Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BMPR1B (bone morphogenetic protein receptor, type IB)

Identity

Other namesALK-6
ALK6
CDw293
HGNC (Hugo) BMPR1B
LocusID (NCBI) 658
Location 4q22.3
Location_base_pair Starts at 95679128 and ends at 96079601 bp from pter ( according to hg19-Feb_2009)
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)BMPR1B   1077
Cards
Entrez_Gene (NCBI)BMPR1B  658  bone morphogenetic protein receptor, type IB
GeneCards (Weizmann)BMPR1B
Ensembl (Hinxton)ENSG00000138696 [Gene_View]  chr4:95679128-96079601 [Contig_View]  BMPR1B [Vega]
ICGC DataPortalENSG00000138696
cBioPortalBMPR1B
AceView (NCBI)BMPR1B
Genatlas (Paris)BMPR1B
WikiGenes658
SOURCE (Princeton)NM_001203 NM_001256792 NM_001256793 NM_001256794
Genomic and cartography
GoldenPath (UCSC)BMPR1B  -  4q22.3   chr4:95679128-96079601 +  4q22.3   [Description]    (hg19-Feb_2009)
EnsemblBMPR1B - 4q22.3 [CytoView]
Mapping of homologs : NCBIBMPR1B [Mapview]
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)AC_000136 NC_000004 NC_018915 NG_009245 NT_016354 NW_001838915 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 [ SEEK ]   BMPR1B [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00238 (Uniprot)
NextProtO00238  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_rcpt [organisation]   Kinase-like_dom [organisation]   Prot_kinase_dom [organisation]   Protein_kinase_ATP_BS [organisation]   Ser/Thr_kinase_AS [organisation]   TGF_beta_rcpt_GS [organisation]   TGFB_receptor [organisation]  
Related proteins : CluSTrO00238
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam01064    pfam00069    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  
DMDM Disease mutations658
Blocks (Seattle)O00238
PDB (SRS)3MDY   
PDB (PDBSum)3MDY   
PDB (IMB)3MDY   
PDB (RSDB)3MDY   
Human Protein AtlasENSG00000138696 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO00238
HPRD04457
IPIIPI00939250   IPI00010862   IPI00966204   IPI00967581   
Protein Interaction databases
DIP (DOE-UCLA)O00238
IntAct (EBI)O00238
FunCoupENSG00000138696
BioGRIDBMPR1B
InParanoidO00238
Interologous Interaction database O00238
IntegromeDBBMPR1B
STRING (EMBL)BMPR1B
Ontologies - Pathways
Ontology : AmiGOskeletal system development  cartilage condensation  ovarian cumulus expansion  eye development  chondrocyte differentiation  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  integral component of plasma membrane  protein phosphorylation  inflammatory response  dorsal/ventral pattern formation  signal transduction by phosphorylation  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  retinal ganglion cell axon guidance  limb morphogenesis  ovulation cycle  receptor complex  positive regulation of cell differentiation  positive regulation of osteoblast differentiation  SMAD binding  metal ion binding  retina development in camera-type eye  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Ontology : EGO-EBIskeletal system development  cartilage condensation  ovarian cumulus expansion  eye development  chondrocyte differentiation  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  integral component of plasma membrane  protein phosphorylation  inflammatory response  dorsal/ventral pattern formation  signal transduction by phosphorylation  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  retinal ganglion cell axon guidance  limb morphogenesis  ovulation cycle  receptor complex  positive regulation of cell differentiation  positive regulation of osteoblast differentiation  SMAD binding  metal ion binding  retina development in camera-type eye  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway    Hippo signaling pathway   
Protein Interaction DatabaseBMPR1B
Wikipedia pathwaysBMPR1B
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BMPR1B
snp3D : Map Gene to Disease658
SNP (GeneSNP Utah)BMPR1B
SNP : HGBaseBMPR1B
Genetic variants : HAPMAPBMPR1B
Exome VariantBMPR1B
1000_GenomesBMPR1B 
ICGC programENSG00000138696 
Somatic Mutations in Cancer : COSMICBMPR1B 
CONAN: Copy Number AnalysisBMPR1B 
Mutations and Diseases : HGMDBMPR1B
Mutations and Diseases : intOGenBMPR1B
Genomic VariantsBMPR1B  BMPR1B [DGVbeta]
dbVarBMPR1B
ClinVarBMPR1B
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM112600    603248    609441   
MedgenBMPR1B
GENETestsBMPR1B
Disease Genetic AssociationBMPR1B
Huge Navigator BMPR1B [HugePedia]  BMPR1B [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneBMPR1B
Homology/Alignments : Family Browser (UCSC)BMPR1B
Phylogenetic Trees/Animal Genes : TreeFamBMPR1B
Chemical/Protein Interactions : CTD658
Chemical/Pharm GKB GenePA25387
Clinical trialBMPR1B
Cancer Resource (Charite)ENSG00000138696
Other databases
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
CoreMineBMPR1B
iHOPBMPR1B
OncoSearchBMPR1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:39:49 CEST 2014

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