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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BMPR1B Gene

protein-coding   GIFtS: 73
GCID: GC04P095679

Bone Morphogenetic Protein Receptor, Type IB
  25 related diseases
at
MalaCards
 

Aliases
for BMPR1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Bone Morphogenetic Protein Receptor, Type IB1 2     CDw2932
BMPR-1B2 3     Activin Receptor-Like Kinase 62
BMP Type-1B Receptor2 3     Bone Morphogenetic Protein Receptor Type-1B2
EC 2.7.11.303 8     Serine/Threonine Receptor Kinase2
ALK62 5     CDw293 Antigen3
ALK-62     EC 2.7.118

External Ids:    HGNC: 10771   Entrez Gene: 6582   Ensembl: ENSG000001386967   OMIM: 6032485   UniProtKB: O002383   

Export aliases for BMPR1B gene to outside databases

Previous GC identifers: GC04P096144 GC04P095991 GC04P096137 GC04P096036 GC04P091416


Summaries
for BMPR1B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BMPR1B Gene:
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. Several transcript variants encoding two different isoforms have
been found for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for BMPR1B Gene: 
BMPR1B (bone morphogenetic protein receptor, type IB) is a protein-coding gene. Diseases associated with BMPR1B include chrondrodysplasia, acromesomelic, with genital anomalies, and brachydactyly type a2, and among its related super-pathways are STAT3 Pathway and BMP signalling and regulation. GO annotations related to this gene include protein serine/threonine kinase activity and receptor signaling protein serine/threonine kinase activity. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238
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. Receptor for BMP7/OP-1 and GDF5

Gene Wiki entry for BMPR1B Gene


Genomic Views
for BMPR1B gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BMPR1B gene promoter:
         Nkx3-1   AML1a   Nkx2-2   Nkx3-1 v1   C/EBPalpha   Gfi-1   AREB6   FOXC1   Cart-1   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BMPR1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMPR1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22-q24   Ensembl cytogenetic band:  4q22.3   HGNC cytogenetic band: 4q23-q24

BMPR1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMPR1B gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P095679:  view genomic region     (about GC identifiers)

Start:
 95,679,119 bp from pter      End:
 96,079,601 bp from pter
Size:
 400,483 bases      Orientation:
 plus strand

Proteins
for BMPR1B gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238 (See protein sequence)
Recommended Name: Bone morphogenetic protein receptor type-1B precursor  
Size: 502 amino acids; 56930 Da
Cofactor: Magnesium or manganese (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
1 PDB 3D structure from and Proteopedia for BMPR1B:
3MDY (3D)    
Secondary accessions: B2R953 B4DSV1 P78366
Alternative splicing: 2 isoforms:  O00238-1   O00238-2   

Explore the universe of human proteins at neXtProt for BMPR1B: NX_O00238

Explore proteomics data for BMPR1B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00238

    • 4/11 DME Specific Peptides for BMPR1B (O00238) (see all 11)
     LITDYHE  IADLGLA  RVGTKRYM  SGSGSGLP 

    BMPR1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BMPR1B Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001194.1  NP_001243721.1  NP_001243722.1  NP_001243723.1  

    ENSEMBL proteins: 
     ENSP00000426617   ENSP00000421144   ENSP00000425444   ENSP00000421671   ENSP00000424693  
     ENSP00000264568   ENSP00000378389   ENSP00000401907  
    Reactome Protein details: O00238
    Human Recombinant Protein Products for BMPR1B: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for BMPR1B (BMPR-IB/ALK-6)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for BMPR1B
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for BMPR1B
    GenScript Custom Purified and Recombinant Proteins Services for BMPR1B
    Novus Biologicals BMPR1B Proteins
    Novus Biologicals BMPR1B Lysates
    Sino Biological Recombinant Protein for BMPR1B
    Sino Biological Cell Lysate for BMPR1B 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BMPR1B 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IC14523231
    GO:0016020membrane ----
    GO:0043235receptor complex TAS14523231

