Gene Gene information from NCBI Gene database.
Entrez ID 56955
Gene name Matrix extracellular phosphoglycoprotein
Gene symbol MEPE
Synonyms (NCBI Gene)
OF45
Chromosome 4
Chromosome location 4q22.1
Summary This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and reg
miRNA miRNA information provided by mirtarbase database.
14
miRTarBase ID miRNA Experiments Reference
MIRT017419 hsa-miR-335-5p Microarray 18185580
MIRT022428 hsa-miR-124-3p Microarray 18668037
MIRT437788 hsa-miR-376a-3p HepG2" 23570370
MIRT2270420 hsa-miR-181a CLIP-seq
MIRT2270421 hsa-miR-181b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10945470
GO:0005201 Function Extracellular matrix structural constituent TAS 10945470
GO:0005515 Function Protein binding IPI 15664000, 17474147, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605912 13361 ENSG00000152595
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQ76
Protein name Matrix extracellular phosphoglycoprotein (Osteoblast/osteocyte factor 45) (OF45) (Osteoregulin)
Protein function Promotes renal phosphate excretion and inhibits intestinal phosphate absorption (PubMed:14962809, PubMed:19005008). Promotes bone mineralization by osteoblasts and cartilage mineralization by chondrocytes (PubMed:18162525, PubMed:19998030, PubMe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07175 Osteoregulin 97 256 Osteoregulin Family
Tissue specificity TISSUE SPECIFICITY: Detected in urine (at protein level) (PubMed:37453717). Expressed by osteoblasts (PubMed:10945470, PubMed:11414762, PubMed:15108058). Expressed by stem cells in dental pulp (PubMed:15153459). Expressed by mesenchymal cells in dental pa
Sequence
MRVFCVGLLLFSVTWAAPTFQPQTEKTKQSCVEEQRQEEKNKDNIGFHHLGKRINQELSS
KENIVQERKKDLSLSEASENKGSSKSQNYFTNRQRLNKEYSISNKENTHNGLRMSIYPKS
TGNKGFEDGDDAISKLHDQEEYGAALIRNNMQHIMGPVTAIKLLGEENKENTPRNVLNII
PASMNYAKAHSKDKKKPQRDSQAQKSPVKSKSTHRIQHNIDYLKHLSKVKKIPSDFEGSG
YTDLQERGDNDISPFS
GDGQPFKDIPGKGEATGPDLEGKDIQTGFAGPSEAESTHLDTKK
PGYNEIPEREENGGNTIGTRDETAKEADAVDVSLVEGSNDIMGSTNFKELPGREGNRVDA
GSQNAHQGKVEFHYPPAPSKEKRKEGSSDAAESTNYNEIPKNGKGSTRKGVDHSNRNQAT
LNEKQRFPSKGKSQGLPIPSRGLDNEIKNEMDSFNGPSHENIITHGRKYHYVPHRQNNST
RNKGMPQGKGSWGRQPHSNRRFSSRRRDDSSESSDSGSSSESDGD
Sequence length 525
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ECM-receptor interaction   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEPE-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Rickets Rickets BEFREE 10945470, 15108058, 25165185
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets CTD_human_DG 11414762
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25479586
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 23069390
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 20884846, 23263486
★☆☆☆☆
Found in Text Mining only
Autosomal dominant hypophosphatemic rickets Hypophosphatemic Rickets BEFREE 12791601
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 17900349, 30287925 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 30287925
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 24747200 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20225759, 29197068
★☆☆☆☆
Found in Text Mining only