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BMP8B Gene

protein-coding   GIFtS: 57
GCID: GC01M040222

Bone Morphogenetic Protein 8b

(Previous name: bone morphogenetic protein 8 (osteogenic protein 2))
(Previous symbol: BMP8)
  See BMP8B-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 8b1 2     BMP-8B2 3
BMP81 2 3     OP22 5
Osteogenic Protein 21 2 3     DJ118J21.1 (Bone Morphogenetic Protein 8 (Osteogenic Protein 2))2
Bone Morphogenetic Protein 8 (Osteogenic Protein 2)1 2     OP-23
BMP-82 3     

External Ids:    HGNC: 10751   Entrez Gene: 6562   Ensembl: ENSG000001169857   OMIM: 6022845   UniProtKB: P348203   

Export aliases for BMP8B gene to outside databases

Previous GC identifers: GC01M039638 GC01M039639 GC01M039892 GC01M039996 GC01M038342


(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 BMP8B 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 led to
speculation of possible bone inductive activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for BMP8B Gene:
BMP8B (bone morphogenetic protein 8b) is a protein-coding gene. Diseases associated with BMP8B include blue color blindness, and color blindness. GO annotations related to this gene include growth factor activity and cytokine activity. An important paralog of this gene is GDF5.

UniProtKB/Swiss-Prot: BMP8B_HUMAN, P34820
Function: Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of
epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity)

Gene Wiki entry for BMP8B (Bone morphogenetic protein 8b) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the BMP8B gene promoter:
         AML1a   SREBP-1c   HSF1 (long)   NF-kappaB   SREBP-1b   CP2   SREBP-1a   HSF1short   NF-kappaB1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBMP8B promoter sequence
   Search Chromatin IP Primers for BMP8B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMP8B


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

Entrez Gene cytogenetic band: 1p35-p32   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p35-p32

BMP8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMP8B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M040222:  view genomic region     (about GC identifiers)

Start:
40,222,854 bp from pter      End:
40,254,533 bp from pter
Size:
31,680 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BMP8B_HUMAN, P34820 (See protein sequence)
Recommended Name: Bone morphogenetic protein 8B precursor  
Size: 402 amino acids; 44768 Da
Subunit: Homodimer; disulfide-linked (By similarity)
Secondary accessions: Q53ZM7 Q9NUF0

Explore the universe of human proteins at neXtProt for BMP8B: NX_P34820

Explore proteomics data for BMP8B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn158, Asn343
  • Modification sites at PhosphoSitePlus

  • See BMP8B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001711.2  
    ENSEMBL proteins: 
     ENSP00000361915   ENSP00000380518  

    BMP8B Human Recombinant Protein Products:

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    Novus Biologicals BMP8B Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BMP8B

     
    Search eBioscience for Proteins for BMP8B 

     
    antibodies-online proteins for BMP8B (5 products) 

     
    Search antibodies-online for peptides for BMP8B

    BMP8B Antibody Products:

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    Novus Biologicals BMP8B Antibodies
    Search for Antibodies for BMP8B at Abcam
    Cloud-Clone Corp. Antibodies for BMP8B
    ThermoFisher Antibodies for BMP8B
    antibodies-online antibodies for BMP8B (57 products) 

    BMP8B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for BMP8B
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BMP8B
    Cloud-Clone Corp. CLIAs for BMP8B
    Search eBioscience for ELISAs for BMP8B 
    antibodies-online kits for BMP8B (7 products) 


    (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

    5 InterPro protein domains:
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR002405 Inhibin_asu
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry P34820

    ProtoNet protein and cluster: P34820

    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: BMP8B_HUMAN, P34820
    Similarity: Belongs to the TGF-beta family


    Find genes that share domains with BMP8B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: BMP8B_HUMAN, P34820
    Function: Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of
    epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity)

         Summary: 

    During embryonic development, BMP8B as signaling molecule is secreted from the following cells:
                
    Trophoblast: Extraembryonic Ectoderm Cells (Extraembryonic Ectoderm)

    It affects the following cells:
    Epiblast: Intraembryonic Epiblast Cells (Epiblast)

    BMP8B as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
                
    and also in: BMP-induced cells (Mm), BMP-induced cells (Mm)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with BMP8B           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bmp8b):
     cellular  embryogenesis  endocrine/exocrine gland  growth/size/body  immune system 
     mortality/aging  reproductive system 

