Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

BMPR1B Gene

protein-coding   GIFtS: 71
GCID: GC04P095679

bone morphogenetic protein receptor, type IB
 Explore 28 diseases affiliated with
BMPR1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BMPR1B    

Aliases
for BMPR1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Bone Morphogenetic Protein Receptor, Type IB1 2     ALK-62
ALK61 2 5     Activin Receptor-Like Kinase 62
CDw2931 2     Bone Morphogenetic Protein Receptor Type-1B2
BMPR-1B2 3     Serine/Threonine Receptor Kinase2
BMP Type-1B Receptor2 3     CDw293 Antigen3
EC 2.7.11.303 8     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:
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)

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


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    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: BMPR1B
    OriGene Custom Protein Services for BMPR1B 
    GenScript Custom Purified and Recombinant Proteins Services for BMPR1B
    Novus Biologicals BMPR1B Proteins
    Novus Biologicals BMPR1B Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BMPR1B

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IC14523231
    GO:0016020membrane ----
    GO:0030425dendrite ----
    GO:0043025neuronal cell body ----


    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)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for BMPR1B 
    GenScript Custom Superior Antibodies Services for BMPR1B
    Novus Biologicals BMPR1B Antibodies
    Search for Antibodies for BMPR1B at Abcam  
    Uscn Antibodies for BMPR1B
    ThermoFisher Antibodies for BMPR1B

    Assay Products for BMPR1B: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems Multiplex/Array Assay Kits & Reagents for BMPR1B (BMPR-IB/ALK-6)
    GenScript Custom Assay Services for BMPR1B
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for BMPR1B

    Protein Domains /
    Families
    for BMPR1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BMPR1B for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: 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


    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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

    OriGene 3'-UTR Clone: BMPR1B
    Browse MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMPR1B (see all 7)
    OriGene shRNA RFP: BMPR1B
    OriGene siRNA: BMPR1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPR1B

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for BMPR1B

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BMPR1B (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for BMPR1B
    Search LifeMap BioReagents cell lines for BMPR1B

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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:0005024transforming growth factor beta-activated receptor activity ----
    GO:0005025transforming growth factor beta receptor activity, type I IEA--


    BMPR1B for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Bmpr1btm1Kml for BMPR1B
         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


    Pathways & Interactions
    for BMPR1B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptosis Pathway
    		Apoptosis Pathway1.00
    		Akt Pathway0.39
    		NF-kappaB Pathway0.45
    2Akt Signaling
    		Akt Signaling1.00
    		Tec Kinases Signaling0.55
    		p38 Signaling0.60
    3Signaling by BMP
    		Signaling by BMP1.00
    		BMP signalling and regulation0.35
    4Human Embryonic Stem Cell Pluripotency
    		Human Embryonic Stem Cell Pluripotency1.00
    		Factors Promoting Cardiogenesis in Vertebrates0.50
    5PEDF Induced Signaling
    		STAT3 Pathway0.47
    		Cytokine-cytokine receptor interaction0.26

    Pathway sources
    See GeneCards unified pathways
    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

    2        Reactome Pathways for BMPR1B
        Signal Transduction
    Signaling by BMP


    2         Kegg Pathways  (Kegg details for BMPR1B):
        Cytokine-cytokine receptor interaction
    TGF-beta 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)

    5/178 Interacting proteins for BMPR1B (O002382, 3 ENSP000002645684) via UniProtKB, MINT, STRING, and/or I2D (see all 178)
    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
    SGK196Q9H5K33, ENSP000003312584I2D: score=5 STRING: ENSP00000331258
    SQSTM1Q135013, ENSP000003744554I2D: score=5 STRING: ENSP00000374455
    UBA52P629873, ENSP000003881074I2D: score=5 STRING: ENSP00000388107
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    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, 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

    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 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 235 Homo sapiens; Mar 10 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,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: BMPR1B
    Browse OriGene MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMPR1B (see all 7)
    OriGene shRNA RFP: BMPR1B
    OriGene siRNA: BMPR1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPR1B
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BMPR1B (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMPR1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPR1B 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BMPR1B
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    BX493471 BC047773 AA332882 BF108430 AA334202 AI732586 BE219575 D89675 
    AI984273 CF454867 BI035500 BC069803 BX953863 BM981392 BF434716 AL694760 
    CA389769 CD250597 CB998625 AA250737 AA410943 BC069796 R88395 BX953864 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCAGTAGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BMPR1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod PerichondriumEndochondral PreosteoblastsBone
    BoneCervical VertebraeEndochondral PreosteoblastsBone
    BoneLumbar VertebraeEndochondral PreosteoblastsBone
    BoneSacral VertebraeEndochondral PreosteoblastsBone
    BoneStylopod PerichondriumEndochondral PreosteoblastsBone
    BoneThoracic RibEndochondral PreosteoblastsBone
    BoneThoracic VertebraeEndochondral PreosteoblastsBone
    BoneZeugopod PerichondriumEndochondral PreosteoblastsBone
    BrainChoroid PlexusChoroid Plexus Progenitor CellsChoroid Plexus
    EyeNeuroblastic LayerEarly Retinal Progenitor CellsRetina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BMPR1B
    Browse OriGene validated miRNA SYBR primer pairs
    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
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B

