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MEPE matrix extracellular phosphoglycoprotein [ Homo sapiens (human) ]

Gene ID: 56955, updated on 11-Jul-2021

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
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
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Genomic context

See MEPE in Genome Data Viewer
Location:
4q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (87821398..87846792)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88742550..88767969)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene IBSP 5' regulatory region Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 7 Neighboring gene integrin binding sialoprotein Neighboring gene heat shock protein 90 alpha family class B member 3, pseudogene Neighboring gene SPP1 5' regulatory region Neighboring gene secreted phosphoprotein 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
GWAS of dental caries patterns in the permanent dentition.
GeneReviews: Not available
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
GeneReviews: Not available
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.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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.

Genomic

  1. NG_034073.1 RefSeqGene

    Range
    5001..30420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184694.3NP_001171623.1  matrix extracellular phosphoglycoprotein isoform a precursor

    See identical proteins and their annotated locations for NP_001171623.1

    Status: REVIEWED

    Source sequence(s)
    AC093768
    Consensus CDS
    CCDS3625.1
    UniProtKB/Swiss-Prot
    Q9NQ76
    UniProtKB/TrEMBL
    A0A024RDD1, Q8NC19
    Related
    ENSP00000416984.3, ENST00000424957.7
    Conserved Domains (1) summary
    pfam07175
    Location:97256
    Osteoregulin; Osteoregulin
  2. NM_001184695.4NP_001171624.1  matrix extracellular phosphoglycoprotein isoform b

    See identical proteins and their annotated locations for NP_001171624.1

    Status: REVIEWED

    Source sequence(s)
    AC093768
    Consensus CDS
    CCDS54776.1
    UniProtKB/Swiss-Prot
    Q9NQ76
    Conserved Domains (1) summary
    pfam07175
    Location:1143
    Osteoregulin; Osteoregulin
  3. NM_001184696.2NP_001171625.1  matrix extracellular phosphoglycoprotein isoform b

    See identical proteins and their annotated locations for NP_001171625.1

    Status: REVIEWED

    Source sequence(s)
    AC093768
    Consensus CDS
    CCDS54776.1
    UniProtKB/Swiss-Prot
    Q9NQ76
    Related
    ENSP00000443491.1, ENST00000540395.1
    Conserved Domains (1) summary
    pfam07175
    Location:1143
    Osteoregulin; Osteoregulin
  4. NM_001184697.2NP_001171626.1  matrix extracellular phosphoglycoprotein isoform b

    See identical proteins and their annotated locations for NP_001171626.1

    Status: REVIEWED

    Source sequence(s)
    AC093768
    Consensus CDS
    CCDS54776.1
    UniProtKB/Swiss-Prot
    Q9NQ76
    Related
    ENSP00000453994.1, ENST00000560249.5
    Conserved Domains (1) summary
    pfam07175
    Location:1143
    Osteoregulin; Osteoregulin
  5. NM_001291183.2NP_001278112.1  matrix extracellular phosphoglycoprotein isoform c precursor

    See identical proteins and their annotated locations for NP_001278112.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes the longest isoform (c).
    Source sequence(s)
    AC093768
    Consensus CDS
    CCDS77940.1
    UniProtKB/Swiss-Prot
    Q9NQ76
    Related
    ENSP00000378534.4, ENST00000395102.8
    Conserved Domains (1) summary
    pfam07175
    Location:128287
    Osteoregulin; Osteoregulin
  6. NM_020203.6NP_064588.1  matrix extracellular phosphoglycoprotein isoform a precursor

    See identical proteins and their annotated locations for NP_064588.1

    Status: REVIEWED

    Source sequence(s)
    AC093768
    Consensus CDS
    CCDS3625.1
    UniProtKB/Swiss-Prot
    Q9NQ76
    UniProtKB/TrEMBL
    A0A024RDD1
    Related
    ENSP00000354341.3, ENST00000361056.3
    Conserved Domains (1) summary
    pfam07175
    Location:97256
    Osteoregulin; Osteoregulin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    87821398..87846792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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