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BMPR1B Gene

protein-coding   GIFtS: 73
GCID: GC04P095679

Bone Morphogenetic Protein Receptor, Type IB

  See BMPR1B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 c. 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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   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 Chromatin IP Primers for BMPR1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Glycosylation2 at Thr109
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BMPR1B (O00238) (see all 11)
     LITDYHE  IADLGLA  RVGTKRYM  SGSGSGLP 


    See BMPR1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    BMPR1B Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for BMPR1B
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    Novus Biologicals BMPR1B Proteins
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    Sino Biological Recombinant Protein for BMPR1B
    Sino Biological Cell Lysate for BMPR1B
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    Cloud-Clone Corp. Proteins for BMPR1B

     
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    BMPR1B Assay Products:

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    Cloud-Clone Corp. ELISAs for BMPR1B
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    Search eBioscience for ELISAs for BMPR1B 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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

    Selected 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


    Find genes that share domains with BMPR1B           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with BMPR1B           About GenesLikeMe


    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/body 
     limbs/digits/tail  mortality/aging  nervous system  pigmentation  reproductive system 
     skeleton  vision/eye 

    Find genes that share phenotypes with BMPR1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bmpr1btm1Kml for BMPR1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BMPR1B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BMPR1B

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMPR1B

    miRNA
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    miRTarBase miRNAs that target BMPR1B:
    hsa-mir-125b-5p (MIRT000346), hsa-let-7a-5p (MIRT052538)

    Block miRNA regulation of human, mouse, rat BMPR1B using miScript Target Protectors
    Selected qRT-PCR 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 plasmidBMPR1B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BMPR1B

    Gene Editing
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    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
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    Addgene plasmids for BMPR1B 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BMR1B_HUMAN, O00238: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with BMPR1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for BMPR1B About   (see all 15)  
    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
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50


    Find genes that share SuperPaths with BMPR1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    1 Reactome Pathway for BMPR1B
        Signaling by BMP


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for BMPR1B

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

    Selected Interacting proteins for BMPR1B (O002381, 2, 3 ENSP000002645684) via UniProtKB, MINT, STRING, and/or I2D (see all 240)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GDF5P430261, 2, 3, ENSP000003634894EBI-7527193,EBI-8571476 MINT-7264524 MINT-7264542 MINT-7264497 MINT-7264510 MINT-7264457 MINT-7264483 MINT-7264470 I2D: score=3 STRING: ENSP00000363489
    BMP2P126431, 2, 3, ENSP000003681044EBI-7527193,EBI-1029262 MINT-7264575 MINT-7264562 MINT-7264587 I2D: score=3 STRING: ENSP00000368104
    POMKQ9H5K33, ENSP000003312584I2D: score=5 STRING: ENSP00000331258
    SQSTM1Q135013, ENSP000003744554I2D: score=5 STRING: ENSP00000374455
    UBA52P629873, ENSP000003881074I2D: score=5 STRING: ENSP00000388107
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    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:0002062chondrocyte differentiation IEA--

    Find genes that share ontologies with BMPR1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with BMPR1B           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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 plasmidBMPR1B 3' UTR sequence
    Inhib. RNA
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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
    Addgene plasmids for BMPR1B 
    Primer
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    OriGene qPCR primer pairs and template standards for BMPR1B
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMPR1B
      QuantiTect SYBR Green Assays in human, mouse, rat BMPR1B
      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 

    Selected AceView cDNA sequences (see all 46):

    D89675 BX493471 BE219575 AA332882 AI732586 BF108430 AI984273 AA334202 
    BC047773 AI826437 AA250737 BX953864 CF454867 BI035500 BM142314 AA410943 
    AA165165 AI821897 CB048547 CA389769 AI733881 BC069803 CD250597 BX953863 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BMPR1B expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Endochondral Preosteoblasts Zeugopod 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
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Neural Tube (Nervous System)
             Prosencephalon
    BMPR1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMPR1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.598475
        Pathway & Disease-focused RT2 Profiler 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

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BMPR1B
    OriGene qSTAR qPCR primer pairs in human, mouse for BMPR1B
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for BMPR1B gene from Selected species (see all 13)    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_007560.41  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 tkv1 , 3 TGFbeta receptor signaling pathway
    protein kinase3
    thickveins1
    52(a)
    (best of 2)3
    53.99(n)1
    52.67(a)1
      337531  NM_175976.11  NP_787990.11 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-13
    sma-61
    protein kinase3
    sma-61
    37(a)
    (best of 2)3
    50.1(n)1
    41.15(a)1
      IV(132451-137621)3
    1740441  NM_062870.51  NP_495271.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BMPR1B gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  
    ACVR12  BMPR22  ACVRL12  
    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

    Find genes that share paralogs with BMPR1B           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BMPR1B (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--------
    rs289397041,2,4
    Brachydactyly A2 (BDA2)4--see VAR_0238202 mis40--------
    rs289397031,2,4
    Brachydactyly A2 (BDA2)4--see VAR_0238192 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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BMPR1B
    DNA2.0 Custom Variant and Variant Library Synthesis for BMPR1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 9 diseases for BMPR1B (see first 20):    
    About MalaCards
    chrondrodysplasia, acromesomelic, with genital anomalies    brachydactyly type c    acromesomelic dysplasia, grebe type    brachydactyly type a2
    frontonasal dysplasia 1    frontonasal dysplasia    primary pulmonary hypertension    osteochondroma
    hypertension

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

    Find genes that share disorders with BMPR1B           About GenesLikeMe

    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

    (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)
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    PubMed articles for BMPR1B gene, integrated from 10 sources (see all 154):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    2. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PubMed id 10051328)1, 2, 9 Astroem A.-K.... Stenman G. (Mamm. Genome 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. (Oncogene 1997)
    4. A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits. (PubMed id 22384028)1, 4 Guo Y....Thomas N.G. (PLoS ONE 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. (Alcohol. Clin. Exp. Res. 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. (Hum. Genet. 2010)
    7. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. (PubMed id 20732626)1, 4 Mick E....Faraone S.V. (J Am Acad Child Adolesc Psychiatry 2010)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 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. (J. Bone Miner. Res. 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. (J. Med. Genet. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=BMPR1B[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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