BGLAP (Bone Gamma-Carboxyglutamate Protein)
Osteocalcin: A Key Regulator of Bone Mineralization and Glucose Metabolism
Gene Information Card
| Symbol | BGLAP |
|---|---|
| Full Name | Bone Gamma-Carboxyglutamate Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 632 ncbi.nlm.nih.gov/gene/632 |
| Ensembl ID | ENSG00000141431 |
| UniProt ID | P02818 |
| OMIM ID | 112260 |
| HGNC ID | 1043 |
| Aliases | OCN, BGP, osteocalcin |
Description
BGLAP encodes osteocalcin, a small non-collagenous protein secreted by osteoblasts. It is the most abundant osteoblast-specific protein and undergoes post-translational gamma-carboxylation of glutamic acid residues, which is essential for its calcium-binding properties. Osteocalcin is deposited into bone extracellular matrix and regulates bone mineralization. The uncarboxylated form acts as a hormone to influence glucose metabolism, insulin sensitivity, and energy expenditure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | Reduced osteocalcin levels impair bone matrix quality and mineralization, increasing fracture risk. | ClinVar, OMIM |
| Type 2 Diabetes | Uncarboxylated osteocalcin enhances insulin secretion and sensitivity; low levels are associated with impaired glucose tolerance. | NCBI, PubMed |
| Hyperparathyroidism | Elevated PTH increases bone turnover and serum osteocalcin levels, reflecting altered bone metabolism. | OMIM |
| Bone Metastasis | Osteocalcin levels are elevated in osteoblastic metastases (e.g., prostate cancer) as a marker of bone formation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | High (nTPM: 1000+) | High |
| Adipose tissue | Low (nTPM: 1-5) | Low |
| Pancreas | Low (nTPM: 1-3) | Low |
| Kidney | Not detected | Not detected |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MG-63 (osteosarcoma) | High | Osteoblast-like cell line |
| Saos-2 (osteosarcoma) | High | Osteoblast-like cell line |
| hFOB 1.19 (osteoblast) | High | Immortalized human fetal osteoblasts |
| MCF-7 (breast cancer) | Not detected | Non-osteogenic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.79C>T (p.Arg27Cys) | Missense | Rare | Alters gamma-carboxylation site; reduced calcium binding |
| c.298C>T (p.Arg100Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or gamma-carboxylation sites (e.g., p.Met1?, p.Arg27Cys) impair protein synthesis or calcium binding, leading to defective bone mineralization.
Gain of Function (GOF)
No gain-of-function mutations reported in BGLAP.
Dominant Negative (DN)
No dominant-negative mutations reported in BGLAP.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005179 (hormone activity) | • GO:0005509 (calcium ion binding) |
| • GO:0030282 (bone mineralization) | • GO:0046872 (metal ion binding) |
| • GO:0005576 (extracellular region) | • GO:0005615 (extracellular space) |
Pathways
• Bone mineralization (Reactome: R-HSA-1474224)
• Osteoblast differentiation (KEGG: hsa04350)
• Insulin secretion and glucose homeostasis (Reactome: R-HSA-422085)
Protein Summary
Osteocalcin (UniProt P02818) is a 49-amino acid mature protein (after signal peptide cleavage) with three gamma-carboxyglutamic acid (Gla) residues that enable high-affinity binding to hydroxyapatite in bone. It is synthesized as a preproprotein (100 aa) and processed intracellularly. The uncarboxylated form (ucOCN) acts as a hormone, binding to GPRC6A on pancreatic beta cells and adipocytes to promote insulin secretion and sensitivity. Osteocalcin is a widely used clinical biomarker for bone formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BGLAP Knockout HEK293 Cell Line | EDJ-KQ50155 | Human | 632 | Details Get a Quote |
| PMF1-BGLAP Knockout HEK293 Cell Line | EDJ-KQ52483 | Human | 100527963 | Details Get a Quote |
| BGLAP Knockout HeLa Cell Line | EDJ-KQ52717 | Human | 632 | Details Get a Quote |
| PMF1-BGLAP Knockout HeLa Cell Line | EDJ-KQ60946 | Human | 100527963 | Details Get a Quote |
| BGLAP Knockout A-549 Cell Line | EDJ-KQ61188 | Human | 632 | Details Get a Quote |
| PMF1-BGLAP Knockout A-549 Cell Line | EDJ-KQ69421 | Human | 100527963 | Details Get a Quote |
| BGLAP Knockout HCT 116 Cell Line | EDJ-KQ69680 | Human | 632 | Details Get a Quote |
| PMF1-BGLAP Knockout HCT 116 Cell Line | EDJ-KQ77772 | Human | 100527963 | Details Get a Quote |
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