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Aliases for PTPRE Gene

Aliases for PTPRE Gene

  • Protein Tyrosine Phosphatase, Receptor Type E 2 3 5
  • R-PTP-EPSILON 3 4
  • EC 3.1.3.48 4 61
  • Protein Tyrosine Phosphatase, Receptor Type, Epsilon Polypeptide 3
  • Receptor-Type Tyrosine-Protein Phosphatase Epsilon 3
  • Protein-Tyrosine Phosphatase Epsilon 4
  • HPTPE 3
  • PTPE 3

External Ids for PTPRE Gene

Previous GeneCards Identifiers for PTPRE Gene

  • GC10P128518
  • GC10P128746
  • GC10P129634
  • GC10P129179
  • GC10P129595
  • GC10P123280
  • GC10P129705

Summaries for PTPRE Gene

Entrez Gene Summary for PTPRE Gene

  • The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]

GeneCards Summary for PTPRE Gene

PTPRE (Protein Tyrosine Phosphatase, Receptor Type E) is a Protein Coding gene. Among its related pathways are Signal transduction_Erk Interactions- Inhibition of Erk and PAK Pathway. GO annotations related to this gene include protein homodimerization activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRA.

UniProtKB/Swiss-Prot for PTPRE Gene

  • Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity).

  • Isoform 2 acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity).

  • Isoform 1 and isoform 2 act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+).

Gene Wiki entry for PTPRE Gene

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

Genomics for PTPRE Gene

Regulatory Elements for PTPRE Gene

Enhancers for PTPRE 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
GH10G127986 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.7 +82.5 82453 6.8 SIN3A FEZF1 ZNF335 ZNF366 GATA2 FOS ZNF263 USF2 CEBPB OVOL3 PTPRE CLRN3 GC10P127998 GC10M127969
GH10G127976 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.7 +70.9 70871 3.5 ZNF146 NFIB JUN SIN3A MAX CEBPB ZIC2 NR2F2 GABPA NFIC PTPRE GC10M127969 GC10P127998
GH10G127878 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.3 -26.2 -26166 4.4 CTCF NR2F1 HLF ZSCAN4 MAX CEBPB MNT KLF4 ZNF644 NCOR1 PTPRE BUB1P1 CLRN3
GH10G127944 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +38.8 38846 2.6 PKNOX1 NFIB INSM2 BRCA1 RFX5 GATA2 ZNF366 SCRT2 FOS EGR2 ENSG00000232259 PTPRE ENSG00000227076 NPS GC10M127969
GH10G127925 1.3 Ensembl ENCODE dbSUPER 12.1 +20.3 20290 4.7 JUN BRCA1 RAD21 RFX5 GATA3 RCOR1 FOS TCF7L2 EZH2 GFI1B PTPRE CLRN3 ENSG00000232259
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPRE on UCSC Golden Path with GeneCards custom track

Promoters for PTPRE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035149 339 1201 CTCF MXI1 RBBP5 ZBTB7B RAD21 HIC1 ZFHX2 CTBP1 EGR1 ZBTB48

Genomic Location for PTPRE Gene

Chromosome:
10
Start:
127,907,061 bp from pter
End:
128,085,916 bp from pter
Size:
178,856 bases
Orientation:
Plus strand

Genomic View for PTPRE Gene

Genes around PTPRE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTPRE Gene

Proteins for PTPRE Gene

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

    Protein Symbol:
    P23469-PTPRE_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase epsilon
    Protein Accession:
    P23469
    Secondary Accessions:
    • Q13345
    • Q5VWH3
    • Q5VWH4
    • Q96KQ6

    Protein attributes for PTPRE Gene

    Size:
    700 amino acids
    Molecular mass:
    80642 Da
    Quaternary structure:
    • Monomer. Isoform 2: Homodimer. Can form oligomers. Dimerization is increased by oxidative stress and decreased by EGFR. Isoform 2 interacts with GRB2 (By similarity).
    SequenceCaution:
    • Sequence=AAC50324.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTPRE Gene

    Alternative splice isoforms for PTPRE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRE Gene

