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Aliases for PTPN2 Gene

Aliases for PTPN2 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 2 2 3 5
  • TCPTP 3 4
  • PTPT 3 4
  • Tyrosine-Protein Phosphatase Non-Receptor Type 2 3
  • T-Cell Protein Tyrosine Phosphatase 3
  • T-Cell Protein-Tyrosine Phosphatase 4
  • EC 3.1.3.48 4
  • TCELLPTP 3
  • TC-PTP 3
  • PTN2 3

External Ids for PTPN2 Gene

Previous HGNC Symbols for PTPN2 Gene

  • PTPT

Previous GeneCards Identifiers for PTPN2 Gene

  • GC18M012820
  • GC18M012775
  • GC18M012864
  • GC18M013248
  • GC18M013090
  • GC18M013095
  • GC18M013543
  • GC18M013839
  • GC18M014100
  • GC18M014396
  • GC18M014688
  • GC18M014949

Summaries for PTPN2 Gene

Entrez Gene Summary for PTPN2 Gene

  • The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]

GeneCards Summary for PTPN2 Gene

PTPN2 (Protein Tyrosine Phosphatase, Non-Receptor Type 2) is a Protein Coding gene. Diseases associated with PTPN2 include Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis and Oligoarticular Juvenile Idiopathic Arthritis. Among its related pathways are TNFR1 Pathway and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein kinase binding and integrin binding. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot for PTPN2 Gene

  • Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the development of the immune system. Functions in T-cell receptor signaling through dephosphorylation of FYN and LCK to control T-cells differentiation and activation. Dephosphorylates CSF1R, negatively regulating its downstream signaling and macrophage differentiation. Negatively regulates cytokine (IL2/interleukin-2 and interferon)-mediated signaling through dephosphorylation of the cytoplasmic kinases JAK1, JAK3 and their substrate STAT1, that propagate signaling downstream of the cytokine receptors. Also regulates the IL6/interleukin-6 and IL4/interleukin-4 cytokine signaling through dephosphorylation of STAT3 and STAT6 respectively. In addition to the immune system, it is involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, it dephosphorylates EGFR and negatively regulates EGF signaling. Dephosphorylates PDGFRB and negatively regulates platelet-derived growth factor receptor-beta signaling pathway and therefore cell proliferation. Negatively regulates tumor necrosis factor-mediated signaling downstream via MAPK through SRC dephosphorylation. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of the hepatocyte growth factor receptor MET. Plays also an important role in glucose homeostasis. For instance, negatively regulates the insulin receptor signaling pathway through the dephosphorylation of INSR and control gluconeogenesis and liver glucose production through negative regulation of the IL6 signaling pathways. May also bind DNA.

Gene Wiki entry for PTPN2 Gene

Additional gene information for PTPN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN2 Gene

Genomics for PTPN2 Gene

GeneHancer (GH) Regulatory Elements for PTPN2 Gene

Promoters and enhancers for PTPN2 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
GH18J012878 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.9 +46.9 46942 8.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 PTPN2 GC18P012884 PSMG2 CEP192 CEP76 LINC01882 ENSG00000267199 ENSG00000267480 GC18M015649 GC18M015277
GH18J012989 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 44.8 -61.5 -61512 3.7 YBX1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 NFYC CEP192 ENSG00000266969 PSMG2 PTPN2 PRELID3A CEP76 ENSG00000267249 ENSG00000267199 LINC01882 RNMT
GH18J011976 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 24.7 +949.3 949325 7.9 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 IMPA2 MPPE1 PTPN2 PSMG2 ENSG00000267249 GC18P012646
GH18J012700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.9 +227.1 227135 4.9 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B PSMG2 CEP76 CEP192 SPIRE1 PTPN2 MPPE1 PIR52927 GC18M015675
GH18J012946 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.2 -18.1 -18064 3.3 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 SEH1L CEP192 PSMG2 PTPN2 RNMT ENSG00000267249 GC18M015299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTPN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTPN2 gene promoter:
  • STAT5B
  • NF-kappaB1
  • NF-kappaB
  • RSRFC4

