MEPE matrix extracellular phosphoglycoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEPEprovided by HGNC
Official Full Name: matrix extracellular phosphoglycoproteinprovided by HGNC
Primary source: HGNC:HGNC:13361
See related: Ensembl:ENSG00000152595 MIM:605912; AllianceGenome:HGNC:13361
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OF45
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 regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression: Restricted expression toward brain (RPKM 2.2) See more
Orthologs: mouse all
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Genomic context

Location:: 4q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (87821398..87846792)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (91147835..91173227)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (88742550..88767944)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Active sites of human MEPE-ASARM regulating bone matrix mineralization.
Title: Active sites of human MEPE-ASARM regulating bone matrix mineralization.
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.
Title: MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.
sequencing identified a rare segregating heterozygous frameshift variant p.(Gln425Lysfs*38) in MEPE. We performed variant burden and variance components analyses in a large otosclerosis cohort and demonstrated that nonsense and frameshift MEPE variants were significantly enriched in affected subjects (p = 0.0006-0.0060).
Title: Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Results indicate an association of MEPE gene inactivation with decreased survival after DNA damage.
Title: MicroRNA-376a sensitizes cells following DNA damage by downregulating MEPE expression.
Mice deficient in an ortholog of MEPE show increased bone mass and are resistant to aging-related bone loss.
Title: Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass.
results indicated that MEPE appeared to play an important positive role in proliferation and osteogenesis differentiation of DPCs through interaction with downstream signals.
Title: The effect of matrix extracellular phosphoglycoprotein and its downstream osteogenesis-related gene expression on the proliferation and differentiation of human dental pulp cells.
MEPE or the MEPE-derived acidic serine aspartate-rich MEPE-associated motif peptide may contribute to decreased bone mineralization in Oncogenic osteomalacia patients.
Title: Matrix extracellular phosphoglycoprotein is expressed in causative tumors of oncogenic osteomalacia.
Among migraineurs with aura rs7698623 in MEPE (OR = 6.37; 95% CI 3.15-12.90; p = 2.7x10(-7)) and rs4975709 in IRX4 (OR = 5.06; 95% CI 2.66-9.62; p = 7.7x10(-7)) appeared to be associated with ischemic stroke.
Title: Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.
Sclerostin acts through regulation of the PHEX/MEPE axis at the preosteocyte stage and serves as a master regulator of physiologic bone mineralization.
Title: Sclerostin is a locally acting regulator of late-osteoblast/preosteocyte differentiation and regulates mineralization through a MEPE-ASARM-dependent mechanism.
MEPE may play a regulatory role in periodontal ligament cell osteogenic differentiation.
Title: [Expression of matrix extracellular phosphoglycoprotein mRNA in human periodontal ligament cell osteogenic differentiation].

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of dental caries patterns in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: matrix extracellular phosphoglycoprotein

Names: matrix, extracellular phosphoglycoprotein with ASARM motif (bone); osteoblast/osteocyte factor 45; osteoregulin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.