Human Gene MEPE (ENST00000424957.8) from GENCODE V44
  Description: Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 1, mRNA. (from RefSeq NM_001184694)
RefSeq Summary (NM_001184694): 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].
Gencode Transcript: ENST00000424957.8
Gencode Gene: ENSG00000152595.17
Transcript (Including UTRs)
   Position: hg38 chr4:87,821,398-87,846,814 Size: 25,417 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr4:87,834,715-87,846,446 Size: 11,732 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:87,821,398-87,846,814)mRNA (may differ from genome)Protein (525 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MEPE_HUMAN
DESCRIPTION: RecName: Full=Matrix extracellular phosphoglycoprotein; AltName: Full=Osteoblast/osteocyte factor 45; Short=OF45; Flags: Precursor;
FUNCTION: Promotes renal phosphate excretion and modulates mineralization.
INTERACTION: P16333:NCK1; NbExp=3; IntAct=EBI-1753293, EBI-389883;
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Expressed by osteoblasts. Secreted from oncogenic hypophosphataemic tumors.
PTM: Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MEPE
Diseases sorted by gene-association score: hypophosphatemic rickets, autosomal dominant (9), hypophosphatemia (7), oncogenic osteomalacia (3), osteoporosis (2), alcohol-induced mental disorder (2), alcoholic psychosis (2), tetanus neonatorum (1), hypophosphatemic rickets with hypercalciuria (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.43 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 7.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.6086-0.181 Picture PostScript Text
3' UTR -80.00368-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009837 - Osteoregulin

Pfam Domains:
PF07175 - Osteoregulin

ModBase Predicted Comparative 3D Structure on Q9NQ76
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:1990430 extracellular matrix protein binding

Biological Process:
GO:0001501 skeletal system development
GO:0031214 biomineral tissue development
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  AK075076 - Homo sapiens cDNA FLJ90595 fis, clone PLACE1001183.
AK307774 - Homo sapiens cDNA, FLJ97722.
BC128158 - Homo sapiens matrix extracellular phosphoglycoprotein, mRNA (cDNA clone MGC:149249 IMAGE:40112903), complete cds.
AJ276396 - Homo sapiens mRNA for matrix extracellular phosphoglycoprotein (MEPE gene).
AF325916 - Homo sapiens matrix extracellular phosphoglycoprotein precursor (MEPE) mRNA, complete cds.
KJ899283 - Synthetic construct Homo sapiens clone ccsbBroadEn_08677 MEPE gene, encodes complete protein.
DQ854717 - Homo sapiens matrix extracellular phosphoglycoprotein (MEPE) mRNA, partial cds, alternatively spliced.
JD496234 - Sequence 477258 from Patent EP1572962.
JD099681 - Sequence 80705 from Patent EP1572962.
JD384581 - Sequence 365605 from Patent EP1572962.
JD177409 - Sequence 158433 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NQ76 (Reactome details) participates in the following event(s):

R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: A1A4X9, A8MTA3, D2CFR4, ENST00000424957.1, ENST00000424957.2, ENST00000424957.3, ENST00000424957.4, ENST00000424957.5, ENST00000424957.6, ENST00000424957.7, MEPE_HUMAN, NM_001184694, Q9NQ76, uc021xpu.1, uc021xpu.2, uc021xpu.3
UCSC ID: ENST00000424957.8
RefSeq Accession: NM_001184694
Protein: Q9NQ76 (aka MEPE_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.