WikiGenes658
SOURCE (Princeton)BMPR1B
Genomic and cartography
GoldenPath hg19 (UCSC)BMPR1B  -     chr4:95679128-96079601 +  4q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BMPR1B  -     4q22.3   [Description]    (hg38-Dec_2013)
EnsemblBMPR1B - 4q22.3 [CytoView hg19]  BMPR1B - 4q22.3 [CytoView hg38]
Mapping of homologs : NCBIBMPR1B [Mapview hg19]  BMPR1B [Mapview hg38]
OMIM112600   603248   609441   
Gene and transcription
Genbank (Entrez)AK293008 AK299930 AK313642 AW299723 BC047773
RefSeq transcript (Entrez)NM_001203 NM_001256792 NM_001256793 NM_001256794
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_009245 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)BMPR1B
Cluster EST : UnigeneHs.598475 [ NCBI ]
CGAP (NCI)Hs.598475
Alternative Splicing : Fast-db (Paris)GSHG0022742
Alternative Splicing GalleryENSG00000138696
Gene ExpressionBMPR1B [ NCBI-GEO ]   BMPR1B [ EBI - ARRAY_EXPRESS ]   BMPR1B [ SEEK ]   BMPR1B [ MEM ]
Gene Expression Viewer (FireBrowse)BMPR1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)658
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00238 (Uniprot)
NextProtO00238  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00238
Splice isoforms : SwissVarO00238 (Swissvar)
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 ]   
PhosPhoSitePlusO00238
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_recp    GS_dom    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    Ser/Thr_kinase_AS    TGFB_receptor   
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase_Tyr (PF07714)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam01064    pfam07714    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  
DMDM Disease mutations658
Blocks (Seattle)BMPR1B
PDB (SRS)3MDY   
PDB (PDBSum)3MDY   
PDB (IMB)3MDY   
PDB (RSDB)3MDY   
Structural Biology KnowledgeBase3MDY   
SCOP (Structural Classification of Proteins)3MDY   
CATH (Classification of proteins structures)3MDY   
SuperfamilyO00238
Human Protein AtlasENSG00000138696
Peptide AtlasO00238
HPRD04457
IPIIPI00939250   IPI00010862   IPI00966204   IPI00967581   
Protein Interaction databases
DIP (DOE-UCLA)O00238
IntAct (EBI)O00238
FunCoupENSG00000138696
BioGRIDBMPR1B
STRING (EMBL)BMPR1B
ZODIACBMPR1B
Ontologies - Pathways
QuickGOO00238
Ontology : AmiGOskeletal system development  cartilage condensation  ovarian cumulus expansion  eye development  glycoprotein binding  chondrocyte development  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta receptor activity, type I  protein binding  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  protein phosphorylation  inflammatory response  dorsal/ventral pattern formation  signal transduction by protein phosphorylation  proteoglycan biosynthetic process  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  retinal ganglion cell axon guidance  positive regulation of chondrocyte differentiation  limb morphogenesis  ovulation cycle  neuronal cell body  receptor complex  positive regulation of cell differentiation  positive regulation of osteoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  metal ion binding  retina development in camera-type eye  endochondral bone morphogenesis  positive regulation of cartilage development  cellular response to BMP stimulus  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of chondrocyte proliferation  HFE-transferrin receptor complex  
Ontology : EGO-EBIskeletal system development  cartilage condensation  ovarian cumulus expansion  eye development  glycoprotein binding  chondrocyte development  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta receptor activity, type I  protein binding  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  protein phosphorylation  inflammatory response  dorsal/ventral pattern formation  signal transduction by protein phosphorylation  proteoglycan biosynthetic process  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  retinal ganglion cell axon guidance  positive regulation of chondrocyte differentiation  limb morphogenesis  ovulation cycle  neuronal cell body  receptor complex  positive regulation of cell differentiation  positive regulation of osteoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  metal ion binding  retina development in camera-type eye  endochondral bone morphogenesis  positive regulation of cartilage development  cellular response to BMP stimulus  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of chondrocyte proliferation  HFE-transferrin receptor complex  
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway    Hippo signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkBMPR1B
Wikipedia pathwaysBMPR1B
Orthology - Evolution
OrthoDB658
GeneTree (enSembl)ENSG00000138696
Phylogenetic Trees/Animal Genes : TreeFamBMPR1B
Homologs : HomoloGeneBMPR1B
Homology/Alignments : Family Browser (UCSC)BMPR1B
Gene fusions - Rearrangements
Fusion: TCGABMPR1B 4q22.3 DDAH1 1p22.3 KIRC
Fusion: TCGABMPR1B 4q22.3 ETV1 7p21.2 PRAD
Fusion: TCGABMPR1B 4q22.3 MCC 5q22.2 BRCA
Fusion: TCGANSUN4 1p33 BMPR1B 4q22.3 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerBMPR1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMPR1B
dbVarBMPR1B
ClinVarBMPR1B
1000_GenomesBMPR1B 
Exome Variant ServerBMPR1B
ExAC (Exome Aggregation Consortium)BMPR1B (select the gene name)
SNP (GeneSNP Utah)BMPR1B
SNP : HGBaseBMPR1B
Genetic variants : HAPMAPBMPR1B
Genomic Variants (DGV)BMPR1B [DGVbeta]
Mutations
ICGC Data PortalBMPR1B 
TCGA Data PortalBMPR1B 
Broad Tumor PortalBMPR1B
OASIS PortalBMPR1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBMPR1B 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BMPR1B
DgiDB (Drug Gene Interaction Database)BMPR1B
DoCM (Curated mutations)BMPR1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BMPR1B (select a term)
intoGenBMPR1B
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:95679128-96079601
CONAN: Copy Number AnalysisBMPR1B 
Mutations and Diseases : HGMDBMPR1B
OMIM112600    603248    609441   
MedgenBMPR1B
Genetic Testing Registry BMPR1B
NextProtO00238 [Medical]
TSGene658
GENETestsBMPR1B
Huge Navigator BMPR1B [HugePedia]  BMPR1B [HugeCancerGEM]
snp3D : Map Gene to Disease658
BioCentury BCIQBMPR1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD658
Chemical/Pharm GKB GenePA25387
Clinical trialBMPR1B
Miscellaneous
canSAR (ICR)BMPR1B (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBMPR1B
GoPubMedBMPR1B
iHOPBMPR1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 16 17:37:40 CEST 2016

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