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BGLAP Gene

protein-coding   GIFtS: 58
GCID: GC01P156211

Bone Gamma-Carboxyglutamate (Gla) Protein

  See BGLAP-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 Gamma-Carboxyglutamate (Gla) Protein1 2     BGP2 3
osteocalcin1 2     OC2
Bone Gla Protein2 3     OCN2
Gamma-Carboxyglutamic Acid-Containing Protein2 3     Bone Gamma-Carboxyglutamate (Gla) Protein (Osteocalcin)2

External Ids:    HGNC: 10431   Entrez Gene: 6322   Ensembl: ENSG000002422527   OMIM: 1122605   UniProtKB: P028183   

Export aliases for BGLAP gene to outside databases

Previous GC identifers: GC01P154052 GC01P151948 GC01P152961 GC01P153399 GC01P152995 GC01P153026 GC01P154449 GC01P154478 GC01P127573


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BGLAP Gene:
BGLAP (bone gamma-carboxyglutamate (gla) protein) is a protein-coding gene. Diseases associated with BGLAP include nontoxic goiter, and osteofibrous dysplasia. GO annotations related to this gene include hydroxyapatite binding and calcium ion binding.

UniProtKB/Swiss-Prot: OSTCN_HUMAN, P02818
Function: Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium

Gene Wiki entry for BGLAP (Osteocalcin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the BGLAP gene promoter:
         C/EBPbeta   p53   AP-1   ATF-2   YY1   PPAR-gamma1   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBGLAP promoter sequence
   Search Chromatin IP Primers for BGLAP

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


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

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P156211:  view genomic region     (about GC identifiers)

Start:
156,211,753 bp from pter      End:
156,213,123 bp from pter
Size:
1,371 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OSTCN_HUMAN, P02818 (See protein sequence)
Recommended Name: Osteocalcin precursor  
Size: 100 amino acids; 10963 Da
Secondary accessions: Q5TCK6

Explore the universe of human proteins at neXtProt for BGLAP: NX_P02818

Explore proteomics data for BGLAP at MOPED

Post-translational modifications: 

  • Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for
    the binding of calcium1
  • Modification sites at neXtProt

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

    REFSEQ proteins: NP_954642.1  
    ENSEMBL proteins: 
     ENSP00000357255  

    BGLAP Human Recombinant Protein Products:

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    Novus Biologicals BGLAP Proteins
    Novus Biologicals BGLAP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for BGLAP 

    BGLAP Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BGLAP
    R&D Systems Antibodies for BGLAP (Osteocalcin)
    OriGene Antibodies for BGLAP
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    Novus Biologicals BGLAP Antibodies
    Abcam antibodies for BGLAP
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    ThermoFisher Antibodies for BGLAP
    LSBio Antibodies in human, mouse, rat for BGLAP

    BGLAP Assay Products:

    EMD Millipore Kits and Assays for the Analysis of BGLAP
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    R&D Systems ELISAs for BGLAP (Osteocalcin)
    GenScript Custom Assay Services for BGLAP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    eBioscience ELISAs for BGLAP:  
                        Human Osteocalcin Instant ELISA 128 tests


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002384 Osteocalcin/MGP
     IPR000294 GLA_domain

    Graphical View of Domain Structure for InterPro Entry P02818

    ProtoNet protein and cluster: P02818

    2 Blocks protein domains:
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB002384 Bone matrix GLA domain signature


    UniProtKB/Swiss-Prot: OSTCN_HUMAN, P02818
    Similarity: Belongs to the osteocalcin/matrix Gla protein family
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain


    Find genes that share domains with BGLAP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OSTCN_HUMAN, P02818
    Function: Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium

         Genatlas biochemistry entry for BGLAP:
    bone gamma-carboxyglutamate protein (osteocalcin),tissue-specific,with a Hind III polymorphism putatively
    influencing bone density and osteoblast growth,regulated by AP1 related protein and CBFA1 transcription factor

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS10486212
    GO:0005509calcium ion binding IEA--
    GO:0008147structural constituent of bone NAS12467198
    GO:0046848hydroxyapatite binding NAS10486212
         
