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BMP6 Gene

protein-coding   GIFtS: 65
GCID: GC06P007672

Bone Morphogenetic Protein 6

(Previous name: vegetal related growth factor (TGFB-related))
(Previous symbol: VGR)
Microbiology & Infectious Diseases Congress
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(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 61 2     VGR-12 3
VGR1 2 3     VG-1-Related Protein2 3
Vegetal Related Growth Factor (TGFB-Related)1 2     VGR12
BMP-62 3     Vegetal-Related (TGFB Related) Cytokine2
VG-1-R2 3     Vg1-Related Sequence2

External Ids:    HGNC: 10731   Entrez Gene: 6542   Ensembl: ENSG000001531627   OMIM: 1122665   UniProtKB: P220043   

Export aliases for BMP6 gene to outside databases

Previous GC identifers: GC06P007712 GC06P007604


(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 BMP6 Gene:
The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone
growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally
identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an
extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed
role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to
speculation of possible bone inductive activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for BMP6 Gene:
BMP6 (bone morphogenetic protein 6) is a protein-coding gene. Diseases associated with BMP6 include glycogen storage disease i, and bone marrow necrosis. GO annotations related to this gene include growth factor activity and protein heterodimerization activity. An important paralog of this gene is GDF5.

UniProtKB/Swiss-Prot: BMP6_HUMAN, P22004
Function: Induces cartilage and bone formation

Gene Wiki entry for BMP6 (Bone morphogenetic protein 6) 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:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the BMP6 gene promoter:
         AP-1   p53   HTF   ATF-2   PPAR-gamma1   c-Jun   PPAR-gamma2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBMP6 promoter sequence
   Search Chromatin IP Primers for BMP6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMP6


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

Entrez Gene cytogenetic band: 6p24-p23   Ensembl cytogenetic band:  6p24.3   HGNC cytogenetic band: 6p24-p23

BMP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMP6 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P007672:  view genomic region     (about GC identifiers)

Start:
7,727,011 bp from pter      End:
7,881,961 bp from pter
Size:
154,951 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BMP6_HUMAN, P22004 (See protein sequence)
Recommended Name: Bone morphogenetic protein 6 precursor  
Size: 513 amino acids; 57226 Da
Subunit: Interacts with SOSTDC1 (By similarity)
3 PDB 3D structures from and Proteopedia for BMP6:
2QCW (3D)        2R52 (3D)        2R53 (3D)    
Secondary accessions: Q5TCP3

Explore the universe of human proteins at neXtProt for BMP6: NX_P22004

Explore proteomics data for BMP6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn241, Asn269, Asn386, Ser398, Asn404, Asn454
  • Modification sites at PhosphoSitePlus

  • See BMP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001709.1  
    ENSEMBL proteins: 
     ENSP00000283147  

    BMP6 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant BMP6 Protein
    R&D Systems Recombinant & Natural Proteins for BMP6 (BMP-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 BMP6
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BMP6
    GenScript Custom Purified and Recombinant Proteins Services for BMP6
    Novus Biologicals BMP6 Proteins
    Novus Biologicals BMP6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for BMP6
    Cloud-Clone Corp. Proteins for BMP6

    BMP6 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BMP6
    R&D Systems Antibodies for BMP6 (BMP-6)
    OriGene Antibodies for BMP6
    OriGene Custom Antibody Services for BMP6
    Novus Biologicals BMP6 Antibodies
    Abcam antibodies for BMP6
    Cloud-Clone Corp. Antibodies for BMP6
    ThermoFisher Antibodies for BMP6
    LSBio Antibodies in human, mouse, rat for BMP6

    BMP6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BMP6
    R&D Systems ELISAs for BMP6 (BMP-6)
    GenScript Custom Assay Services for BMP6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BMP6
    Cloud-Clone Corp. CLIAs for BMP6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands
    BMP: Bone morphogenetic proteins

    4 InterPro protein domains:
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry P22004

    ProtoNet protein and cluster: P22004

    3 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature


    UniProtKB/Swiss-Prot: BMP6_HUMAN, P22004
    Similarity: Belongs to the TGF-beta family


    BMP6 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMP6_HUMAN, P22004
    Function: Induces cartilage and bone formation

         Genatlas biochemistry entry for BMP6:
    bone morphogenetic protein 6 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),potential
    mediator of skeletal metastases particularly in prostate carcinoma

         Summary: 
    During embryonic development, BMP6 as signaling molecule is secreted from the following cells:
                
    Bone: Hypertrophic Chondrocytes (Vertebrae), Hypertrophic Chondrocytes (Rib)
    Heart: Semilunar Valve Cells (Semilunar Valves)

