BGLAP (bone gamma-carboxyglutamate protein)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
632
Gene name Gene Name - the full gene name approved by the HGNC.
Bone gamma-carboxyglutamate protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BGLAP
Synonyms (NCBI Gene) Gene synonyms aliases
BGP, OC, OCN
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez 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, th
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT003596 hsa-miR-135b-5p qRT-PCR 19795981
MIRT021227 hsa-miR-146a-5p qRT-PCR 20110513
MIRT026111 hsa-miR-192-5p Microarray 19074876
MIRT028806 hsa-miR-26b-5p Microarray 19088304
MIRT032219 hsa-let-7b-5p Proteomics 18668040
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ATF4 Unknown 21866569
ATF6 Unknown 22102412
GTF2F1 Unknown 9265625
MSX2 Repression 10569470
NR3C1 Repression 9303434
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10865224
GO:0001503 Process Ossification IEA
GO:0001649 Process Osteoblast differentiation IBA
GO:0001649 Process Osteoblast differentiation IEA
GO:0001649 Process Osteoblast differentiation IEP 17023519
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
112260 1043 ENSG00000242252
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P02818
Protein name Osteocalcin (Bone Gla protein) (BGP) (Gamma-carboxyglutamic acid-containing protein)
Protein function Bone protein that constitutes 1-2% of the total bone protein, and which acts as a negative regulator of bone formation (PubMed:3019668, PubMed:6967872). Functions to limit bone formation without impairing bone resorption or mineralization (By si
PDB 8XS1 , 9BUR , 9BUX
Family and domains
Sequence 
MRALTLLALLALAALCIAGQAGAKPSGAESSKGAAFVSKQEGSEVVKRPRRYLYQWLGAP
VPYPDPLEPRREVCELNPDCDELADHIGFQEAYRRFYGPV
Sequence length 100
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Parathyroid hormone synthesis, secretion and action   Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Nephronophthisis nephrolithiasis, calcium oxalate N/A N/A ClinVar
Parkinson disease Parkinson disease N/A N/A GWAS
Show/Hide Text Mining Associations (124)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Stimulate 17183249
Acrocephalosyndactylia Associate 11342579
Adamantinoma Associate 21983933
Anemia Aplastic Associate 12100166
Aortic Valve Calcification of Inhibit 28933309
Arthropathy progressive pseudorheumatoid of childhood Associate 35462544
Atherosclerosis Associate 22855739, 23206207, 31455100
Atypical Squamous Cells of the Cervix Inhibit 31108390
Bankart Lesions Associate 38391368
Bone Cysts Associate 20955951, 26241776