Selected DME Specific Peptides for PTPRE Gene

P23469:
  • EKNKFIAAQGPK
  • LRLQRPHMVQ
  • IAAVQKQQQQ
  • YLYGDTEL
  • TNLKERKE
  • RQFHFHGWPE
  • VVHCSAG
  • NASFIDGYR
  • VHCSAGVGRTG
  • DYINASF
  • KCHQYWP
  • DFWRMVW
  • HFTSWPDFGVPFTPIGMLKFLKKVK
  • GNHPITVHCSAGAGRTGTF
  • FIYQALLE
  • PIVVHCS

Post-translational modifications for PTPRE Gene

  • A catalytically active cytoplasmic form (p65) is produced by proteolytic cleavage of either isoform 1, isoform 2 or isoform 3.
  • Isoform 1 and isoform 2 are phosphorylated on tyrosine residues by tyrosine kinase Neu.
  • Isoform 1 is glycosylated.
  • Glycosylation at isoforms=23 and Asn30
  • Modification sites at PhosphoSitePlus

Domains & Families for PTPRE Gene

Gene Families for PTPRE Gene

Graphical View of Domain Structure for InterPro Entry

P23469

UniProtKB/Swiss-Prot:

PTPRE_HUMAN :
  • The tyrosine-protein phosphatase 2 domain (D2) mediates dimerization. The extreme N- and C- termini of the D2 domain act to inhibit dimerization and removal of these sequences increases dimerization and inhibits enzyme activity (By similarity).
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily.
Domain:
  • The tyrosine-protein phosphatase 2 domain (D2) mediates dimerization. The extreme N- and C- termini of the D2 domain act to inhibit dimerization and removal of these sequences increases dimerization and inhibits enzyme activity (By similarity).
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily.
genes like me logo Genes that share domains with PTPRE: view

Function for PTPRE Gene

Molecular function for PTPRE Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor-type IV,epsilon polypeptide
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2 acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 1 and isoform 2 act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+).
UniProtKB/Swiss-Prot Induction:
Up-regulated by 12-O-tetradecanoylphorbol-13-acetate (TPA) in HL-60 cells.

Enzyme Numbers (IUBMB) for PTPRE Gene

Gene Ontology (GO) - Molecular Function for PTPRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS 2170109
GO:0005515 protein binding IPI 10980613
GO:0016787 hydrolase activity IEA --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with PTPRE: view
genes like me logo Genes that share phenotypes with PTPRE: view

Animal Models for PTPRE Gene

MGI Knock Outs for PTPRE:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTPRE

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPRE Gene

Localization for PTPRE Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRE Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Cytoplasm. Note=Predominantly cytoplasmic. A small fraction is also associated with nucleus and membrane. Insulin induces translocation to the membrane (By similarity). {ECO:0000250}.
Isoform 3: Cytoplasm.

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 PTPRE gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 3
endoplasmic reticulum 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for PTPRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10980613
GO:0005737 cytoplasm IDA,IEA 10980613
GO:0005886 plasma membrane IDA,IEA 10980613
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTPRE: view

Pathways & Interactions for PTPRE Gene

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

Pathways by source for PTPRE Gene

1 GeneGo (Thomson Reuters) pathway for PTPRE Gene
1 Qiagen pathway for PTPRE Gene

Gene Ontology (GO) - Biological Process for PTPRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS,IEA 2170109
GO:0007185 transmembrane receptor protein tyrosine phosphatase signaling pathway IEA --
GO:0016311 dephosphorylation IEA --
GO:0033003 regulation of mast cell activation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
genes like me logo Genes that share ontologies with PTPRE: view

No data available for SIGNOR curated interactions for PTPRE Gene

Drugs & Compounds for PTPRE Gene

(5) Drugs for PTPRE Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alendronate Approved Pharma Inhibition, Inhibitor, Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 162
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(2) Additional Compounds for PTPRE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PTPRE: view

Transcripts for PTPRE Gene

Unigene Clusters for PTPRE Gene

Protein tyrosine phosphatase, receptor type, E:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTPRE

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

No ASD Table

Relevant External Links for PTPRE Gene

GeneLoc Exon Structure for
PTPRE
ECgene alternative splicing isoforms for
PTPRE

Expression for PTPRE Gene

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

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

This gene is overexpressed in Whole Blood (x12.0).

Protein differential expression in normal tissues from HIPED for PTPRE Gene

This gene is overexpressed in Breast (31.1), Peripheral blood mononuclear cells (9.1), and Heart (7.8).

