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PTPN7 Gene

protein-coding   GIFtS: 67
GCID: GC01M202116

Protein Tyrosine Phosphatase, Non-Receptor Type 7

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 71 2     LC-PTP2
Hematopoietic Protein-Tyrosine Phosphatase2 3     LPTP2
Protein-Tyrosine Phosphatase LC-PTP2 3     PTPNI2
HEPTP2 3     Dual Specificity Phosphatase 12
EC 3.1.3.483 8     Protein-Tyrosine Phosphatase, Nonreceptor-Type, Stress Induced2
BPTP-42     Tyrosine-Protein Phosphatase Non-Receptor Type 72

External Ids:    HGNC: 96591   Entrez Gene: 57782   Ensembl: ENSG000001438517   OMIM: 1768895   UniProtKB: P352363   

Export aliases for PTPN7 gene to outside databases

Previous GC identifers: GC01M199800 GC01M197550 GC01M198582 GC01M199404 GC01M198847 GC01M200382 GC01M173282


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTPN7 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. This gene is preferentially expressed in a variety of hematopoietic
cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can
interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the
regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating
the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found
for this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for PTPN7 Gene:
PTPN7 (protein tyrosine phosphatase, non-receptor type 7) is a protein-coding gene. Diseases associated with PTPN7 include noonan syndrome, and b-cell lymphomas. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is PTPRQ.

UniProtKB/Swiss-Prot: PTN7_HUMAN, P35236
Function: Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the
regulation of T and B-lymphocyte development and signal transduction

Gene Wiki entry for PTPN7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPN7 gene promoter:
         E2F-3a   E2F-1   E2F   Olf-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPN7 promoter sequence
   Search Chromatin IP Primers for PTPN7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTPN7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

PTPN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M202116:  view genomic region     (about GC identifiers)

Start:
202,116,141 bp from pter      End:
202,130,716 bp from pter
Size:
14,576 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PTN7_HUMAN, P35236 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 7  
Size: 360 amino acids; 40529 Da
Subunit: Monomer. Interacts with MAPK1, MAPK3 and several other MAP kinases
Sequence caution: Sequence=AAA59531.1; Type=Frameshift; Positions=5;
Selected PDB 3D structures from and Proteopedia for PTPN7 (see all 13):
1ZC0 (3D)        2A3K (3D)        2GP0 (3D)        2GPH (3D)        2HVL (3D)        2QDC (3D)    
Secondary accessions: B3KXE1 Q53XK4 Q5SXQ0 Q5SXQ1 Q9BV05
Alternative splicing: 3 isoforms:  P35236-1   P35236-2   P35236-3   (Ref.4 (BAG54453) sequence is in conflict in position: 37:R->Q)

Explore the universe of human proteins at neXtProt for PTPN7: NX_P35236

Explore proteomics data for PTPN7 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine residues in resting T-cells. Phosphorylation increases upon exposure to stimuli that
    increase intracellular cAMP levels. Phosphorylation leads to dissociation of bound MAP kinases1
  • Oxidized at active site cysteine. Treatment with pervanadate (vanadate and H(2)O(2)) or with antigen enhanced
    oxidation of active site cysteine (By similarity)1
  • Ubiquitination2 at Lys103, Lys226, Lys248, Lys312
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PTPN7 (P35236) (see all 8)
     GRTGCFI  YIATQGP  PIVVHCS  LQERRGS 


    See PTPN7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186726.1  NP_002823.3  NP_542155.1  

    ENSEMBL proteins: 
     ENSP00000356248   ENSP00000309116   ENSP00000420506   ENSP00000419196   ENSP00000419523  
     ENSP00000419733   ENSP00000418416   ENSP00000418129   ENSP00000419993   ENSP00000418837  
     ENSP00000420434   ENSP00000406042   ENSP00000417350   ENSP00000417410   ENSP00000311133  
     ENSP00000444624   ENSP00000438272  

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    Cloud-Clone Corp. CLIAs for PTPN7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTPN: Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor

    4 InterPro protein domains:
     IPR016130 Tyr_Pase_AS
     IPR008356 Tyr_Pase_KIM-con
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry P35236

