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Aliases for MEPE Gene

Aliases for MEPE Gene

  • Matrix Extracellular Phosphoglycoprotein 2 3 5
  • Matrix, Extracellular Phosphoglycoprotein With ASARM Motif (Bone) 2 3
  • Osteoblast/Osteocyte Factor 45 3 4
  • OF45 3 4

External Ids for MEPE Gene

Previous GeneCards Identifiers for MEPE Gene

  • GC04P088911
  • GC04P089055
  • GC04P089212
  • GC04P089191
  • GC04P089099
  • GC04P088961
  • GC04P088754
  • GC04P084488

Summaries for MEPE Gene

Entrez Gene Summary for MEPE Gene

  • 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]

GeneCards Summary for MEPE Gene

MEPE (Matrix Extracellular Phosphoglycoprotein) is a Protein Coding gene. Diseases associated with MEPE include Hypophosphatemic Rickets, Autosomal Dominant and Hypophosphatemia. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent.

UniProtKB/Swiss-Prot for MEPE Gene

  • Promotes renal phosphate excretion and modulates mineralization.

Gene Wiki entry for MEPE Gene

Additional gene information for MEPE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEPE Gene

Genomics for MEPE Gene

Regulatory Elements for MEPE Gene

Enhancers for MEPE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H087843 1 FANTOM5 Ensembl ENCODE 11.5 +22.9 22865 1 JUN FOS SPP1 MEPE PKD2 HSD17B11 HSP90AB3P
GH04H087588 1 Ensembl ENCODE 10.2 -231.8 -231785 1 JUN INSM2 HIC1 CTBP1 GATA3 FOS MAFK SMARCE1 CEBPB DPF2 DMP1 SPARCL1 MEPE DSPP
GH04H087909 1.4 Ensembl ENCODE dbSUPER 7.2 +89.8 89848 3 ELF3 TBP FOXA2 MLX ARID4B DNMT3B THRB ZSCAN9 RAD21 RARA SPP1 PKD2 MEPE PIR37483
GH04H087916 0.8 ENCODE dbSUPER 5.9 +98.1 98126 5 POLR2A TAL1 POU5F1 USF2 PRDM1 SPP1 MEPE PIR37483
GH04H087949 0.8 Ensembl ENCODE 4.6 +129.1 129067 1 OSR2 PRDM6 ZNF692 WT1 SP7 SPP1 MEPE PIR37483
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MEPE on UCSC Golden Path with GeneCards custom track

Genomic Location for MEPE Gene

Chromosome:
4
Start:
87,821,398 bp from pter
End:
87,846,817 bp from pter
Size:
25,420 bases
Orientation:
Plus strand

Genomic View for MEPE Gene

Genes around MEPE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEPE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEPE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEPE Gene

Proteins for MEPE Gene

  • Protein details for MEPE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ76-MEPE_HUMAN
    Recommended name:
    Matrix extracellular phosphoglycoprotein
    Protein Accession:
    Q9NQ76
    Secondary Accessions:
    • A1A4X9
    • A8MTA3
    • D2CFR4
    • F5H5C5

    Protein attributes for MEPE Gene

    Size:
    525 amino acids
    Molecular mass:
    58419 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MEPE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEPE Gene

Post-translational modifications for MEPE Gene

  • Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif.
  • Glycosylation at Asn477 and posLast=478478
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MEPE Gene

Domains & Families for MEPE Gene

Gene Families for MEPE Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for MEPE Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MEPE: view

No data available for UniProtKB/Swiss-Prot for MEPE Gene

Function for MEPE Gene

Molecular function for MEPE Gene

UniProtKB/Swiss-Prot Function:
Promotes renal phosphate excretion and modulates mineralization.

Phenotypes From GWAS Catalog for MEPE Gene

Gene Ontology (GO) - Molecular Function for MEPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 10945470
GO:0005515 protein binding IPI 17474147
GO:1990430 extracellular matrix protein binding IBA --
genes like me logo Genes that share ontologies with MEPE: view
genes like me logo Genes that share phenotypes with MEPE: view

Animal Models for MEPE Gene

MGI Knock Outs for MEPE:

Animal Model Products

CRISPR Products

miRNA for MEPE Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MEPE Gene

Localization for MEPE Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEPE Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEPE gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 1
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MEPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IBA,TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with MEPE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MEPE Gene

Pathways & Interactions for MEPE Gene

genes like me logo Genes that share pathways with MEPE: view

Pathways by source for MEPE Gene

Interacting Proteins for MEPE Gene

Gene Ontology (GO) - Biological Process for MEPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10945470
GO:0030502 negative regulation of bone mineralization IEA --
GO:0031214 biomineral tissue development IBA --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with MEPE: view

No data available for SIGNOR curated interactions for MEPE Gene

Drugs & Compounds for MEPE Gene

(1) Drugs for MEPE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MEPE: view

Transcripts for MEPE Gene

mRNA/cDNA for MEPE Gene

Unigene Clusters for MEPE Gene

Matrix extracellular phosphoglycoprotein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEPE Gene

No ASD Table

Relevant External Links for MEPE Gene

GeneLoc Exon Structure for
MEPE
ECgene alternative splicing isoforms for
MEPE

Expression for MEPE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MEPE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEPE Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x14.3), Brain - Frontal Cortex (BA9) (x11.7), Brain - Cortex (x8.4), Brain - Amygdala (x6.0), and Brain - Hippocampus (x5.7).