    It affects the following cells:       fully expand
    Bone: Prehypertrophic Chondrocytes (Rib), Hypertrophic Chondrocytes (Vertebrae)      fully expand to see all 4 cells

    BMP6 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
                
    Bone: Chondrocyte-like cells, Chondrocyte-like cells
    Cartilage: Chondrocyte-like cells, Chondrocyte-like cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
    GO:0046982protein heterodimerization activity IDA7811286
    GO:0070700BMP receptor binding IPI7811286
         
    BMP6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BMP6:
     Increased cell death HMECs cel 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bmp6):
     growth/size/body  reproductive system  skeleton 

    BMP6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bmp6tm1Rob for BMP6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BMP6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BMP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BMP6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMP6

    miRNA
    Products:
        
    miRTarBase miRNAs that target BMP6:
    hsa-mir-124-3p (MIRT022919)

    Block miRNA regulation of human, mouse, rat BMP6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMP6 (see all 28):
    hsa-miR-320a hsa-miR-3910 hsa-miR-520d-5p hsa-miR-218-2* hsa-miR-4263 hsa-miR-519a hsa-miR-4314 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidBMP6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BMP6
    Predesigned siRNA for gene silencing in human, mouse, rat BMP6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BMP6

    Clone
    Products:
         
    OriGene clones in human, mouse for BMP6 (see all 6)
    OriGene ORF clones in mouse, rat for BMP6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BMP6 (NM_001718)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BMP6
    Browse ESI BIO Cell Lines and PureStem Progenitors for BMP6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP6


    (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
    BMP6_HUMAN, P22004: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    mitochondrion2
    plasma membrane2
    cytoskeleton1
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--
    GO:0031988membrane-bounded vesicle IEA--

    BMP6 for ontologies           About GeneDecksing


    (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 BMP6 About   (see all 22)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2PEDF Induced Signaling
    MIF Regulation of Innate Immune Cells0.94
    NFAT Signaling and Lymphocyte Interactions0.57
    MIF Mediated Glucocorticoid Regulation0.94
    PGC1Alpha Pathway0.51
    PEDF Induced Signaling0.73
    STAT3 Pathway0.47
    all-trans-Retinoic Acid Signaling in Brain0.71
    Endothelin-1 Signaling Pathway0.46
    3GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    4TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JNK Pathway0.51
    MAPK Family Pathway0.60
    Regulation of eIF4 and p70S6K0.43
    JAK-STAT Pathway0.57
    SOCS Pathway0.40
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BMP6 (see all 69)
        Telomerase Components in Cell Signaling
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    3 BioSystems Pathways for BMP6
        Endochondral Ossification
    Id Signaling Pathway
    BMP receptor signaling


    3 Kegg Pathways  (Kegg details for BMP6):
        TGF-beta signaling pathway
    Hippo signaling pathway
    Ovarian steroidogenesis


    BMP6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMP6 (see all 7): 
              Osteogenesis in human mouse rat
              Growth Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BMP6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for BMP6 (P220043 ENSP000002831474) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRDL2Q6WN343, ENSP000002636714I2D: score=3 STRING: ENSP00000263671
    ACVR2BQ137053, ENSP000003403614I2D: score=1 STRING: ENSP00000340361
    ACVR2AP270373, ENSP000002414164I2D: score=2 STRING: ENSP00000241416
    BMPR2Q138733, ENSP000003637084I2D: score=2 STRING: ENSP00000363708
    BMPERQ8N8U93, ENSP000002971614I2D: score=1 STRING: ENSP00000297161
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS8089189
    GO:0001503ossification ----
    GO:0001649osteoblast differentiation IEA--
    GO:0001654eye development IEA--
    GO:0001822kidney development IEA--

    BMP6 for ontologies           About GeneDecksing



    (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 BMP6

    Selected Novoseek inferred chemical compound relationships for BMP6 gene (see all 133)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 83.9 27 9139748 (2), 15688013 (1), 10749622 (1), 11182753 (1) (see all 23)
    threonine 69.4 104 8389764 (2), 1333888 (1), 8415726 (1), 8713111 (1) (see all 99)
    serine 60.7 94 8389764 (2), 1333888 (1), 8713111 (1), 9023056 (1) (see all 90)
    thymidine 60.1 38 11586262 (6), 8004589 (2), 8427046 (2), 2186011 (1) (see all 28)
    vegf 59.2 144 8585929 (2), 18559616 (2), 16184456 (2), 7532545 (1) (see all 99)
    procollagen 57.3 10 18188012 (1), 8435338 (1), 17586414 (1), 12434136 (1) (see all 10)
    retinoic acid 53.5 110 12820386 (7), 8557779 (2), 2295827 (2), 7669719 (2) (see all 78)
    pge2 50.9 106 1442930 (5), 8424130 (2), 15516833 (2), 1937965 (2) (see all 65)
    ursinus 50.3 1 19897401 (1)
    sb 203580 46.5 1 18252965 (1)