Genomic Locations for PTPN2 Gene

Genomic Locations for PTPN2 Gene
chr18:12,785,478-12,929,643
(GRCh38/hg38)
Size:
144,166 bases
Orientation:
Minus strand
chr18:12,785,477-12,929,642
(GRCh37/hg19)
Size:
144,166 bases
Orientation:
Minus strand

Genomic View for PTPN2 Gene

Genes around PTPN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN2 Gene

Proteins for PTPN2 Gene

  • Protein details for PTPN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17706-PTN2_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 2
    Protein Accession:
    P17706
    Secondary Accessions:
    • A8K955
    • A8MXU3
    • K7ENG3
    • Q96AU5
    • Q96HR2

    Protein attributes for PTPN2 Gene

    Size:
    415 amino acids
    Molecular mass:
    48473 Da
    Quaternary structure:
    • Interacts with RMDN3. Isoform 1 interacts with TMED9. Isoform 1 interacts with STX17; dephosphorylates STX17. Interacts with ITGA1 (via cytoplasmic domain); activates the phosphatase activity towards EGFR. Interacts with TRAF2; probably involved in tumor necrosis factor-mediated signaling. Interacts with MET.

    Three dimensional structures from OCA and Proteopedia for PTPN2 Gene

    Alternative splice isoforms for PTPN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPN2 Gene

Post-translational modifications for PTPN2 Gene

  • Isoform 2: Specifically phosphorylated in a cell cycle-dependent manner by cyclin-dependent kinases CDK1 and CDK2. Probably activated through phosphorylation by PKR.
  • Ubiquitination at posLast=336336 and posLast=6060
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PTPN2

No data available for DME Specific Peptides for PTPN2 Gene

Domains & Families for PTPN2 Gene

Gene Families for PTPN2 Gene

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

Graphical View of Domain Structure for InterPro Entry

P17706

UniProtKB/Swiss-Prot:

PTN2_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 1 subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 1 subfamily.
genes like me logo Genes that share domains with PTPN2: view

Function for PTPN2 Gene

Molecular function for PTPN2 Gene

UniProtKB/Swiss-Prot Function:
Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the development of the immune system. Functions in T-cell receptor signaling through dephosphorylation of FYN and LCK to control T-cells differentiation and activation. Dephosphorylates CSF1R, negatively regulating its downstream signaling and macrophage differentiation. Negatively regulates cytokine (IL2/interleukin-2 and interferon)-mediated signaling through dephosphorylation of the cytoplasmic kinases JAK1, JAK3 and their substrate STAT1, that propagate signaling downstream of the cytokine receptors. Also regulates the IL6/interleukin-6 and IL4/interleukin-4 cytokine signaling through dephosphorylation of STAT3 and STAT6 respectively. In addition to the immune system, it is involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth. Activated by the integrin ITGA1/ITGB1, it dephosphorylates EGFR and negatively regulates EGF signaling. Dephosphorylates PDGFRB and negatively regulates platelet-derived growth factor receptor-beta signaling pathway and therefore cell proliferation. Negatively regulates tumor necrosis factor-mediated signaling downstream via MAPK through SRC dephosphorylation. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of the hepatocyte growth factor receptor MET. Plays also an important role in glucose homeostasis. For instance, negatively regulates the insulin receptor signaling pathway through the dephosphorylation of INSR and control gluconeogenesis and liver glucose production through negative regulation of the IL6 signaling pathways. May also bind DNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.48 mM for p-nitrophenyl phosphate (at pH 6.5 and 25 degrees Celsius) {ECO:0000269 PubMed:11907034};
UniProtKB/Swiss-Prot Induction:
Up-regulated by IL4/interleukin-4 (at protein level).
GENATLAS Biochemistry:
protein tyrosine phosphatase,non receptor type 2,T-cell