    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 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 84(a)
    		 1 ↔ 1
    		 5(49388767-49421203)
    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)    		     --
    worm
    (Caenorhabditis elegans)    		 Secernentea daf-13 protein kinase 37(a)
    (best of 2)    		   IV(132451-137621)   --


    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
    TGFBR22  ACVR1C2  AMHR22  ACVR2A2  ACVR2B2  ACVR1B2  TGFBR12  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

    BMPR1B for paralogs           About GeneDecksing



    Genomic Variants
    for BMPR1B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for BMPR1B
         2 CNVs: 98802 68770
         2 Indels: 46724 46723
    Human Gene Mutation Database (HGMD): BMPR1B
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BMPR1B
    DNA2.0 Custom Variant and Variant Library Synthesis for BMPR1B

    Disorders / Diseases
    for BMPR1B gene

    (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.)
    About This Section
    BMPR1B for disorders           About GeneDecksing

    OMIM gene information: 603248   
    OMIM disorders: 112600  609441  
    UniProtKB/Swiss-Prot: BMR1B_HUMAN, O00238
  • Defects in BMPR1B are the cause of acromesomelic chondrodysplasia with genital anomalies (AMDGA) [MIM:609441].
    • 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)
  • Defects in BMPR1B are a cause of brachydactyly type A2 (BDA2) [MIM:112600]. Brachydactylies (BDs) are a group
    • of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges
    and/or the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including
    three subgroups (A1 to A3) that usually manifest as autosomal dominant traits. BDA2 was described first in a large
    Norwegian kindred. BDA2 is caused by mutations in BMPR1B gene and studies demonstrate that these mutations function as
    dominant negatives in vitro and in vivo

    20/28 diseases for BMPR1B (see all 28):    About MalaCards
    chrondrodysplasia, acromesomelic, with genital anomalies    primary pulmonary hypertension    pulmonary hypertension    brachydactyly type a2
    parietal foramina    hypertension    brachydactyly    brachydactyly type c
    short stature    osteochondroma    epithelial ovarian cancer    malignant glioma
    chondrodysplasia    myelofibrosis    pandas    ovarian cancer
    pancreatic cancer    prostate cancer    breast cancer    polyposis

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

    6 Novoseek 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 149):
    (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 homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. (PubMed id 15805157)1, 2 Demirhan O.... Lehmann K. (2005)
    5. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PubMed id 15235019)1, 4 Howe J.R....Lynch H.T. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping. (PubMed id 9730621)1, 3 Ide H....Terada M. (1998)
    8. Characterization of type I receptors for transforming growth factor-beta and activin. (PubMed id 8140412)1, 3 ten Dijke P....Heldin C.H. (1994)
    9. Characterization of the bone morphogenetic protein (BMP) system in human pulmonary arterial smooth muscle cells isolated from a sporadic case of primary pulmonary hypertension: roles of BMP type IB receptor (activin receptor-like kinase-6) in the mitotic action. (PubMed id 15192043)1, 9 Takeda M....Makino H. (2004)
    10. Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases. (PubMed id 11279102)1, 9 Parks W.T.... Lechleider R.J. (2001)

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



    Products
    for BMPR1B gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Small Molecules at EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of BMPR1B
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for BMPR1B (BMPR-IB/ALK-6)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents for BMPR1B (BMPR-IB/ALK-6)  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins for BMPR1B (BMPR-IB/ALK-6)  
     Browse OriGene Antibodies   OriGene shRNA RFP for BMPR1B  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BMPR1B   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BMPR1B  
     OriGene Protein Over-expression Lysate for BMPR1B   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for BMPR1B   OriGene 3'-UTR Clone for BMPR1B  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BMPR1B   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BMPR1B  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BMPR1B   OriGene Custom Protein Services for BMPR1B  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BMPR1B
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BMPR1B
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMPR1B
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BMPR1B
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMPR1B
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BMPR1B
     GenScript Custom Purified and Recombinant Proteins Services for BMPR1B GenScript cDNA clones with any tag delivered in your preferred vector for BMPR1B
     GenScript Custom Assay Services for BMPR1B GenScript Custom Superior Antibodies Services for BMPR1B
     GenScript Custom overexpressing Cell Line Services for BMPR1B CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in BMPR1B promoter
     Search Chromatin IP Primers for BMPR1B
     RT2 qPCR Primer Assay in human, mouse, rat BMPR1B
     GNC Network for BMPR1B
     SABiosciences PCR Arrays including human, mouse, rat BMPR1B
     Search Tocris compounds for BMPR1B
     Browse Sino Biological Proteins and Antibodies
     cDNA Clones for BMPR1B
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     BMPR1B antibodies
     BMPR1B proteins
     BMPR1B lysates
     Search for Antibodies for BMPR1B at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for BMPR1B
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     BMPR1B Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for BMPR1B
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR1B
     SwitchGear 3'UTR luciferase reporter plasmids for BMPR1B
     Browse SwitchGear Promoter luciferase reporter plasmids for BMPR1B
     ThermoFisher Antibodies for BMPR1B
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMPR1B
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      BMPR1B gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4