    Find genes that share phenotypes with BMP8B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bmp8btm1Blh for BMP8B

       genOway: Develop your customized and physiologically relevant rodent model for BMP8B

    miRNA
    Products:
        
    miRTarBase miRNAs that target BMP8B:
    hsa-mir-26b-5p (MIRT029797)

    Block miRNA regulation of human, mouse, rat BMP8B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMP8B (see all 26):
    hsa-miR-219-1-3p hsa-miR-3664-5p hsa-miR-513a-5p hsa-miR-1285 hsa-miR-449a hsa-miR-378b hsa-miR-483-3p hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidBMP8B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BMP8B
    Predesigned siRNA for gene silencing in human, mouse, rat BMP8B

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BMP8B

    Clone
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    OriGene clones in human, mouse for BMP8B (see all 6)
    OriGene ORF clones in mouse, rat for BMP8B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BMP8B (NM_001720)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMP8B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP8B

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BMP8B
    Browse ESI BIO Cell Lines and PureStem Progenitors for BMP8B 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP8B


    (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
    BMP8B_HUMAN, P34820: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--

    Find genes that share ontologies with BMP8B           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 BMP8B About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-beta signaling pathway (KEGG)
    TGF-beta signaling pathway
    2Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with BMP8B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BMP8B (see all 27)
        Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    NFAT Signaling and Lymphocyte Interactions
    JNK Pathway


    2 Kegg Pathways  (Kegg details for BMP8B):
        TGF-beta signaling pathway
    Hippo signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMP8B: 
              Neurogenesis in human mouse rat
              Growth Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BMP8B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for BMP8B (P348202, 3 ENSP000003619154) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WFIKKN1Q96NZ82, 3, ENSP000003247634MINT-8044168 I2D: score=1 STRING: ENSP00000324763
    WFIKKN2Q8TEU82, 3, ENSP000003111844MINT-8044393 I2D: score=1 STRING: ENSP00000311184
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS1460021
    GO:0001503ossification IEA--
    GO:0030154cell differentiation IEA--
    GO:0040007growth IEA--
    GO:0051216cartilage development IEA--

    Find genes that share ontologies with BMP8B           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 BMP8B

    1 HMDB Compound for BMP8B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 BMP8B gene: 
    NM_001720.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372827(uc001cdz.1) ENST00000397360(uc001cea.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BMP8B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMP8B (see all 26):
    hsa-miR-219-1-3p hsa-miR-3664-5p hsa-miR-513a-5p hsa-miR-1285 hsa-miR-449a hsa-miR-378b hsa-miR-483-3p hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidBMP8B 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BMP8B
    Predesigned siRNA for gene silencing in human, mouse, rat BMP8B
    Clone
    Products:
         
    OriGene clones in human, mouse for BMP8B (see all 6)
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    GenScript: all cDNA clones in your preferred vector: BMP8B (NM_001720)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMP8B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP8B
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BMP8B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BMP8B
      QuantiTect SYBR Green Assays in human, mouse, rat BMP8B
      QuantiFast Probe-based Assays in human, mouse, rat BMP8B

    Selected AceView cDNA sequences (see all 62):

    CB104652 BM728875 BQ883060 BI492377 NM_001720 AY303955 AW752665 BU149638 
    CB141860 BQ881528 BQ958141 AL121254 BQ877793 BM714708 BQ680708 BU739355 
    BQ888513 BC080618 BU196821 BQ678141 BV190153 CK823239 BV199142 BX104584 

    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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    BMP8B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BMP8B Expression
    About this image


    BMP8B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Epithelial Cells
             Fetal Inner Root Sheath Cells Inner Root Sheath
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Trophoblast Cells Trophoblast
     
     Hair (Integumentary System)    fully expand to see all 2 entries
             Fetal Inner Root Sheath Cells Inner Root Sheath
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    BMP8B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMP8B Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMP8B: 
              Neurogenesis in human mouse rat
              Growth Factors in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BMP8B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BMP8B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP8B

    (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 chordates.