Enzyme Numbers (IUBMB) for PTPN2 Gene

Phenotypes From GWAS Catalog for PTPN2 Gene

Gene Ontology (GO) - Molecular Function for PTPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,TAS --
GO:0004726 non-membrane spanning protein tyrosine phosphatase activity IEA --
GO:0005178 integrin binding IPI 15592458
GO:0005515 protein binding IPI 12907755
genes like me logo Genes that share ontologies with PTPN2: view
genes like me logo Genes that share phenotypes with PTPN2: view

Human Phenotype Ontology for PTPN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPN2 Gene

MGI Knock Outs for PTPN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPN2

Clone Products

  • Addgene plasmids for PTPN2

No data available for Transcription Factor Targets and HOMER Transcription for PTPN2 Gene

Localization for PTPN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN2 Gene

Isoform 1: Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Note=Targeted to the endoplasmic reticulum by its C-terminal hydrophobic region. {ECO:0000269 PubMed:7593185}.
Isoform 2: Nucleus. Cytoplasm. Cell membrane. Note=Predominantly localizes to chromatin (By similarity). Able to shuttle between the nucleus and the cytoplasm and to dephosphorylate plasma membrane receptors (PubMed:9488479). Recruited by activated ITGA1 at the plasma membrane. {ECO:0000250, ECO:0000269 PubMed:9488479}.

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 PTPN2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 10940933
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA,IDA 23006999
genes like me logo Genes that share ontologies with PTPN2: view

Pathways & Interactions for PTPN2 Gene

genes like me logo Genes that share pathways with PTPN2: view

SIGNOR curated interactions for PTPN2 Gene

Activates:
Inactivates:
Other effect:

Gene Ontology (GO) - Biological Process for PTPN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0008285 negative regulation of cell proliferation IMP 15592458
GO:0008286 insulin receptor signaling pathway ISS,IEA --
GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway IEA,ISS --
genes like me logo Genes that share ontologies with PTPN2: view

Drugs & Compounds for PTPN2 Gene

(8) Drugs for PTPN2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for PTPN2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PTPN2: view

Transcripts for PTPN2 Gene

mRNA/cDNA for PTPN2 Gene

Unigene Clusters for PTPN2 Gene

Protein tyrosine phosphatase, non-receptor type 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for PTPN2

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN2 Gene

No ASD Table

Relevant External Links for PTPN2 Gene

GeneLoc Exon Structure for
PTPN2
ECgene alternative splicing isoforms for
PTPN2

Expression for PTPN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPN2 Gene

Protein differential expression in normal tissues from HIPED for PTPN2 Gene

This gene is overexpressed in Breast (22.4), Cerebrospinal fluid (18.2), and Pancreatic juice (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTPN2 Gene



Protein tissue co-expression partners for PTPN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPN2 Gene:

PTPN2

SOURCE GeneReport for Unigene cluster for PTPN2 Gene:

Hs.654527

mRNA Expression by UniProt/SwissProt for PTPN2 Gene:

P17706-PTN2_HUMAN
Tissue specificity: Ubiquitously expressed. Isoform 2 is probably the major isoform. Isoform 1 is expressed in T-cells and in placenta.

Evidence on tissue expression from TISSUES for PTPN2 Gene

  • Blood(4.5)
  • Nervous system(4.5)
  • Liver(4.4)
  • Eye(4.2)
  • Skin(2.8)
  • Spleen(2.5)
  • Pancreas(2.4)
  • Intestine(2.3)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with PTPN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PTPN2 Gene

Orthologs for PTPN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPN2 34 33
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTPN2 34 33
  • 93.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpn2 16 34 33
  • 88.92 (n)
rat
(Rattus norvegicus)
Mammalia Ptpn2 33
  • 88.8 (n)
cow
(Bos Taurus)
Mammalia PTPN2 34 33
  • 87.05 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPN2 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPN2 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPN2 34 33
  • 77.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPN2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpn2 33
  • 68.8 (n)
zebrafish
(Danio rerio)
Actinopterygii ptpn2b 34 33
  • 66.58 (n)
OneToMany
ptpn2a 34
  • 60 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Ptp61F 34 35 33
  • 55.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005352 33
  • 53.64 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK484.7 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for PTPN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 PTPN2 Gene