Protein differential expression in normal tissues from HIPED for MEPE Gene

This gene is overexpressed in Fetal ovary (50.7) and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MEPE Gene



Protein tissue co-expression partners for MEPE Gene

NURSA nuclear receptor signaling pathways regulating expression of MEPE Gene:

MEPE

SOURCE GeneReport for Unigene cluster for MEPE Gene:

Hs.676357

mRNA Expression by UniProt/SwissProt for MEPE Gene:

Q9NQ76-MEPE_HUMAN
Tissue specificity: Expressed by osteoblasts. Secreted from oncogenic hypophosphataemic tumors.

Evidence on tissue expression from TISSUES for MEPE Gene

  • Bone(4.5)
genes like me logo Genes that share expression patterns with MEPE: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MEPE Gene

Orthologs for MEPE Gene

This gene was present in the common ancestor of mammals.

Orthologs for MEPE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEPE 33 34
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia MEPE 33
  • 83.1 (n)
cow
(Bos Taurus)
Mammalia MEPE 33 34
  • 78.92 (n)
rat
(Rattus norvegicus)
Mammalia Mepe 33
  • 67.93 (n)
mouse
(Mus musculus)
Mammalia Mepe 33 16 34
  • 67.81 (n)
oppossum
(Monodelphis domestica)
Mammalia MEPE 34
  • 35 (a)
OneToOne
Species where no ortholog for MEPE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MEPE Gene

ENSEMBL:
Gene Tree for MEPE (if available)
TreeFam:
Gene Tree for MEPE (if available)

Paralogs for MEPE Gene

No data available for Paralogs for MEPE Gene

Variants for MEPE Gene

Sequence variations from dbSNP and Humsavar for MEPE Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000009864 -- 87,830,809(+) CAGCA(A/G)AATTT intron-variant
rs1000046417 -- 87,819,830(+) TTCTC(C/T)CTGTG upstream-variant-2KB
rs1000074794 -- 87,829,410(+) GGTTT(G/T)TCTAG intron-variant
rs1000289485 -- 87,820,071(+) TTCCC(G/T)TTCCC upstream-variant-2KB
rs1000326586 -- 87,825,695(+) CTATC(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MEPE Gene

Variant ID Type Subtype PubMed ID
dgv94n17 CNV loss 16327808
esv275333 CNV gain+loss 21479260
esv3575757 CNV gain 25503493
nsv822637 CNV gain 20364138

Variation tolerance for MEPE Gene

Residual Variation Intolerance Score: 89.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEPE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEPE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEPE Gene

Disorders for MEPE Gene

MalaCards: The human disease database

(8) MalaCards diseases for MEPE Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypophosphatemic rickets, autosomal dominant
  • autosomal dominant hypophosphatemic rickets
hypophosphatemia
oncogenic osteomalacia
  • oo
osteoporosis
  • osteoporosis, postmenopausal, susceptibility
alcohol-induced mental disorder
  • psychoses, alcoholic
- elite association - COSMIC cancer census association via MalaCards
Search MEPE in MalaCards View complete list of genes associated with diseases

Relevant External Links for MEPE

Genetic Association Database (GAD)
MEPE
Human Genome Epidemiology (HuGE) Navigator
MEPE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEPE
genes like me logo Genes that share disorders with MEPE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MEPE Gene

Publications for MEPE Gene

  1. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. (PMID: 10945470) Rowe PS … Oudet CL (Genomics 2000) 2 3 4 22 60
  2. Mepe, the gene encoding a tumor-secreted protein in oncogenic hypophosphatemic osteomalacia, is expressed in bone. (PMID: 11414762) Argiro L … Ecarot B (Genomics 2001) 3 4 22 60
  3. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. (PMID: 22582013) Tagliabracci VS … Dixon JE (Science (New York, N.Y.) 2012) 3 4 60
  4. Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study. (PMID: 21779381) Schürks M … Kurth T (PloS one 2011) 3 45 60
  5. MEPE's diverse effects on mineralization. (PMID: 19998030) Boskey AL … Rowe PS (Calcified tissue international 2010) 3 22 60

Products for MEPE Gene

Sources for MEPE Gene

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