Gene Gene information from NCBI Gene database.
Entrez ID 632
Gene name Bone gamma-carboxyglutamate protein
Gene symbol BGLAP
Synonyms (NCBI Gene)
BGPOCOCN
Chromosome 1
Chromosome location 1q22
Summary 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.
30
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 Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
ATF4 Unknown 21866569
ATF6 Unknown 22102412
GTF2F1 Unknown 9265625
MSX2 Repression 10569470
NR3C1 Repression 9303434
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
112260 1043 ENSG00000242252
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrolithiasis, calcium oxalate association rs759330 RCV000128582
Associations from Text MiningDisease 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