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



NURSA nuclear receptor signaling pathways regulating expression of PTPRE Gene:

PTPRE

SOURCE GeneReport for Unigene cluster for PTPRE Gene:

Hs.127022

mRNA Expression by UniProt/SwissProt for PTPRE Gene:

P23469-PTPRE_HUMAN
Tissue specificity: Expressed in giant cell tumor (osteoclastoma rich in multinucleated osteoclastic cells).

Evidence on tissue expression from TISSUES for PTPRE Gene

  • Nervous system(4.6)
  • Blood(2)
genes like me logo Genes that share expression patterns with PTPRE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRE Gene

Orthologs for PTPRE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PTPRE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPRE 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia PTPRE 34 35
  • 90.56 (n)
cow
(Bos Taurus)
Mammalia PTPRE 34 35
  • 88.33 (n)
mouse
(Mus musculus)
Mammalia Ptpre 34 16 35
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Ptpre 34
  • 86.77 (n)
oppossum
(Monodelphis domestica)
Mammalia PTPRE 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPRE 34 35
  • 77.47 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpre 34
  • 76.75 (n)
zebrafish
(Danio rerio)
Actinopterygii ptprea 34 35
  • 74.58 (n)
ptpreb 35
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ptp52F 36
  • 43 (a)
Ptp69D 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea T28F4.3 36
  • 38 (a)
ZK616.7 36
  • 35 (a)
M04G7.2 36
  • 34 (a)
T27A3.5 36
  • 34 (a)
K07F5.8 36
  • 33 (a)
T22C1.8 36
  • 33 (a)
Y48G9A.9 36
  • 33 (a)
F47B3.1 36
  • 32 (a)
F47B3.6 36
  • 32 (a)
F25H5.7 36
  • 31 (a)
F55F8.7 36
  • 31 (a)
ptp-3 35
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTP2 37
Species where no ortholog for PTPRE 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PTPRE Gene

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

Paralogs for PTPRE Gene

Variants for PTPRE Gene

Sequence variations from dbSNP and Humsavar for PTPRE Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000035285 -- 127,989,947(+) TATCG(A/G)GTTTA intron-variant
rs1000044364 -- 128,081,520(+) CAGAG(C/T)AATTA intron-variant
rs1000056326 -- 128,060,111(+) CACAT(A/G)CACAC intron-variant
rs1000077605 -- 128,002,468(+) GAACA(A/G)GTGCC intron-variant
rs1000087885 -- 127,915,725(+) TCAAA(G/T)GTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv989n100 CNV gain 25217958
esv23475 CNV gain 19812545
esv2671595 CNV deletion 23128226
esv26786 CNV loss 19812545
esv34105 CNV loss 18971310
esv3412866 CNV insertion 20981092
esv3450938 CNV duplication 20981092
esv3547036 CNV deletion 23714750
esv3547037 CNV deletion 23714750
esv3547038 CNV deletion 23714750
esv3579223 CNV loss 25503493
esv3624894 CNV loss 21293372
esv3624895 CNV loss 21293372
nsv1120231 CNV tandem duplication 24896259
nsv1122568 CNV deletion 24896259
nsv819343 CNV gain 19587683
nsv832020 CNV gain 17160897

Variation tolerance for PTPRE Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPRE Gene

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

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

Disorders for PTPRE Gene

Relevant External Links for PTPRE

Genetic Association Database (GAD)
PTPRE
Human Genome Epidemiology (HuGE) Navigator
PTPRE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPRE

No disorders were found for PTPRE Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PTPRE Gene

Publications for PTPRE Gene

  1. Generation of novel cytoplasmic forms of protein tyrosine phosphatase epsilon by proteolytic processing and translational control. (PMID: 10980613) Gil-Henn H. … Elson A. (Oncogene 2000) 3 4 22 64
  2. Identification of a cytoplasmic, phorbol ester-inducible isoform of protein tyrosine phosphatase epsilon. (PMID: 8618876) Elson A. … Leder P. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 22 64
  3. Assignment of the human protein tyrosine phosphatase epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization. (PMID: 8595895) van den Maagdenberg A.M. … Hendriks W.J. (Genomics 1995) 2 3 22 64
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for PTPRE Gene

  • Addgene plasmids for PTPRE

Sources for PTPRE Gene

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