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PTPN23 Gene

protein-coding   GIFtS: 61
GCID: GC03P047397

Protein Tyrosine Phosphatase, Non-Receptor Type 23

  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 231 2     EC 3.1.3.483 8
His Domain-Containing Protein Tyrosine Phosphatase2 3     HDPTP2 5
Protein Tyrosine Phosphatase TD142 3     KIAA14713 5
HD-PTP2 3     His-Domain Protein Tyrosine Phosphatase2
PTP-TD142 3     Tyrosine-Protein Phosphatase Non-Receptor Type 232

External Ids:    HGNC: 144061   Entrez Gene: 259302   Ensembl: ENSG000000762017   OMIM: 6065845   UniProtKB: Q9H3S73   

Export aliases for PTPN23 gene to outside databases

Previous GC identifers: GC03P047211 GC03P046642 GC03P047383 GC03P047343


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PTPN23 Gene:
PTPN23 (protein tyrosine phosphatase, non-receptor type 23) is a protein-coding gene. Diseases associated with PTPN23 include bladder carcinoma, and endotheliitis. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is PDCD6IP.

UniProtKB/Swiss-Prot: PTN23_HUMAN, Q9H3S7
Function: Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its
interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also
other ESCRT complexes. May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in
ciliogenesis

Gene Wiki entry for PTPN23 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_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPN23 gene promoter:
         HOXA9B   HOXA9   AML1a   POU3F1   GATA-2   Meis-1b   C/EBPalpha   Chx10   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPN23 promoter sequence
   Search Chromatin IP Primers for PTPN23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTPN23


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

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3

PTPN23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN23 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P047397:  view genomic region     (about GC identifiers)

Start:
47,422,491 bp from pter      End:
47,454,931 bp from pter
Size:
32,441 bases      Orientation:
plus 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: PTN23_HUMAN, Q9H3S7 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 23  
Size: 1636 amino acids; 178974 Da
Subunit: Interacts with GRAP2 and GRB2. Interacts with UBAP1 and CHMP4B
Sequence caution: Sequence=BAA95995.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for PTPN23:
3RAU (3D)    
Secondary accessions: A8K0D7 Q7KZF8 Q8N6Z5 Q9BSR5 Q9P257 Q9UG03 Q9UMZ4

Explore the universe of human proteins at neXtProt for PTPN23: NX_Q9H3S7

Explore proteomics data for PTPN23 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys32, Lys279, Lys285, Lys288, Lys1635
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PTPN23 (Q9H3S7)
     PIIVHCS  PYDSNRV 


    See PTPN23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056281.1  
    ENSEMBL proteins: 
     ENSP00000473266   ENSP00000396328   ENSP00000265562   ENSP00000387825  

    PTPN23 Human Recombinant Protein Products:

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    Novus Biologicals PTPN23 Protein
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    Cloud-Clone Corp. Proteins for PTPN23

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    Cloud-Clone Corp. CLIAs for PTPN23


    (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

    Selected InterPro protein domains (see all 6):
     IPR004328 BRO1_dom
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase
     IPR028770 PTPN23

    Graphical View of Domain Structure for InterPro Entry Q9H3S7

    ProtoNet protein and cluster: Q9H3S7

    2 Blocks protein domains:
    IPB000242 Protein tyrosine phosphatase signature
    IPB004328 BRO1-like domain


    UniProtKB/Swiss-Prot: PTN23_HUMAN, Q9H3S7
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily
    Similarity: Contains 1 BRO1 domain
    Similarity: Contains 2 TPR repeats
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPN23 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: PTN23_HUMAN, Q9H3S7
    Function: Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its
    interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also
    other ESCRT complexes. May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in
    ciliogenesis
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         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 IPI17174262
    GO:0016791phosphatase activity ----
         
    PTPN23 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for PTPN23:
     Decreased cilium length after   Increased apoptosis  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 
     Upregulation of NF-kappaB path  Upregulation of Wnt/beta-caten 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ptpn23):
     embryogenesis  growth/size/body  mortality/aging 

    PTPN23 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTPN23
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    miRNA
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    miRTarBase miRNAs that target PTPN23:
    hsa-mir-20a-5p (MIRT050524), hsa-let-7b-5p (MIRT051946), hsa-mir-148a-3p (MIRT048027)

    Block miRNA regulation of human, mouse, rat PTPN23 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate PTPN23:
    hsa-miR-142-3p hsa-miR-548p hsa-miR-1276 hsa-miR-589* hsa-miR-3160-3p hsa-miR-3714 hsa-miR-4280
    SwitchGear 3'UTR luciferase reporter plasmidPTPN23 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PTPN23

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    GenScript: all cDNA clones in your preferred vector: PTPN23 (NM_015466)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN23

