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Aliases for BGLAP Gene

Aliases for BGLAP Gene

  • Bone Gamma-Carboxyglutamate Protein 2 3 5
  • Gamma-Carboxyglutamic Acid-Containing Protein 3 4
  • Bone Gla Protein 2 4
  • Osteocalcin 2 3
  • BGP 3 4
  • Bone Gamma-Carboxyglutamate (Gla) Protein (Osteocalcin) 3
  • Bone Gamma-Carboxyglutamate (Gla) Protein 2
  • OCN 3
  • OC 3

External Ids for BGLAP Gene

Previous GeneCards Identifiers for BGLAP Gene

  • GC01P154052
  • GC01P151948
  • GC01P152961
  • GC01P153399
  • GC01P152995
  • GC01P153026
  • GC01P154449
  • GC01P154478
  • GC01P127573

Summaries for BGLAP Gene

Entrez Gene Summary for BGLAP Gene

  • This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]

GeneCards Summary for BGLAP Gene

BGLAP (Bone Gamma-Carboxyglutamate Protein) is a Protein Coding gene. Diseases associated with BGLAP include Osteitis Fibrosa and Glucocorticoid-Induced Osteoporosis. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Glucocorticoid receptor regulatory network. Gene Ontology (GO) annotations related to this gene include calcium ion binding and hydroxyapatite binding.

UniProtKB/Swiss-Prot for BGLAP Gene

  • Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium.

Gene Wiki entry for BGLAP Gene

Additional gene information for BGLAP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BGLAP Gene

Genomics for BGLAP Gene

GeneHancer (GH) Regulatory Elements for BGLAP Gene

Promoters and enhancers for BGLAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J156232 Promoter/Enhancer 1.1 EPDnew ENCODE 650.4 -8.4 -8421 1.6 SCRT1 ZBTB21 JUN ZNF121 JUND ZNF366 ZNF629 FOS PRDM1 EGR2 BGLAP SLC25A44 ENSG00000252236 SEMA4A TSACC CCT3 PMF1-BGLAP PMF1 GC01M156228
GH01J156242 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.7 +0.2 208 0.1 POLR2A RUNX3 BGLAP PAQR6 PMF1-BGLAP GC01M156228
GH01J155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 30.8 -997.7 -997720 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA GON4L KHDC4 CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01J156111 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.2 -120.6 -120573 19.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 LMNA GON4L CLK2 KHDC4 RRNAD1 LOC246784 MSTO1 MSTO2P PRCC ENSG00000271267
GH01J155930 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.1 -309.1 -309071 5.4 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC GLIS1 KHDC4 GON4L RRNAD1 ISG20L2 CCT3 MSTO2P MSTO1 LOC101928120 CLK2 ENSG00000271267
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BGLAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BGLAP gene promoter:
  • AP-1
  • p53
  • YY1
  • c-Jun
  • PPAR-gamma1
  • PPAR-gamma2
  • ATF-2
  • C/EBPbeta

Genomic Locations for BGLAP Gene

Genomic Locations for BGLAP Gene
chr1:156,241,962-156,243,332
(GRCh38/hg38)
Size:
1,371 bases
Orientation:
Plus strand
chr1:156,211,753-156,213,123
(GRCh37/hg19)
Size:
1,371 bases
Orientation:
Plus strand

Genomic View for BGLAP Gene

Genes around BGLAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BGLAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BGLAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BGLAP Gene

Proteins for BGLAP Gene

  • Protein details for BGLAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02818-OSTCN_HUMAN
    Recommended name:
    Osteocalcin
    Protein Accession:
    P02818
    Secondary Accessions:
    • Q5TCK6

    Protein attributes for BGLAP Gene

    Size:
    100 amino acids
    Molecular mass:
    10963 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BGLAP Gene

Post-translational modifications for BGLAP Gene

  • Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for the binding of calcium.

Other Protein References for BGLAP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BGLAP Gene

Domains & Families for BGLAP Gene

Gene Families for BGLAP Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for BGLAP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02818

UniProtKB/Swiss-Prot:

OSTCN_HUMAN :
  • Belongs to the osteocalcin/matrix Gla protein family.
Family:
  • Belongs to the osteocalcin/matrix Gla protein family.
genes like me logo Genes that share domains with BGLAP: view

Function for BGLAP Gene

Molecular function for BGLAP Gene

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

Phenotypes From GWAS Catalog for BGLAP Gene

Gene Ontology (GO) - Molecular Function for BGLAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS 10486212
GO:0005509 calcium ion binding IEA --
GO:0008147 structural constituent of bone NAS 12467198
GO:0046848 hydroxyapatite binding NAS 10486212
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BGLAP: view
genes like me logo Genes that share phenotypes with BGLAP: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BGLAP Gene

Localization for BGLAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for BGLAP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BGLAP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BGLAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA,IDA 11856645
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005791 rough endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with BGLAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BGLAP Gene

