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... See more...

Aliases for PTPRE Gene

Aliases for PTPRE Gene

  • Protein Tyrosine Phosphatase Receptor Type E 2 3 5
  • Receptor-Type Tyrosine-Protein Phosphatase Epsilon 3 4
  • EC 3.1.3.48 4 50
  • PTPE 2 3
  • Protein Tyrosine Phosphatase, Receptor Type, Epsilon Polypeptide 3
  • Protein-Tyrosine Phosphatase Epsilon 4
  • R-PTP-EPSILON 3
  • R-PTP-Epsilon 4
  • HPTPE 3
  • PTPRE 5

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. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for PTPRE Gene

Genomics for PTPRE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTPRE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J127905 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 257.2 +1.3 1298 5 REST CTCF ZBTB7B ZNF217 RAD51 MBD2 ELF1 CTBP1 RAD21 CUX1 PTPRE ENSG00000227076 MKI67
GH10J128044 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 254.6 +141.4 141366 7.6 POLR2A CEBPA CTCF SIN3A ZNF341 FOXA2 KLF9 SP2 IRF4 EBF1 PTPRE HSALNG0081501 HSALNG0081502 lnc-MKI67-4 MKI67
GH10J127911 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 +4.6 4641 0.1 PTPRE ENSG00000227076 MKI67
GH10J127904 Enhancer 0.4 dbSUPER 250.7 -2.0 -1972 1.3 JUND ATF2 CREB1 ATF7 PTPRE CLRN3
GH10J127877 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.3 -21.8 -21814 16.9 JUND YY1 CTCF MAFF FOXA2 RXRA ZBTB33 GABPA SPI1 MYC HSALNG0081496-001 HSALNG0081496-002 CLRN3 PTPRE HSALNG0081495 FOXI2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPRE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTPRE

Top Transcription factor binding sites by QIAGEN in the PTPRE gene promoter:
  • Bach2
  • CBF(2)
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • Tal-1

Genomic Locations for PTPRE Gene

Latest Assembly
chr10:127,907,053-128,085,855
(GRCh38/hg38)
Size:
178,803 bases
Orientation:
Plus strand

Previous Assembly
chr10:129,705,367-129,884,119
(GRCh37/hg19 by Entrez Gene)
Size:
178,753 bases
Orientation:
Plus strand

chr10:129,705,325-129,884,119
(GRCh37/hg19 by Ensembl)
Size:
178,795 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};
    Miscellaneous:
    • [Isoform 1]: Produced by alternative promoter usage.
    • [Isoform 2]: Produced by alternative promoter usage.
    • [Isoform 3]: Produced by alternative initiation at Met-86 of isoform 1.

    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 Asn23 and Asn30
  • Modification sites at PhosphoSitePlus

Domains & Families for PTPRE Gene

Gene Families for PTPRE Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PTPRE Gene

Suggested Antigen Peptide Sequences for PTPRE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57799, highly similar to Receptor-type tyrosine-protein phosphatase epsilon (EC 3.1.3.48) (B4DRZ3_HUMAN)
  • Receptor-type tyrosine-protein phosphatase epsilon (PTPRE_HUMAN)
  • cDNA FLJ76898, highly similar to Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA (Q5VWH4_HUMAN)
  • Tyrosine phosphatase epsilon PD1 (Q8TE48_HUMAN)
  • PTPRE (Q96P81_HUMAN)

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

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 CatalyticActivity:
Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000255|PROSITE-ProRule:PRU10044};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by 12-O-tetradecanoylphorbol-13-acetate (TPA) in HL-60 cells.
GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor-type IV,epsilon polypeptide

Enzyme Numbers (IUBMB) for PTPRE Gene

Phenotypes From GWAS Catalog for PTPRE Gene

Gene Ontology (GO) - Molecular Function for PTPRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,IBA 21873635
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS 2170109
GO:0005515 protein binding IPI 10980613
GO:0016787 hydrolase 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
extracellular 1
mitochondrion 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTPRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10980613
GO:0005737 cytoplasm IEA,IDA 10980613
GO:0005886 plasma membrane IEA,IDA 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

PathCards logo

SuperPathways for PTPRE Gene

SuperPathway Contained pathways
1 PAK Pathway
.36
2 Signal transduction_Erk Interactions- Inhibition of Erk
-
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
  • Signal transduction_Erk Interactions- Inhibition of Erk
1 Qiagen pathway for PTPRE Gene
  • Epithelial Adherens Junctions

SIGNOR curated interactions for PTPRE Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PTPRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA,IBA 21873635
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0046627 negative regulation of insulin receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with PTPRE: view

Drugs & Compounds for PTPRE Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alendronate Approved Pharma Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 182
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Phosphate Experimental Pharma 0

(1) Additional Compounds for PTPRE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PTPRE: view

Transcripts for PTPRE Gene

mRNA/cDNA for PTPRE Gene

8 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for PTPRE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PTPRE Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Blood(2.5)
  • Bone marrow(2.3)
  • Lymph node(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with PTPRE: view

Primer products for research

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 29 30
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTPRE 29 30
  • 90.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTPRE 29 30
  • 88.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptpre 29 16 30
  • 86.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ptpre 29
  • 86.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia PTPRE 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTPRE 29 30
  • 77.47 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ptpre 29
  • 76.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii ptprea 29 30
  • 74.58 (n)
OneToMany
ptpreb 30
  • 73 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ptp52F 31
  • 43 (a)
Ptp69D 31
  • 34 (a)
Worm
(Caenorhabditis elegans)
Secernentea T28F4.3 31
  • 38 (a)
ZK616.7 31
  • 35 (a)
M04G7.2 31
  • 34 (a)
T27A3.5 31
  • 34 (a)
T22C1.8 31
  • 33 (a)
K07F5.8 31
  • 33 (a)
Y48G9A.9 31
  • 33 (a)
F47B3.1 31
  • 32 (a)
F47B3.6 31
  • 32 (a)
F55F8.7 31
  • 31 (a)
F25H5.7 31
  • 31 (a)
ptp-3 30
  • 12 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTP2 32
Species where no ortholog for PTPRE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRE: view image
Alliance of Genome Resources:
Additional Orthologs for PTPRE

Paralogs for PTPRE Gene

(29) SIMAP similar genes for PTPRE Gene using alignment to 10 proteins:

  • PTPRE_HUMAN
  • B4DRZ3_HUMAN
  • Q5VWH5_HUMAN
  • Q5VWH6_HUMAN
  • Q8TE48_HUMAN
  • Q96P81_HUMAN
  • S4R2Y5_HUMAN
  • S4R3B0_HUMAN
  • S4R3X3_HUMAN
  • S4R448_HUMAN
genes like me logo Genes that share paralogs with PTPRE: view

Variants for PTPRE Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTPRE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PTPRE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRE
Leiden Open Variation Database (LOVD)
PTPRE

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTPRE Gene

Disorders for PTPRE Gene

Additional Disease Information for PTPRE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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
  2. Identification of a cytoplasmic, phorbol ester-inducible isoform of protein tyrosine phosphatase epsilon. (PMID: 8618876) Elson A … Leder P (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22
  3. Assignment of the human protein tyrosine phosphatase epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization. (PMID: 8595895) van den Maagdenberg AM … Hendriks WJ (Genomics 1995) 2 3 22
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for PTPRE Gene

Sources for PTPRE Gene