    ProtoNet protein and cluster: P35236

    1 Blocks protein domain: IPB000242 Protein tyrosine phosphatase signature

    UniProtKB/Swiss-Prot: PTN7_HUMAN, P35236
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPN7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTN7_HUMAN, P35236
    Function: Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the
    regulation of T and B-lymphocyte development and signal transduction
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Enzyme regulation: Inhibited in cells after FCER1A triggering (By similarity)

         Genatlas biochemistry entry for PTPN7:
    protein tyrosine phosphatase,non receptor type 7,stress-induced,expressed in hematopoietic cells

         Enzyme Number (IUBMB): EC 3.1.3.481 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IEA--
    GO:0005515protein binding IPI10415025
    GO:0016791phosphatase activity ----
         
    PTPN7 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for PTPN7:
     Decreased focal adhesion (FA)   Decreased mitotic index  Decreased viability with pacli  Increased apoptosis 
     Increased cell death in breast 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ptpn7):
     hematopoietic system  normal 

    PTPN7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ptpn7tm1Bwz for PTPN7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTPN7
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPN7

    miRNA
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    miRTarBase miRNAs that target PTPN7:
    hsa-mir-335-5p (MIRT018524), hsa-mir-126-5p (MIRT005728), hsa-mir-126-3p (MIRT005727)

    Block miRNA regulation of human, mouse, rat PTPN7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTPN7 (see all 12):
    hsa-miR-4303 hsa-miR-875-3p hsa-miR-642a hsa-miR-1236 hsa-miR-650 hsa-miR-3922-3p hsa-miR-4261 hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmidPTPN7 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTN7_HUMAN, P35236: Cytoplasm. Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    cytoskeleton2
    mitochondrion2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10940933
    GO:0005829cytosol IDA10940933
    GO:0005856cytoskeleton IEA--
    GO:0009898cytoplasmic side of plasma membrane IDA10940933

    PTPN7 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PTPN7 About    
    See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Downstream signaling in naive CD8+ T cells
    Downstream signaling in naive CD8+ T cells
    Ras signaling in the CD4+ TCR pathway0.00
    3PAK Pathway
    Epithelial Adherens Junctions0.36
    4Signal transduction Erk Interactions Inhibition of Erk
    Signal transduction Erk Interactions Inhibition of Erk

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PTPN7
        Epithelial Adherens Junctions

    1 GeneGo (Thomson Reuters) Pathway for PTPN7
        Signal transduction Erk Interactions- Inhibition of Erk

    3 BioSystems Pathways for PTPN7
        MAPK signaling pathway
    Ras signaling in the CD4+ TCR pathway
    Downstream signaling in naive CD8+ T cells


    1 Kegg Pathway  (Kegg details for PTPN7):
        MAPK signaling pathway


    PTPN7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PTPN7: 
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTPN7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PTPN7 (P352361, 2, 3 ENSP000003562484) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK1P284821, 2, 3, ENSP000002158324EBI-2265723,EBI-959949 MINT-8208655 MINT-8208672 MINT-8208589 MINT-8208635 I2D: score=5 STRING: ENSP00000215832
    MAPK14Q165392, 3, ENSP000002297944MINT-8208647 I2D: score=4 STRING: ENSP00000229794
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    CDH2P190223, ENSP000002691414I2D: score=1 STRING: ENSP00000269141
    MAPK3P273613, ENSP000002630254I2D: score=4 STRING: ENSP00000263025
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS1530918
    GO:0016311dephosphorylation ----
    GO:0035335peptidyl-tyrosine dephosphorylation TAS1530918

    PTPN7 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PTPN7 (PTN7)

    3 HMDB Compounds for PTPN7    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for PTPN7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 58.6 13 8307155 (2), 8309248 (2), 12583813 (2), 10559944 (2) (see all 8)



    PTPN7 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PTPN7 gene (4 alternative transcripts): 
    NM_001199797.1  NM_002832.3  NM_080588.2  NM_080589.1  

    Unigene Cluster for PTPN7:

    Protein tyrosine phosphatase, non-receptor type 7
    Hs.402773  [show with all ESTs]
    Unigene Representative Sequence: NM_002832
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000367279(uc001gxl.2) ENST00000309017(uc001gxm.2 uc010ppx.2 uc010ppw.2 uc001gxn.2 uc010ppy.2)
    ENST00000495688 ENST00000462815 ENST00000496197 ENST00000480836 ENST00000477554
    ENST00000492977(uc001gxo.1) ENST00000477625 ENST00000479092 ENST00000476061
    ENST00000467283 ENST00000464870 ENST00000435759 ENST00000486116 ENST00000491584
    ENST00000492451 ENST00000468385
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    hsa-miR-4303 hsa-miR-875-3p hsa-miR-642a hsa-miR-1236 hsa-miR-650 hsa-miR-3922-3p hsa-miR-4261 hsa-miR-4323
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    Additional mRNA sequence: 

    AF394064.1 AK127214.1 AK225920.1 AK293186.1 AK301051.1 AK302869.1 BC001746.1 BT009848.1 
    M64322.1 NR_037663.1 NR_037664.1 S78090.1 

    11 DOTS entries:

    DT.91752116  DT.100778903  DT.452064  DT.100778906  DT.100756430  DT.91752114  DT.97768163  DT.100758551 
    DT.121353771  DT.121353945  DT.91659935 

    Selected AceView cDNA sequences (see all 108):

    AA814901 BG391369 BQ232503 AL558168 AL557300 BC001746 AL706054 NM_080588 
    AL040067 BX281155 BM469406 BI908818 NM_002832 BQ708556 NM_080589 BX340745 
    BE270012 AA355551 AK127214 BI821102 BF895569 BQ004690 AI075025 F00211 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PTPN7 (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -                 -     -     -                 -                                                                                 
    SP2:              -                 -     -     -                 -                                                                                 
    SP3:                                -     -     -                 -                                                                                 
    SP4:              -                 -     -     -                 -                                                                                 
    SP5:              -     -           -     -     -                 -                                                                                 


    ECgene alternative splicing isoforms for PTPN7

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PTPN7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGCTCGGC
    PTPN7 Expression
    About this image


    PTPN7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thymus (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    PTPN7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPN7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.402773

    UniProtKB/Swiss-Prot: PTN7_HUMAN, P35236
    Tissue specificity: Expressed exclusively in thymus and spleen

        Pathway & Disease-focused RT2 Profiler PCR Array including PTPN7: 
              Protein Phosphatases in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PTPN7 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpn71 , 5 protein tyrosine phosphatase, non-receptor type 71, 5 88.95(n)1
    92.48(a)1
      1 (58.24 cM)5
    3201391  NM_177081.31  NP_796055.11 
     1351327255 
    chicken
    (Gallus gallus)
    Aves PTPN71 protein tyrosine phosphatase, non-receptor type 7 70.32(n)
    68.82(a)
      770905  XM_004934821.1  XP_004934878.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPN76
    protein tyrosine phosphatase, non-receptor type 7
    62(a)
    1 ↔ 1
    4(132632647-132662267)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423276
    --
    9(a)
    1 → many
    3R(7481875-7499697)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PTP16
    Phosphotyrosine-specific protein phosphatase that ...
    28(a)
    1 → many
    IV(42700-43707) YDL230W


    ENSEMBL Gene Tree for PTPN7 (if available)
    TreeFam Gene Tree for PTPN7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPN7 gene
    PTPRQ2  PTPRJ2  PTPRH2  PTPN52  PTPRB2  PTPRO2  PTPRR2  
    Selected SIMAP similar genes for PTPN7 using alignment to 14 protein entries:     PTN7_HUMAN (see all proteins) (see all similar genes):
    DKFZp781C1038    DKFZp686K0257    PTPRR    PTPN5    DKFZp686C2268    DKFZp686B1310
    LAR    PTPRC    PTPRK    PTPRF    PTPRO    PTPRA
    PTPsigma    PTPRE    PTPRB    PTPN6    PTPRQ    PTPRD

