MEPE (Matrix Extracellular Phosphoglycoprotein)
A key regulator of bone mineralization and phosphate metabolism
Gene Information Card
| Symbol | MEPE |
|---|---|
| Full Name | Matrix Extracellular Phosphoglycoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 56955 ncbi.nlm.nih.gov/gene/56955 |
| Ensembl ID | ENSG00000152583 |
| UniProt ID | Q9NQ76 |
| OMIM ID | 605912 |
| HGNC ID | 13380 |
| Aliases | OF45, MEPE_HUMAN |
Description
MEPE encodes a matrix extracellular phosphoglycoprotein that is primarily expressed in bone and dentin. It plays a critical role in regulating bone mineralization and phosphate homeostasis. MEPE is a member of the SIBLING (Small Integrin-Binding Ligand N-linked Glycoprotein) family and is involved in osteoblast differentiation and matrix mineralization. Overexpression or mutations in MEPE are associated with oncogenic hypophosphatemia and osteomalacia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oncogenic hypophosphatemia (tumor-induced osteomalacia) | MEPE overexpression by tumors leads to increased FGF23 and phosphate wasting | PMID: 11502836, OMIM #605912 |
| Autosomal dominant hypophosphatemic rickets (ADHR) | Mutations in MEPE may contribute to altered phosphate regulation | OMIM #193100 |
| Osteomalacia | Impaired bone mineralization due to MEPE-mediated phosphate dysregulation | PMID: 15040825 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | High |
| Kidney | 2.1 | Low |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Saos-2 (osteosarcoma) | 8.7 | High expression |
| MG-63 (osteosarcoma) | 5.2 | Moderate expression |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.455C>T (p.Pro152Leu) | Missense | <0.01% | Unknown functional effect |
| c.682G>A (p.Gly228Arg) | Missense | <0.01% | Potential loss of function |
| c.1234_1235insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of function, impairing mineralization regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MEPE.
Dominant Negative (DN)
No evidence for dominant-negative effects in MEPE.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • integrin binding (GO:0005178) |
| • bone mineralization (GO:0030282) | • metal ion binding (GO:0046872) |
| • ossification (GO:0001503) |
Pathways
• SIBLING protein family interactions
• Phosphate homeostasis (FGF23 signaling)
• Bone mineralization pathway
Protein Summary
MEPE is a 525-amino acid secreted phosphoprotein with an RGD integrin-binding motif. It is highly expressed in osteoblasts and odontoblasts. The protein inhibits mineralization by binding to hydroxyapatite and modulating phosphate metabolism. Proteolytic cleavage releases an ASARM (acidic serine-aspartate-rich MEPE-associated) motif that further regulates mineralization. MEPE is implicated in tumor-induced osteomalacia and hypophosphatemic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEPE Knockout HEK293 Cell Line | EDJ-KQ12125 | Human | 56955 | Details Get a Quote |
| MEPE Knockout HeLa Cell Line | EDJ-KQ56777 | Human | 56955 | Details Get a Quote |
| MEPE Knockout A-549 Cell Line | EDJ-KQ65279 | Human | 56955 | Details Get a Quote |
| MEPE Knockout HCT 116 Cell Line | EDJ-KQ73723 | Human | 56955 | Details Get a Quote |
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