ENSEMBL:
Gene Tree for PTPN2 (if available)
TreeFam:
Gene Tree for PTPN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPN2: view image

Paralogs for PTPN2 Gene

Paralogs for PTPN2 Gene

(27) SIMAP similar genes for PTPN2 Gene using alignment to 10 proteins:

  • PTN2_HUMAN
  • D3DUJ3_HUMAN
  • K7EIE9_HUMAN
  • K7EIY0_HUMAN
  • K7ELS9_HUMAN
  • K7ENG3_HUMAN
  • K7ENP9_HUMAN
  • K7EQG9_HUMAN
  • K7ER87_HUMAN
  • K7ERU1_HUMAN

Pseudogenes.org Pseudogenes for PTPN2 Gene

genes like me logo Genes that share paralogs with PTPN2: view

Variants for PTPN2 Gene

Sequence variations from dbSNP and Humsavar for PTPN2 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000031656 -- 12,858,726(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000057851 -- 12,792,505(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000116700 -- 12,874,819(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000163459 -- 12,883,694(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000173518 -- 12,844,752(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PTPN2 Gene

Variant ID Type Subtype PubMed ID
dgv1554n106 CNV deletion 24896259
esv2716815 CNV deletion 23290073
esv3172 CNV loss 18987735
esv3430518 CNV insertion 20981092
esv3555071 CNV deletion 23714750
nsv1063125 CNV loss 25217958
nsv1064273 CNV gain 25217958
nsv1070588 CNV deletion 25765185
nsv1071431 CNV deletion 25765185
nsv1113906 CNV deletion 24896259
nsv1145980 CNV deletion 26484159
nsv130834 CNV deletion 16902084
nsv131711 CNV insertion 16902084
nsv473633 CNV novel sequence insertion 20440878
nsv954953 CNV deletion 24416366

Variation tolerance for PTPN2 Gene

Residual Variation Intolerance Score: 78.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPN2 Gene

Human Gene Mutation Database (HGMD)
PTPN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN2 Gene

Disorders for PTPN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PTPN2 Gene - From: HGMD, Orphanet, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
rheumatoid factor-negative juvenile idiopathic arthritis
  • juvenile rheumatoid factor-negative polyarthritis
oligoarticular juvenile idiopathic arthritis
  • pauciarticular chronic arthritis
bubonic plague
  • black death
nail disorder, nonsyndromic congenital, 4
  • ndnc4
body mass index quantitative trait locus 11
  • bmiq11
- elite association - COSMIC cancer census association via MalaCards
Search PTPN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTPN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PTPN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPN2 Gene

Publications for PTPN2 Gene

  1. Regulation of the Met receptor-tyrosine kinase by the protein-tyrosine phosphatase 1B and T-cell phosphatase. (PMID: 18819921) Sangwan V … Park M (The Journal of biological chemistry 2008) 3 4 22 58
  2. T-cell protein tyrosine phosphatase, distinctively expressed in activated-B-cell-like diffuse large B-cell lymphomas, is the nuclear phosphatase of STAT6. (PMID: 17210636) Lu X … Lossos IS (Molecular and cellular biology 2007) 3 4 22 58
  3. Negative regulation of EGFR signalling through integrin-alpha1beta1-mediated activation of protein tyrosine phosphatase TCPTP. (PMID: 15592458) Mattila E … Ivaska J (Nature cell biology 2005) 3 4 22 58
  4. Selective regulation of tumor necrosis factor-induced Erk signaling by Src family kinases and the T cell protein tyrosine phosphatase. (PMID: 15696169) van Vliet C … Tiganis T (Nature immunology 2005) 3 4 22 58
  5. The T-cell protein tyrosine phosphatase is phosphorylated on Ser-304 by cyclin-dependent protein kinases in mitosis. (PMID: 15030318) Bukczynska P … Tiganis T (The Biochemical journal 2004) 3 4 22 58

Products for PTPN2 Gene

Sources for PTPN2 Gene

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