    PTPN7 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTPN7 (see all 449)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1897621601,2
    --202115918(+) TTTACA/GGTAGT 5 -- ds50010--------
    rs109203361,2
    C,F,A,H--202115945(+) GCCTGA/GGTAGG 5 -- ds500122Minor allele frequency- G:0.42NS EA NA WA CSA 2347
    rs90771,2
    C,F,A,H--202116238(-) CCTCCC/TTGGCA 5 -- nc-transcript-variantut31 ese311Minor allele frequency- T:0.10MN EA NS NA 2490
    rs1458197801,2
    --202116242(+) AGGGAA/GGGCCT 5 -- nc-transcript-variantut310--------
    rs1821831561,2
    --202116324(+) CCACCA/GAGCCT 5 -- nc-transcript-variantut310--------
    rs1871914631,2
    C--202116565(+) TATCAA/CGGCAG 5 -- nc-transcript-variantut310--------
    rs1926433721,2
    --202116598(+) TGATGC/TGGCAT 5 -- nc-transcript-variantut310--------
    rs1831263131,2
    --202116599(+) GATGCA/GGCATC 5 -- nc-transcript-variantut310--------
    rs1154778161,2
    C,F--202116655(+) AGGAGG/AAGGAA 5 -- nc-transcript-variantut311Minor allele frequency- A:0.04WA 118
    rs1170978661,2
    F--202116682(+) TCAGTC/TCTGAG 5 -- nc-transcript-variantut311Minor allele frequency- T:0.01EA 120

    HapMap Linkage Disequilibrium report for PTPN7 (202116141 - 202130716 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTPN7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873103CNV Loss21882294
    nsv467972CNV Loss19166990
    nsv522841CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176889    OMIM disorders: --

    7 diseases for PTPN7:    
    About MalaCards
    noonan syndrome    b-cell lymphomas    tonsillitis    cerebritis
    leukemia    thyroiditis    breast cancer


    PTPN7 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: PTPN7 (1 document)

    Export disorders for PTPN7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PTPN7 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with PTPN7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal mapping of a human protein-tyrosine phosphatase LC-PTP. (PubMed id 1510684)1, 2, 3, 9 Adachi M.... Yachi A. (Biochem. Biophys. Res. Commun. 1992)
    2. Structure of the hematopoietic tyrosine phosphatase (HePTP) catalytic domain: structure of a KIM phosphatase with phosphate bound at the active site. (PubMed id 16226275)1, 2, 9 Mustelin T.... Page R. (J. Mol. Biol. 2005)
    3. Negative regulation of T cell antigen receptor signal transduction by hematopoietic tyrosine phosphatase (HePTP). (PubMed id 9624114)1, 2, 9 Saxena M.... Mustelin T. (J. Biol. Chem. 1998)
    4. Inhibition of T cell signaling by mitogen-activated protein kinase- targeted hematopoietic tyrosine phosphatase (HePTP). (PubMed id 10206983)1, 2, 9 Saxena M.... Mustelin T. (J. Biol. Chem. 1999)
    5. Crosstalk between cAMP-dependent kinase and MAP kinase through a protein tyrosine phosphatase. (PubMed id 10559944)1, 2, 9 Saxena M.... Mustelin T. (Nat. Cell Biol. 1999)
    6. Crystal structures and inhibitor identification for PTPN5, PTPRR and PTPN7: a family of human MAPK-specific protein tyrosine phosphatases. (PubMed id 16441242)1, 2 Eswaran J.... Barr A.J. (Biochem. J. 2006)
    7. Haematopoietic protein tyrosine phosphatase (HePTP) phosphorylation by cAMP-dependent protein kinase in T-cells: dynamics and subcellular location. (PubMed id 14613483)1, 2 Nika K.... Mustelin T. (Biochem. J. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The MAP-kinase ERK2 is a specific substrate of the protein tyrosine phosphatase HePTP. (PubMed id 10702794)1, 2 Pettiford S.M. and Herbst R. (Oncogene 2000)
    10. Cloning and expression of an inducible lymphoid-specific, protein tyrosine phosphatase (HePTPase). (PubMed id 1530918)1, 2 Zanke B....Mak T.W. (Eur. J. Immunol. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5778 HGNC: 9659 AceView: PTPN7 Ensembl:ENSG00000143851 euGenes: HUgn5778
    ECgene: PTPN7 Kegg: 5778 H-InvDB: PTPN7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PTPN7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPN7 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PTPN7 gene:
    Search GeneIP for patents involving PTPN7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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