    BMPR1B for ontologies           About GeneDecksing



    BMPR1B Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of BMPR1B
    R&D Systems Antibodies for BMPR1B (BMPR-IB/ALK-6)
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    Novus Biologicals BMPR1B Antibodies
    Abcam antibodies for BMPR1B
    Cloud-Clone Corp. Antibodies for BMPR1B 
    ThermoFisher Antibodies for BMPR1B
    LSBio Antibodies in human, mouse, rat for BMPR1B 

    Assay Products for BMPR1B: 
    Browse Kits and Assays available from EMD Millipore
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    R&D Systems Proteome Profiler Antibody Arrays for BMPR1B (BMPR-IB/ALK-6)
    GenScript Custom Assay Services for BMPR1B
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BMPR1B 
    Cloud-Clone Corp. CLIAs for BMPR1B

    Protein Domains /
    Families
    for BMPR1B gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 HGNC Gene Families: 
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: bone morphogenetic protein receptor, type IB 
    Type I receptor serine/threonine kinases
    Type I subfamily

    5/7 InterPro protein domains (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR003605 TGF_beta_rcpt_GS
     IPR000472 Activin_rcpt

    Graphical View of Domain Structure for InterPro Entry O00238

    ProtoNet protein and cluster: O00238

    1 Blocks protein domain: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 GS domain
    Similarity: Contains 1 protein kinase domain


    BMPR1B for domains           About GeneDecksing


    Function
    for BMPR1B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMR1B_HUMAN, O00238
    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. Receptor for BMP7/OP-1 and GDF5
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for BMPR1B:
    bone morphogenetic protein receptor,type 1B,predominantly expressed in prostate,TGFBR superfamily

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA12065756
    GO:0004675transmembrane receptor protein serine/threonine kinase activity NAS10051328
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    BMPR1B for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BMPR1B:
     Decreased substrate adherent c  Increased S DNA content  Increased cell death HMECs cel 

         12 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Bmpr1b):
     cellular  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size 
     limbs/digits/tail  mortality/aging  nervous system  pigmentation  reproductive system 
     skeleton  vision/eye 

    BMPR1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bmpr1btm1Kml for BMPR1B

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BMPR1B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BMPR1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BMPR1B 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMPR1B 

    miRNA
    Products:            		miRTarBase miRNAs that target BMPR1B:
    hsa-mir-125b (MIRT000346)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMPR1B
    8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate BMPR1B (see all 70):
    hsa-miR-579 hsa-miR-4254 hsa-miR-300 hsa-miR-218-1* hsa-miR-200a hsa-miR-29a* hsa-miR-3148 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: BMPR1B 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BMPR1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPR1B

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for BMPR1B
    Sirion Biotech Customized adenovirus for overexpression of BMPR1B

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for BMPR1B (see all 7)
    OriGene ORF clones in mouse, rat for BMPR1B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BMPR1B (NM_001203)
    Sino Biological Human cDNA Clone for BMPR1B
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMPR1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPR1B
    Sirion Biotech Customized lentivirus for stable overexpression of BMPR1B 
                         Customized lentivirus expression plasmids for stable overexpression of BMPR1B 

    Cell Line
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    Search LifeMap BioReagents cell lines for BMPR1B
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B


    Pathways & Interactions
    for BMPR1B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BMPR1B About   (see top 5)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    		STAT3 Pathway0.47
    		Cytokine-cytokine receptor interaction0.43
    2Signaling by BMP
    		Signaling by BMP0.35
    		BMP signalling and regulation0.35
    3Akt Signaling
    		Akt Signaling0.60
    		Tec Kinases Signaling0.55
    		p38 Signaling0.60
    4Apoptosis Pathway
    		Apoptosis Pathway0.45
    		Akt Pathway0.39
    		NF-kappaB Pathway0.45
    5Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency0.50
    		Factors Promoting Cardiogenesis in Vertebrates0.50
    6PAK Pathway
    		Antioxidant Action of Vitamin-C0.56
    7Signaling by GPCR
    		Signal Transduction0.55
    8Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51
    9DREAM Repression and Dynorphin Expression
    		BMP Pathway0.44
    10mTOR Pathway
    		TGF-beta Pathway0.38
    11TOB in Osteoblast Signaling
    		TOB in Osteoblast Signaling
    12TGF-beta signaling pathway
    		TGF-beta signaling pathway
    13TGF-beta Signaling Pathway
    		TGF-beta Signaling Pathway
    14Ovarian Infertility Genes
    		Ovarian Infertility Genes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMPR1B (see all 11)
        STAT3 Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling

