BGLAP (bone gamma-carboxyglutamate protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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 Transcription factors information provided by TRRUST V2 database.
10
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
112260 1043 ENSG00000242252
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (250)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTN3 DEFICIENCY ACTN3 DEFICIENCY BEFREE 28254467
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11384100
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 2811660
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 30355501
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 31626573
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 12100166 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 30922195
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 18163903
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Calcification of Aortic valve disease Pubtator 28933309 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 27693387
★★★★★
★☆☆☆☆
Found in Text Mining only