    Orthologs for BMP8B gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmp8b5 bone morphogenetic protein 8b   --   4 (57.38 cM) 123105165 
    chicken
    (Gallus gallus)
    Aves BMP8B1 bone morphogenetic protein 8b 76.04(n)
    73.51(a)
      771058  XM_003642583.2  XP_003642631.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    61(a)
    1 → many
    GL343481.1(256810-275764)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bmp8b1 bone morphogenetic protein 8b 66.58(n)
    68.85(a)
      100494880  XM_002941651.2  XP_002941697.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmp8a1 bone morphogenetic protein 8a 63.61(n)
    61.39(a)
      561963  NM_001044971.1  NP_001038436.1 


    ENSEMBL Gene Tree for BMP8B (if available)
    TreeFam Gene Tree for BMP8B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for BMP8B gene
    GDF52  BMP52  GDF32  GDF62  BMP42  GDF72  GDF22  BMP22  
    BMP102  BMP72  GDF12  BMP8A2  BMP62  
    4 SIMAP similar genes for BMP8B using alignment to 3 protein entries:     BMP8B_HUMAN (see all proteins):
    BMP8A    BMP7    BMP5    BMP6

    Find genes that share paralogs with BMP8B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for BMP8B
    PGOHUM00000244681


    (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 BMP8B (see all 399)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469132541,2
    F--40230302(+) AAGATC/GCCTGG 2 G syn11Minor allele frequency- G:0.00NA 4450
    rs1432862251,2
    C,F--40230331(+) CAGCTC/TGTTGC 2 K E mis12Minor allele frequency- T:0.00NA EU 5837
    rs763762261,2
    C--40230336(+) CGTTGC/GTTTTC 2 T S mis10--------
    rs1998060171,2
    C--40230385(+) GGTGCG/AGATGG 2 /R /C mis11Minor allele frequency- A:0.00EU 1317
    rs1911550591,2
    C--40230527(+) GGCAGT/CGGCCC 1 -- int11Minor allele frequency- C:0.00EU 497
    rs1157054831,2
    C,F--40230531(+) GTGGCC/TCTGCA 1 -- int13Minor allele frequency- T:0.10NA EA EU 771
    rs1836594491,2
    --40230919(+) AGGACC/GCCGAG 1 -- int10--------
    rs2021386111,2
    C--40231971(+) AACAGA/TGCCAG 1 -- int10--------
    rs1475010911,2
    C--40232049(+) ACACAG/TGCATA 1 -- int10--------
    rs2012341511,2
    C--40232137(+) TCCAGC/TACACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for BMP8B (40222854 - 40254533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BMP8B:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv215n71CNV Loss21882294
    nsv871927CNV Loss21882294
    dgv15n27CNV Gain19166990
    dgv49e1CNV Complex17122850
    nsv7177OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BMP8B
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602284    OMIM disorders: --

    2 diseases for BMP8B:    
    About MalaCards
    blue color blindness    color blindness

    1 disease from the University of Copenhagen DISEASES database for BMP8B:
    Blue color blindness

    Find genes that share disorders with BMP8B           About GenesLikeMe

    Genetic Association Database (GAD): BMP8B
    Human Genome Epidemiology (HuGE) Navigator: BMP8B (3 documents)

    Export disorders for BMP8B 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 BMP8B gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with BMP8B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Osteogenic protein-2. A new member of the transforming growth factor- beta superfamily expressed early in embryogenesis. (PubMed id 1460021)1, 2, 3, 9 Oezkaynak E.... Oppermann H. (J. Biol. Chem. 1992)
    2. 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)
    3. 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)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Genetic variations in humans associated with differences in the course of hepatitis C. (PubMed id 15063762)1, 4 Saito T....Kawata S. (Biochem. Biophys. Res. Commun. 2004)
    6. The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4. (PubMed id 9070944)1, 3 DiLeone R.J....Kingsley D.M. (Genomics 1997)
    7. Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle. (PubMed id 24076131)1 Cao X.K....Chen H. (Gene 2013)
    8. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    9. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    10. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (Proteomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 656 HGNC: 1075 AceView: BMP8B Ensembl:ENSG00000116985 euGenes: HUgn656
    ECgene: BMP8B Kegg: 656 H-InvDB: BMP8B

    (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 BMP8B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BMP8B Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_8b

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BMP8B gene:
    Search GeneIP for patents involving BMP8B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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