    4 Tocris Bioscience Pathways for BMPR1B
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    2 BioSystems Pathways for BMPR1B
        BMP signalling and regulation
    Ovarian Infertility Genes

    1 Sino Biological Pathway for BMPR1B 
        TGF-beta Signaling Pathway

    2        Reactome Pathways for BMPR1B
        Signal Transduction
    Signaling by BMP


    3         Kegg Pathways  (Kegg details for BMPR1B):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway
    Hippo signaling pathway


    BMPR1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BMPR1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/179 Interacting proteins for BMPR1B (O002382, 3 ENSP000002645684) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP2P126432, 3, ENSP000003681044MINT-7264575 MINT-7264562 MINT-7264587 I2D: score=3 STRING: ENSP00000368104
    GDF5P430262, 3, ENSP000003634894MINT-7264524 MINT-7264542 MINT-7264497 MINT-7264510 MINT-7264457 MINT-7264483 MINT-7264470 I2D: score=3 STRING: ENSP00000363489
    POMKQ9H5K33, ENSP000003312584I2D: score=5 STRING: ENSP00000331258
    SQSTM1Q135013, ENSP000003744554I2D: score=5 STRING: ENSP00000374455
    UBA52P629873, ENSP000003881074I2D: score=5 STRING: ENSP00000388107
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP14523231
    GO:0001502cartilage condensation NAS14523231
    GO:0001550ovarian cumulus expansion ISS--
    GO:0001654eye development ISS--
    GO:0006468protein phosphorylation IDA12065756

    BMPR1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for BMPR1B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BMPR1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BMPR1B (BMR1B)

    4 HMDB Compounds for BMPR1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    3 Novoseek inferred chemical compound relationships for BMPR1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 51.5 1 15621726 (1)
    serine 28.9 2 15621726 (1), 14523231 (1)
    tyrosine 8.95 3 11467453 (1), 11106404 (1), 9722602 (1)

    Search CenterWatch for drugs/clinical trials and news about BMPR1B / BMR1B

    Transcripts
    for BMPR1B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BMPR1B gene (4 alternative transcripts): 
    NM_001203.2  NM_001256792.1  NM_001256793.1  NM_001256794.1  

    Unigene Cluster for BMPR1B:

    Bone morphogenetic protein receptor, type IB
    Hs.598475  [show with all ESTs]
    Unigene Representative Sequence: NM_001203
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000515059(uc003htm.4 uc010ilb.3 uc003htn.4) ENST00000506363
    ENST00000512312 ENST00000509540 ENST00000502683 ENST00000264568 ENST00000394931
    ENST00000440890
    miRNA
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    hsa-miR-579 hsa-miR-4254 hsa-miR-300 hsa-miR-218-1* hsa-miR-200a hsa-miR-29a* hsa-miR-3148 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmid: BMPR1B 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: BMPR1B (NM_001203)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMPR1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPR1B
    Sirion Biotech Customized lentivirus for stable overexpression of BMPR1B 
                         Customized lentivirus expression plasmids for stable overexpression of BMPR1B 
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BMPR1B
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BMPR1B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMPR1B

    Additional mRNA sequence: 