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN23


    (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
    PTN23_HUMAN, Q9H3S7: Nucleus. Cytoplasm. Cytoplasmic vesicle. Endosome. Cytoplasm, cytoskeleton, cilium basal
    body. Early endosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endosome5
    nucleus5
    cytosol2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IDA--
    GO:0005769early endosome IDA--

    PTPN23 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 PTPN23 About    
    See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    Epithelial Adherens Junctions0.36

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PTPN23
        Epithelial Adherens Junctions


        Pathway & Disease-focused RT2 Profiler PCR Array including PTPN23: 
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTPN23

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

    Selected Interacting proteins for PTPN23 (Q9H3S71, 2, 3 ENSP000002655624) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHMP4BQ9H4441, 2, ENSP000002174024EBI-724478,EBI-749627 MINT-8311886 MINT-8311224 STRING: ENSP00000217402
    PDCD6O753401, 2EBI-724478,EBI-352915 MINT-8311919 MINT-8311260 MINT-8311251
    TSG101Q998161, 2, ENSP000002519684EBI-724478,EBI-346882 MINT-8311910 MINT-8311233 STRING: ENSP00000251968
    DDX24Q9GZR72, 3MINT-65422 I2D: score=4 
    PTK2Q053971, 2, ENSP000003411894EBI-724478,EBI-702142 MINT-8311208 MINT-8312611 MINT-8310581 MINT-8310729 MINT-8311863 STRING: ENSP00000341189
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation ----
    GO:0015031protein transport IEA--
    GO:0016311dephosphorylation ----
    GO:0030334regulation of cell migration IEA--
    GO:0043162ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IMP--

    PTPN23 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 PTPN23 (PTN23)

    2 HMDB Compounds for PTPN23    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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 PTPN23 gene: 
    NM_015466.2  

    Unigene Cluster for PTPN23:

    Protein tyrosine phosphatase, non-receptor type 23
    Hs.25524  [show with all ESTs]
    Unigene Representative Sequence: NM_015466
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602307 ENST00000456221 ENST00000265562(uc011baw.1 uc003crf.1 uc011bax.1)
    ENST00000462998 ENST00000477276 ENST00000495653 ENST00000431726(uc011bay.1)

    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate PTPN23:
    hsa-miR-142-3p hsa-miR-548p hsa-miR-1276 hsa-miR-589* hsa-miR-3160-3p hsa-miR-3714 hsa-miR-4280
    SwitchGear 3'UTR luciferase reporter plasmidPTPN23 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PTPN23
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN23
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PTPN23
      QuantiTect SYBR Green Assays in human, mouse, rat PTPN23
      QuantiFast Probe-based Assays in human, mouse, rat PTPN23

    Additional mRNA sequence: 

    AB025194.1 AB040904.2 AF169350.1 AF290614.1 AK055157.1 AK289502.1 AK295877.1 AK295888.1 
    AK299906.1 AL110210.1 BC004881.2 BC020380.1 BC027711.2 BC089042.1 BT009758.1 

    10 DOTS entries:

    DT.445977  DT.86847086  DT.100774950  DT.100751671  DT.75147326  DT.91745993  DT.92433008  DT.97805843 
    DT.97844804  DT.101974893 

    Selected AceView cDNA sequences (see all 211):

    AI431510 AA513385 AW297608 AJ711487 BU157484 BF064092 BU838727 BU188440 
    BM928648 AA587691 AI539197 AW137221 BM707858 BQ776967 BE463860 BQ645368 
    BG819798 AI363324 BC004881 AB040904 BU169092 BQ643574 AW293487 BF026905 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PTPN23    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                    -                                         -                                                                                             
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for PTPN23

    (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)
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    PTPN23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCACCTGCC
    PTPN23 Expression
    About this image


    PTPN23 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
     
     Hair (Integumentary System)
             Hair Follicle
     
     Eye (Sensory Organs)
             Optic Vesicle
     
     Neural Tube (Nervous System)
             Metencephalon
    PTPN23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPN23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25524
        Pathway & Disease-focused RT2 Profiler PCR Array including PTPN23: 
              Protein Phosphatases in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PTPN23
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PTPN23
    QuantiTect SYBR Green Assays in human, mouse, rat PTPN23
    QuantiFast Probe-based Assays in human, mouse, rat PTPN23
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN23