    BMP6 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BMP6 gene: 
    NM_001718.4  

    Unigene Cluster for BMP6:

    Bone morphogenetic protein 6
    Hs.285671  [show with all ESTs]
    Unigene Representative Sequence: NM_001718
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000283147(uc003mxu.4)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat BMP6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMP6 (see all 28):
    hsa-miR-320a hsa-miR-3910 hsa-miR-520d-5p hsa-miR-218-2* hsa-miR-4263 hsa-miR-519a hsa-miR-4314 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidBMP6 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BMP6
    Predesigned siRNA for gene silencing in human, mouse, rat BMP6
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BMP6 (NM_001718)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP6
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BMP6
    OriGene qSTAR qPCR primer pairs in human, mouse for BMP6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMP6
      QuantiTect SYBR Green Assays in human, mouse, rat BMP6
      QuantiFast Probe-based Assays in human, mouse, rat BMP6

    Additional mRNA sequence: 

    AK300628.1 BC096084.2 BC096085.2 BC099624.1 BC099625.1 BC111763.1 BC112352.1 BC113018.1 
    BC113019.1 BC128031.1 M60315.1 

    10 DOTS entries:

    DT.91771572  DT.121351994  DT.100877441  DT.121352081  DT.100877424  DT.70101960  DT.100877421  DT.454688 
    DT.99950472  DT.100650095 

    Selected AceView cDNA sequences (see all 107):

    BF593000 BE551372 BE504255 AI923557 BF732376 BF732417 BF732719 CD674151 
    AW298764 AA836853 CA442165 AA496287 BF434345 BF516507 CD245160 BM920942 
    AW880950 AW068659 AW951999 N20199 AA700487 BE696091 BP372915 AA426586 

    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)
    About This Section

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    BMP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGGGAAG
    BMP6 Expression
    About this image


    BMP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Hypertrophic Chondrocytes Rib
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             Hypertrophic Chondrocytes Rib
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    BMP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMP6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.285671
        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMP6 (see all 7): 
              Osteogenesis in human mouse rat
              Growth Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BMP6
    OriGene qSTAR qPCR primer pairs in human, mouse for BMP6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMP6
    QuantiTect SYBR Green Assays in human, mouse, rat BMP6
    QuantiFast Probe-based Assays in human, mouse, rat BMP6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP6

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for BMP6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmp61 , 5 bone morphogenetic protein 61, 5 86.51(n)1
    89.19(a)1
      13 (18.15 cM)5
    121611  NM_007556.21  NP_031582.11 
     383457165 
    chicken
    (Gallus gallus)
    Aves BMP61 bone morphogenetic protein 6 79.8(n)
    86.11(a)
      420868  XM_418956.4  XP_418956.4 
    lizard
    (Anolis carolinensis)
    Reptilia BMP66
    bone morphogenetic protein 6
    88(a)
    1 ↔ 1
    GL343209.1(855182-879795)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bmp61 bone morphogenetic protein 6 73.4(n)
    81.03(a)
      100127176  NM_001112907.1  NP_001106378.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmp61 bone morphogenetic protein 6 67.27(n)
    68.65(a)
      503761  NM_001013339.1  NP_001013357.1 


    ENSEMBL Gene Tree for BMP6 (if available)
    TreeFam Gene Tree for BMP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BMP6 gene
    GDF52  BMP52  GDF32  BMP8B2  GDF62  BMP42  GDF72  GDF22  
    BMP22  BMP102  BMP72  GDF12  BMP8A2  
    12 SIMAP similar genes for BMP6 using alignment to 6 protein entries:     BMP6_HUMAN (see all proteins):
    BMP3    BMP5    BMP8A    BMP7    DKFZp686A06204    TGFB1
    GDF5    BMP4    BMPY    BMP2    BMP8B    TGFB3

    BMP6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BMP6
    PGOHUM00000246447