    AK293008.1 AK299930.1 AK313642.1 BC047773.1 BC069796.1 BC069803.1 D89675.1 U89326.1 

    6 DOTS entries:

    DT.105795  DT.100744182  DT.105783  DT.97774191  DT.121251548  DT.95286563 

    24/46 AceView cDNA sequences (see all 46):

    AI732586 BC047773 D89675 AA334202 AI984273 BX493471 BF108430 AA332882 
    BE219575 AI733881 BC069796 CD250597 AA250737 CA389769 BQ934389 R88395 
    AA165165 BI035500 BM142314 CF454867 BF434716 CB998625 AL694760 BX953863 

    GeneLoc Exon Structure


    Expression
    for BMPR1B gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BMPR1B expression in normal human tissues (normalized intensities)      BMPR1B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAGTAGTT
    BMPR1B Expression
    About this image


    BMPR1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 13 entries
             Endochondral Preosteoblasts Stylopod Perichondrium
             Zeugopod Long Bone
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Neural Tube (Nervous System)
             Prosencephalon
     
     Eye (Sensory Organs)
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer

    See BMPR1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BMPR1B

    SOURCE GeneReport for Unigene cluster: Hs.598475
        SABiosciences Expression via Pathway-Focused PCR Arrays including BMPR1B: 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Leukemia in human mouse rat
              Stem Cell Signaling in human mouse rat

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    Orthologs
    for BMPR1B gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for BMPR1B gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Bmpr1b1 , 5 bone morphogenetic protein receptor, type 1B1, 5 89.24(n)1
    98.21(a)1    		   3 (66.11 cM)5
    121671  NM_007560.31  NP_031586.11 
     1418371365 
    chicken
    (Gallus gallus)    		 Aves BMPR1B1 bone morphogenetic protein receptor, type IB 80.94(n)
    91.43(a)    		   396030  NM_205132.1  NP_990463.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BMPR1B6
    		 bone morphogenetic protein receptor, type IB
    		 88(a)
    		 1 ↔ 1
    		 5(49268786-49425973)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.130092 Transcribed sequence with strong similarity to protein more 81.05(n)    BX724261.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii AB020758.12   -- 74.36(n)   30742  AB020758.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta tkv3 TGFbeta receptor signaling pathway
    protein kinase    		 52(a)
    (best of 2)    		     --


    ENSEMBL Gene Tree for BMPR1B (if available)
    TreeFam Gene Tree for BMPR1B (if available)

    Paralogs
    for BMPR1B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BMPR1B gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  
    ACVR12  ACVRL12  BMPR22  
    10 SIMAP similar genes for BMPR1B using alignment to 3 protein entries:     BMR1B_HUMAN (see all proteins):
    BMPR1A    ACVR1B    ACVRL1    TGFBR1    ACVR1C    ACVR1
    ACVR2B    ACVR2A    BMPR2    TGFBR2

    BMPR1B for paralogs           About GeneDecksing



    Genomic Variants
    for BMPR1B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8252 SNPs in BMPR1B are shown (see all 8252)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 4 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0414044
    		A metastatic melanoma sample4--see VAR_0414042 D N mis40--------
    VAR_0414014
    		A gastric adenocarcinoma sample4--see VAR_0414012 R H mis40--------
    VAR_0238204
    		Brachydactyly A2 (BDA2)4--see VAR_0238202 R W mis40--------
    VAR_0238194
    		Brachydactyly A2 (BDA2)4--see VAR_0238192 I K mis40--------
    VAR_0379674
    		Brachydactyly A2 (BDA2)4--see VAR_0379672 R Q mis40--------
    rs3723474041,2
    		C--91421212(+) TTTTT-/TTTTTT 1 -- int10--------
    rs30672271,2
    		C--91428533(+) TCTGTT/GTTTGT 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1998925031,2
    		--91446150(+) ATCAA-/TGTGGTA 1 -- int10--------
    rs1997687321,2
    		--91447892(+) AAAAA-/ATCACTT 1 -- int10--------
    rs360916541,2
    		C,F--91447893(+) AAAAAT/-CACTT 1 -- int12Minor allele frequency- -:0.50NA CSA 4