    Find genes that share ontologies with BGLAP           About GenesLikeMe


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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target BGLAP:
    hsa-mir-146a-5p (MIRT021227), hsa-mir-26b-5p (MIRT028806), hsa-mir-135b-5p (MIRT003596), hsa-let-7b-5p (MIRT032219), hsa-mir-192-5p (MIRT026111)

    Block miRNA regulation of human, mouse, rat BGLAP using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate BGLAP:
    hsa-miR-877* hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmidBGLAP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BGLAP
    Predesigned siRNA for gene silencing in human, mouse, rat BGLAP

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

    Clone
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    OriGene clones in human, mouse for BGLAP (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BGLAP (NM_199173)
    Sino Biological Human cDNA Clone for BGLAP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BGLAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BGLAP

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for BGLAP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BGLAP


    (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
    OSTCN_HUMAN, P02818: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    endoplasmic reticulum2
    golgi apparatus2
    nucleus2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS11856645
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    Find genes that share ontologies with BGLAP           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 BGLAP About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    4PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    Warfarin Pathway, Pharmacodynamics0.31
    5Validated transcriptional targets of AP1 family members Fra1 and Fra2
    Validated transcriptional targets of AP1 family members Fra1 and Fra2

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for BGLAP
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Transcription Role of VDR in regulation of genes involved in osteoporosis

    Selected BioSystems Pathways for BGLAP (see all 6)
        Interleukin-11 Signaling Pathway
    FGF signaling pathway
    Glucocorticoid receptor regulatory network
    Regulation of retinoblastoma protein
    Validated transcriptional targets of AP1 family members Fra1 and Fra2


    1 PharmGKB Pathway for BGLAP
        Warfarin Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BGLAP (see all 6): 
              Osteogenesis in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              WNT Signaling Targets in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BGLAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for BGLAP (P028183 ENSP000003572554) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSBP078583, ENSP000003420704I2D: score=2 STRING: ENSP00000342070
    CTSDP073393, ENSP000002366714I2D: score=2 STRING: ENSP00000236671
    CTSHP096683, ENSP000002201664I2D: score=2 STRING: ENSP00000220166
    CTSSP257743, ENSP000003579814I2D: score=2 STRING: ENSP00000357981
    GGCXP384353, ENSP000002338384I2D: score=1 STRING: ENSP00000233838
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    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10865224
    GO:0001503ossification ----
    GO:0001649osteoblast differentiation IEP17023519
    GO:0002076osteoblast development IEA--
    GO:0007155cell adhesion NAS12202187

    Find genes that share ontologies with BGLAP           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 BGLAP (OSTCN)

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

    4 DrugBank Compounds for BGLAP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phytonadione2-Methyl-3-phythyl-1,4-naphthochinon (see all 12)84-80-0targetagonist11678581 11668761 11374034 10418836 11541904
    Gallium nitrate-- 13494-90-1targetantagonist8366144 8381250
    Gamma-Carboxy-Glutamic Acid-- --target--10592235
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetagonist3060178

    Selected Novoseek inferred chemical compound relationships for BGLAP gene (see all 117)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxypyridinoline 95.2 616 9667483 (4), 10614540 (4), 10219502 (3), 10970981 (3) (see all 99)
    pyridinoline 92.7 353 9667483 (4), 7853745 (4), 10219502 (3), 7572317 (2) (see all 99)
    25-hydroxyvitamin d 89.2 218 20151805 (3), 7747627 (2), 9202793 (2), 20350696 (2) (see all 99)
    hydroxyproline 88 295 18567606 (4), 2232410 (4), 2271160 (3), 11765226 (3) (see all 99)
    vitamin d 87.8 226 1353882 (4), 1484167 (3), 9202793 (2), 11472889 (2) (see all 99)
    calcitriol 86.8 200 12753260 (4), 2035567 (4), 8891532 (4), 12898515 (3) (see all 99)
    procollagen 86.4 179 9541524 (2), 10518820 (2), 10770189 (2), 11063762 (2) (see all 99)
    calcium 83.3 1043 10614547 (6), 11800230 (5), 1991812 (5), 1752232 (5) (see all 99)
    vitamin k1 81.8 84 9541523 (3), 10418836 (3), 9062529 (2), 8844450 (2) (see all 43)
    1,25 dihydroxy vitamin d3 81.7 78 2256116 (4), 2270775 (2), 7747627 (2), 18989673 (2) (see all 63)