Pathways & Interactions for BGLAP Gene

genes like me logo Genes that share pathways with BGLAP: view

SIGNOR curated interactions for BGLAP Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BGLAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10865224
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IEP 17023519
GO:0002076 osteoblast development IEA --
GO:0006465 signal peptide processing TAS --
genes like me logo Genes that share ontologies with BGLAP: view

Drugs & Compounds for BGLAP Gene

(79) Drugs for BGLAP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Menadione Approved Nutra Target, agonist 257
calcium Approved Nutra 0
Gallium nitrate Approved, Investigational Pharma Target, antagonist 6
Phytonadione Approved, Investigational Nutra Target, agonist 257
Gamma-Carboxy-Glutamic Acid Experimental Pharma Target 0

(42) Additional Compounds for BGLAP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
vitamin k1
  • Phytonadione
  • 2-Methyl-3-phytyl-1,4-naphthoquinone
  • Phytomenadione
  • Mephyton
  • 2',3'-trans-Vitamin K1
12001-79-5
genes like me logo Genes that share compounds with BGLAP: view

Transcripts for BGLAP Gene

mRNA/cDNA for BGLAP Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(338) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BGLAP Gene

Bone gamma-carboxyglutamate (gla) protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BGLAP Gene

No ASD Table

Relevant External Links for BGLAP Gene

GeneLoc Exon Structure for
BGLAP
ECgene alternative splicing isoforms for
BGLAP

Expression for BGLAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BGLAP Gene

NURSA nuclear receptor signaling pathways regulating expression of BGLAP Gene:

BGLAP

SOURCE GeneReport for Unigene cluster for BGLAP Gene:

Hs.654541

Evidence on tissue expression from TISSUES for BGLAP Gene

  • Bone(4)
  • Blood(3)
  • Muscle(3)
  • Bone marrow(2.9)
  • Urine(2.9)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with BGLAP: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BGLAP Gene

Orthologs for BGLAP Gene

This gene was present in the common ancestor of mammals.

Orthologs for BGLAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BGLAP 34 33
  • 99.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BGLAP 34 33
  • 89.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BGLAP 34 33
  • 83.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bglap 33
  • 77.55 (n)
mouse
(Mus musculus)
Mammalia Bglap2 34 33
  • 75 (n)
OneToMany
Bglap 34
  • 63 (a)
OneToMany
Bglap3 16 34
  • 62 (a)
oppossum
(Monodelphis domestica)
Mammalia BGLAP 34
  • 60 (a)
OneToOne
Species where no ortholog for BGLAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BGLAP Gene

ENSEMBL:
Gene Tree for BGLAP (if available)
TreeFam:
Gene Tree for BGLAP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BGLAP: view image

Paralogs for BGLAP Gene

No data available for Paralogs for BGLAP Gene

Variants for BGLAP Gene

Sequence variations from dbSNP and Humsavar for BGLAP Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs759330 association, Calcium oxalate urolithiasis 156,243,466(+) G/A downstream_transcript_variant
rs1001617365 -- 156,242,155(+) G/A/T 5_prime_UTR_variant
rs1002070456 -- 156,242,923(+) G/A intron_variant
rs1002517925 -- 156,240,099(+) C/A/T upstream_transcript_variant
rs1002620040 -- 156,240,925(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BGLAP Gene

Variant ID Type Subtype PubMed ID
nsv509524 CNV insertion 20534489
nsv547967 CNV gain 21841781

Variation tolerance for BGLAP Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BGLAP Gene

Human Gene Mutation Database (HGMD)
BGLAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BGLAP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BGLAP Gene

Disorders for BGLAP Gene

MalaCards: The human disease database

(81) MalaCards diseases for BGLAP Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteitis fibrosa
  • osteitis fibrosa disseminata
glucocorticoid-induced osteoporosis
  • steroid-induced osteoporosis
renal osteodystrophy
  • renal rickets
bone resorption disease
  • bone resorption
bone remodeling disease
- elite association - COSMIC cancer census association via MalaCards
Search BGLAP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BGLAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BGLAP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BGLAP Gene

Publications for BGLAP Gene

  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. (PMID: 15108070) Mo XY … Deng HW (Journal of bone and mineral metabolism 2004) 3 22 44 58
  2. Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study. (PMID: 12879219) Willing MC … Levy SM (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2003) 3 22 44 58
  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. (PMID: 12843190) Yamada Y … Shimokata H (The Journal of clinical endocrinology and metabolism 2003) 3 22 44 58
  4. Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density. (PMID: 11918225) Deng HW … Recker RR (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2002) 3 22 44 58
  5. Analysis of osteocalcin as a candidate gene for type 2 diabetes (T2D) and intermediate traits in Caucasians and African Americans. (PMID: 20592451) Das SK … Elbein SC (Disease markers 2010) 3 44 58

Products for BGLAP Gene

Sources for BGLAP Gene

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