    (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 PTPN23 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpn231 , 5 protein tyrosine phosphatase, non-receptor type 231, 5 85.67(n)1
    90.99(a)1
      9 (59.92 cM)5
    1048311  NM_001081043.11  NP_001074512.11 
     1103850895 
    chicken
    (Gallus gallus)
    Aves PTPN231 protein tyrosine phosphatase, non-receptor type 23 80.13(n)
    84.79(a)
      100858513  XM_003640670.2  XP_003640718.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    86(a)
    61(a)
    1 ↔ many
    1 ↔ many
    GL344883.1(21-12147)
    GL343991.1(395-29882)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ625337.12   -- 74.65(n)    BJ625337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.130342 Transcribed sequence with moderate similarity to protein more 73.31(n)    BI881152.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG93113 protein amino acid dephosphorylation
    protein tyrosine more
    39(a)   70F5   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y53H1C.23   -- 28(a)   I(11409051-11424475)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RIM206
    Protein involved in proteolytic activation of Rim1...
    21(a)
    1 → many
    XV(839084-841069) YOR275C


    ENSEMBL Gene Tree for PTPN23 (if available)
    TreeFam Gene Tree for PTPN23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPN23 gene
    PDCD6IP2  RHPN22  RHPN12  
    7 SIMAP similar genes for PTPN23 using alignment to 4 protein entries:     PTN23_HUMAN (see all proteins):
    DKFZp781C1038    PTPN4    PTPN5    BPTP-3    PTPN7    DKFZp761A0712
    PTN2

    PTPN23 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 PTPN23 (see all 778)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1495635141,2,,4
    C,FA lung cancer cell line4 --47452583(+) TACCCC/TCTCGC 2 P S mis12Minor allele frequency- T:0.01NA EU 2643
    rs1461786811,2
    C,Funtested147453061(+) CCCCCC/TGCTAG 2 P L mis11Minor allele frequency- T:0.00NA 4530
    rs1497211031,2
    C--47420605(+) TTATTA/CATGCA 1 -- us2k10--------
    rs1865383901,2
    --47420619(+) ATCCAC/TCACTG 1 -- us2k10--------
    rs1455400011,2
    --47420622(+) CATCAC/TTGCAT 1 -- us2k10--------
    rs130752331,2
    C,F,H--47420627(+) ctgcaT/Cggatt 1 -- us2k121Minor allele frequency- C:0.45NS EA NA WA CSA 2348
    rs1129814751,2
    C,F--47420667(+) CTGCTG/ATGAAC 1 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs1162656211,2
    C,F--47420741(+) AGTCTT/CGAAAG 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs126389201,2
    C,F,H--47420769(+) CAAAGG/TGACCT 1 -- us2k1 tfbs35Minor allele frequency- T:0.00NS EA NA 420
    rs1433120641,2
    --47420812(+) AATCCC/GAGATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PTPN23 (47422491 - 47454931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PTPN23:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3804CNV Insertion18451855
    nsv3803CNV Insertion18451855
    nsv3802CNV Loss18451855
    nsv428417CNV Loss18775914
    nsv876756CNV Gain21882294

    1 Site Specific Mutation Identification with PCR Assay for PTPN23:
    Cosmic IdAA Change
    107364p.P1258L
    SeqTarget long-range PCR primers for resequencing PTPN23
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPN23

    (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: 606584    OMIM disorders: --

    4 diseases for PTPN23:    
    About MalaCards
    bladder carcinoma    endotheliitis    hiv-1    malaria


    PTPN23 for disorders           About GeneDecksing


    Export disorders for PTPN23 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 PTPN23 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with PTPN23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HD-PTP: a novel protein tyrosine phosphatase gene on human chromosome 3p21.3. (PubMed id 11095967)1, 2, 3, 9 Toyooka S.... Shimizu K. (Biochem. Biophys. Res. Commun. 2000)
    2. Histidine domain-protein tyrosine phosphatase interacts with Grb2 and GrpL. (PubMed id 21179510)1, 2 Tanase C.A. (PLoS ONE 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    6. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Divergent Bro1 domains share the capacity to bind human immunodeficiency virus type 1 nucleocapsid and to enhance virus-like particle production. (PubMed id 19403673)1, 9 Popov S....GAPttlinger H.G. (J. Virol. 2009)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Recruitment of UBPY and ESCRT exchange drive HD-PTP-dependent sorting of EGFR to the MVB. (PubMed id 23477725)1 Ali N....Woodman P. (Curr. Biol. 2013)
    10. Tumor-suppressive function of protein-tyrosine phosphatase non-receptor type 23 in testicular germ cell tumors is lost upon overexpression of miR142-3p microRNA. (PubMed id 23843459)1 Tanaka K....Hara T. (J. Biol. Chem. 2013)

    (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: 25930 HGNC: 14406 AceView: PTPN23 Ensembl:ENSG00000076201 euGenes: HUgn25930
    ECgene: PTPN23 H-InvDB: PTPN23

    (According to HUGE)
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    HUGE: KIAA1471

    (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 PTPN23 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPN23 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 PTPN23 gene:
    Search GeneIP for patents involving PTPN23

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



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