    Find genes that share compounds with BGLAP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BGLAP gene: 
    NM_199173.4  

    Unigene Cluster for BGLAP:

    Bone gamma-carboxyglutamate (gla) protein
    Hs.654541  [show with all ESTs]
    Unigene Representative Sequence: BF981435
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368272(uc001fnt.3) ENST00000471413
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate BGLAP:
    hsa-miR-877* hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmidBGLAP 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BGLAP
      QuantiTect SYBR Green Assays in human, mouse, rat BGLAP
      QuantiFast Probe-based Assays in human, mouse, rat BGLAP

    Additional mRNA sequence: 

    BC113432.1 BC113434.1 X51699.1 X53698.1 

    7 DOTS entries:

    DT.75168058  DT.95227866  DT.101975470  DT.100693257  DT.121447231  DT.449815  DT.91723374 

    Selected AceView cDNA sequences (see all 338):

    BM456526 CA503394 AI084122 BQ223114 BF309795 CA418691 F09072 BM723013 
    BF512693 CA306801 BU631827 BG472335 AI127048 BM046810 CF594031 BU622466 
    BE741091 CD369773 BF725575 CA310386 AI336222 BI489591 BQ774541 Z41785 

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


    BGLAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Demineralized bone with osteoprogenitor and adult stem cells (TrinityŽ Evolution)
             Osteoblast-like cells
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Stem cells from human exfoliated deciduous teeth (family)
             Odontoblast-like cells
     
     Limb (Muscoskeletal System)
             Bone Marrow Stromal Cells Pelvic Girdle
     
     Mesenchymal Stem Cells
             Bone Marrow Stromal Cells Pelvic Girdle
    BGLAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BGLAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654541
        Pathway & Disease-focused RT2 Profiler PCR Arrays including BGLAP (see all 6): 
              Osteogenesis in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              WNT Signaling Targets 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 BGLAP
    OriGene qSTAR qPCR primer pairs in human, mouse for BGLAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BGLAP
    QuantiTect SYBR Green Assays in human, mouse, rat BGLAP
    QuantiFast Probe-based Assays in human, mouse, rat BGLAP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BGLAP

    (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 BGLAP gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bglap21 bone gamma-carboxyglutamate protein 2 75(n)
    68.48(a)
      12097  NM_001032298.2  NP_001027469.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia AF055576.12   -- 81.65(n)    AF055576.1 


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

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

    (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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    1 SNPs for BGLAP    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs347023971,2,4
    ----see VAR_0387432 mis40--------

    HapMap Linkage Disequilibrium report for BGLAP (156211753 - 156213123 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BGLAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509524CNV Insertion20534489
    nsv872470CNV Loss21882294

    Human Gene Mutation Database (HGMD): BGLAP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BGLAP
    DNA2.0 Custom Variant and Variant Library Synthesis for BGLAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 112260    OMIM disorders: --

    Selected diseases for BGLAP (see all 39):    
    About MalaCards
    nontoxic goiter    osteofibrous dysplasia    chondroblastic osteosarcoma    kwashiorkor
    renal osteodystrophy    camurati-engelmann disease    vitamin d-dependent rickets type ii    osteitis fibrosa
    dental fluorosis    plagiocephaly    aromatase deficiency    myelomeningocele
    subacute thyroiditis    idiopathic juvenile osteoporosis    villonodular synovitis    hyperthyroidism
    vitamin k deficiency hemorrhagic disease    pigmented villonodular synovitis    bone fracture    cleidocranial dysplasia

    17 diseases from the University of Copenhagen DISEASES database for BGLAP:
    Osteoporosis     Hyperparathyroidism     Vitamin K deficiency hemorrhagic disease     Renal osteodystrophy
    Hypercalcemia     Arthritis     Osteomalacia     Hyperthyroidism
    Hyperostosis     Osteonecrosis     Kidney failure     Diabetes mellitus
    Osteogenesis imperfecta     Osteitis fibrosa     Hypogonadism     Rickets
    Osteopetrosis