    (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 BMP6 (see all 3374)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362004
    A colorectal cancer sample4--see VAR_0362002 A D mis40--------
    VAR_0362014
    A colorectal cancer sample4--see VAR_0362012 P L mis40--------
    rs358269151,2
    C--7610246(+) TTTTT-/TAAGAC 1 -- int10--------
    rs681101631,2
    C--7693226(+) AAACA-/GAACATA 1 -- int11Minor allele frequency- GA:0.00NA 2
    rs1483159951,2
    --7725015(+) ATCAGA/GTATTT 1 -- us2k10--------
    rs776359461,2
    C,F--7725128(+) ACCCAT/CGAGAA 1 -- us2k13Minor allele frequency- C:0.10CSA WA 121
    rs1414256021,2
    C--7725261(+) GACCAC/TTTGGA 1 -- us2k10--------
    rs69377631,2
    C,F--7725394(+) TCGGGC/TGGGGT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1809399661,2
    --7725425(+) CCTCAC/TTGGCA 1 -- us2k10--------
    rs69366381,2
    C,F--7725457(+) ATCTTG/ATCTAA 1 -- us2k11Minor allele frequency- A:0.04WA 118

    HapMap Linkage Disequilibrium report for BMP6 (7727011 - 7881961 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BMP6 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678437CNV Deletion23128226
    esv2731543CNV Deletion23290073
    esv2656550CNV Deletion23128226
    esv2731542CNV Deletion23290073
    esv2658602CNV Deletion23128226
    esv2731544CNV Deletion23290073
    nsv462625CNV Loss19166990
    nsv525566CNV Loss19592680
    nsv830582CNV Loss17160897
    nsv526828CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BMP6
    DNA2.0 Custom Variant and Variant Library Synthesis for BMP6

    (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.)
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    OMIM gene information: 112266    OMIM disorders: --

    Selected diseases for BMP6 (see all 261):    
    About MalaCards
    glycogen storage disease i    bone marrow necrosis    cellular leiomyoma    mycobacterium avium complex disease
    congenital hepatic fibrosis    diffuse scleroderma    intestinal neoplasm    rasmussen encephalitis
    congenital anomalies of kidney and urinary tract    telangiectasis    breast cyst    hypertrophic scars
    iga glomerulonephritis    pneumoconiosis    myelofibrosis    juvenile nasopharyngeal angiofibroma
    marfan syndrome    bronchiolitis obliterans    hereditary hemorrhagic telangiectasia    pancreas adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for BMP6:
    Hemochromatosis

    BMP6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for BMP6 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 78 805 1442930 (4), 9369823 (4), 1937392 (4), 1458474 (3) (see all 99)
    tumors 74.9 1040 1442930 (4), 9369823 (4), 10582704 (4), 1937392 (4) (see all 99)
    renal fibrosis 72.1 17 10515378 (1), 11287759 (1), 15090860 (1), 15906952 (1) (see all 16)
    glomerulosclerosis 66.7 24 9072884 (1), 10405207 (1), 18039119 (1), 7922170 (1) (see all 23)
    sclerosis systemic 65.5 41 11918720 (2), 15577613 (2), 10817561 (2), 15133694 (2) (see all 30)
    pulmonary fibrosis 63 24 12816730 (2), 11259398 (1), 18583319 (1), 9820652 (1) (see all 22)
    diabetic nephropathies 62.2 46 12453917 (2), 11706299 (2), 10585634 (1), 11576897 (1) (see all 44)
    inflammation 61.7 102 16799084 (2), 1569205 (1), 10469047 (1), 11966931 (1) (see all 97)
    telangiectasia hereditary hemorrhagic 61.4 12 12667943 (2), 16121312 (1), 12393874 (1), 20042709 (1) (see all 11)
    skin fibrosis 59.3 2 15026552 (1), 10400038 (1)

    Genetic Association Database (GAD): BMP6
    Human Genome Epidemiology (HuGE) Navigator: BMP6 (12 documents)

    Export disorders for BMP6 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 BMP6 gene, integrated from 10 sources (see all 3444):
    (articles sorted by number of sources associating them with BMP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. (PubMed id 1427904)1, 3, 9 Hahn G.V....Kaplan F.S. (Genomics 1992)
    2. Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. (PubMed id 18187665)1, 4, 9 Ashley-Koch A.E....Telen M.J. (Blood 2008)
    3. BMP-3 and BMP-6 structures illuminate the nature of binding specificity with receptors. (PubMed id 17924656)1, 2, 9 Allendorph G.P....Choe S. (Biochemistry 2007)
    4. Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone. (PubMed id 2263636)1, 2, 9 Celeste A.J.... Wozney J.M. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    5. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (PubMed id 22419666)1, 4 Shi M....Beaty T.H. (Am. J. Med. Genet. A 2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
    8. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    9. 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)
    10. 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)

    (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: 654 HGNC: 1073 AceView: BMP6 Ensembl:ENSG00000153162 euGenes: HUgn654
    ECgene: BMP6 Kegg: 654 H-InvDB: BMP6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for BMP6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BMP6 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BMP6 gene:
    Search GeneIP for patents involving BMP6

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



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