    HapMap Linkage Disequilibrium report for BMPR1B (95679119 - 95929119 bp, first 250kb of BMPR1B)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for BMPR1B (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2517956CNV Deletion19546169
    esv2727991CNV Deletion23290073
    esv2727992CNV Deletion23290073
    esv2195551CNV Deletion18987734
    esv2294326CNV Deletion18987734
    esv2667118CNV Deletion23128226
    esv270403CNV Insertion20981092
    esv25254CNV Loss19812545
    nsv830011CNV Gain17160897
    nsv879622CNV Gain21882294


    Human Gene Mutation Database (HGMD): BMPR1B
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for BMPR1B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 603248   
    OMIM disorders: 112600  609441  
    UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238
  • Acromesomelic chondrodysplasia, with genital anomalies (AMDGA) [MIM:609441]: A form of chondrodysplasia.
    Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short
    limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with
    profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the
    second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected
    middle phalanx, the end of the second finger usually deviates radially. Note=The disease is caused by mutations
    affecting the gene represented in this entry

    • 20/25 diseases for BMPR1B (see all 25):    About MalaCards
    chrondrodysplasia, acromesomelic, with genital anomalies    brachydactyly type a2    brachydactyly type c    primary pulmonary hypertension
    brachydactyly    osteochondroma    hypertension    syndactyly
    pandas    chondrodysplasia    myelofibrosis    short stature
    malignant glioma    pancreatic cancer    infertility    pancreatitis
    ovarian cancer    asthma    prostate cancer    myeloma

    2 diseases from the University of Copenhagen DISEASES database for BMPR1B:
    Brachydactyly     Syndactyly

    BMPR1B for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for BMPR1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brachydactyly, type a2 92.5 2 16127465 (1), 19327734 (1)
    pancreatic cancer 17.7 3 10415856 (1), 10449972 (1)
    inflammation 0 1 12151307 (1)
    breast cancer 0 2 15892165 (1), 17004110 (1)
    tumors 0 1 10974075 (1)
    prostate cancer 0 1 9178898 (1)

    Genetic Association Database (GAD): BMPR1B
    Human Genome Epidemiology (HuGE) Navigator: BMPR1B (8 documents)

    Export disorders for BMPR1B gene to outside databases

    Publications
    for BMPR1B gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BMPR1B gene, integrated from 9 sources (see all 152):
    (articles sorted by number of sources associating them with BMPR1B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PubMed id 14523231)1, 2, 9 Lehmann K.... Mundlos S. (2003)
    2. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PubMed id 10051328)1, 2, 9 Astroem A.-K.... Stenman G. (1999)
    3. Cloning of human bone morphogenetic protein type IB receptor (BMPR- IB) and its expression in prostate cancer in comparison with other BMPRs. (PubMed id 9178898)1, 2, 9 Ide H.... Terada M. (1997)
    4. A genome-wide linkage and association scan reveals nov el loci for hypertension and blood pressure traits. (PubMed id 22384028)1, 4 Guo Y....Thomas N.G. (2012)
    5. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    6. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    7. Family-based genome-wide association scan of attentio n-deficit/hyperactivity disorder. (PubMed id 20732626)1, 4 Mick E....Faraone S.V. (2010)
    8. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    9. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    10. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. (PubMed id 15805157)1, 2 Demirhan O.... Lehmann K. (2005)

    External Searches for BMPR1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing BMPR1B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 658 HGNC: 1077 AceView: BMPR1B Ensembl:ENSG00000138696 euGenes: HUgn658
    ECgene: BMPR1B Kegg: 658 H-InvDB: BMPR1B

    Other Databases showing BMPR1B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BMPR1B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BMPR1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BMPR1B Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BMPR1B

    Intellectual Property
    for BMPR1B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for BMPR1B gene:
    Search GeneIP for patents involving BMPR1B

    GeneCards and IP:
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