    Find genes that share disorders with BGLAP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for BGLAP gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoporosis 88.9 106 15108070 (3), 1785325 (3), 15857090 (2), 1559253 (2) (see all 84)
    bone loss 88.8 36 10565254 (2), 18972258 (2), 11138329 (2), 1874931 (1) (see all 31)
    osteopenia 87.3 26 1918789 (3), 8801201 (2), 18810071 (2), 2319404 (1) (see all 20)
    osteoporosis postmenopausal 84.1 30 1796722 (2), 2099937 (2), 2114993 (1), 7583077 (1) (see all 20)
    bone diseases 83.9 37 10359057 (2), 8671970 (2), 9017618 (2), 11125546 (1) (see all 28)
    bone diseases metabolic 78.2 14 2309579 (1), 1959340 (1), 16751699 (1), 2306557 (1) (see all 12)
    renal osteodystrophy 76.9 4 2208702 (1), 2077408 (1), 2082053 (1), 7865545 (1)
    hyperparathyroidism secondary 76.8 19 1843267 (3), 2368448 (2), 15207772 (2), 10771831 (1) (see all 10)
    osteosarcoma 75.9 83 8593206 (3), 9408606 (2), 7576109 (2), 1657256 (2) (see all 65)
    vitamin k deficiency 72.8 11 18578975 (1), 19363777 (1), 19692494 (1), 15320745 (1) (see all 11)

    Genetic Association Database (GAD): BGLAP
    Human Genome Epidemiology (HuGE) Navigator: BGLAP (21 documents)

    Export disorders for BGLAP 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)
    About This Section

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    PubMed articles for BGLAP gene, integrated from 10 sources (see all 2627):
    (articles sorted by number of sources associating them with BGLAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Lack of association between the HindIII RFLP of the osteocalcin (BGP) gene and bone mineral density (BMD) in healthy pre- and postmenopausal Chinese women. (PubMed id 15108070)1, 4, 9 Mo X.Y....Deng H.W. (J. Bone Miner. Metab. 2004)
    2. Osteocalcin gene polymorphisms influence concentration of serum osteocalcin and enhance fracture identification. (PubMed id 20200947)1, 4, 9 McGuigan F....Akesson K. (J. Bone Miner. Res. 2010)
    3. Association of polymorphisms of interleukin-6, osteocalcin, and vitamin D receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men. (PubMed id 12843190)1, 4, 9 Yamada Y....Shimokata H. (J. Clin. Endocrinol. Metab. 2003)
    4. No evidence of association of the osteocalcin gene HindIII polymorphism with bone mineral density in Chinese women. (PubMed id 17627084)1, 4, 9 Jiang D.K....Deng H.W. (amp 2007)
    5. Relationship of osteocalcin and matrix Gla protein gene polymorphisms to serum osteocalcin levels and bone mineral density in postmenopausal Korean women. (PubMed id 16735944)1, 4, 9 Kim J.G....Moon S.Y. (Menopause 2006)
    6. Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study. (PubMed id 12879219)1, 4, 9 Willing M.C....Levy S.M. (Osteoporos Int 2003)
    7. Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density. (PubMed id 11918225)1, 4, 9 Deng H.W....Recker R.R. (J. Bone Miner. Res. 2002)
    8. Analysis of osteocalcin as a candidate gene for type 2 diabetes (T2D) and intermediate traits in Caucasians and African Americans. (PubMed id 20592451)1, 4 Das S.K....Elbein S.C. (Dis. Markers 2010)
    9. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    10. The association between osteocalcin gene polymorphism and dental fluorosis among children exposed to fluoride in People's Republic of China. (PubMed id 19767102)1, 4 Ba Y....Zhang Y. (Ecotoxicol. Environ. Saf. 2009)

    (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: 632 HGNC: 1043 AceView: PMF1andBGLAP Ensembl:ENSG00000242252 euGenes: HUgn632
    ECgene: BGLAP H-InvDB: BGLAP

    (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 BGLAP Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Osteocalcin
    SeattleSNPshttp://pga.gs.washington.edu/data/bglap/

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

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



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