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PTPN22 Gene

protein-coding   GIFtS: 60

GC01M112214
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
(Previous names: protein tyrosine phosphatase, non-receptor type 8 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PTPN8)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)1 2     Lyp21
PTPN82 3 5     PEST-domain phosphatase2
protein tyrosine phosphatase, non-receptor type 81 2     OTTHUMP000000137212
Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP2 3     LYP12
Lymphoid phosphatase2 3     LYP22
LYP2 5     tyrosine-protein phosphatase non-receptor type 222
PEP2 5     lymphoid-specific protein tyrosine phosphatase2
Lyp1     EC 3.1.3.483
Lyp11     LyP3

External Ids:    HGNC: 96521   Entrez Gene: 261912   Ensembl: ENSG000001342427   UniProtKB: Q9Y2R23   

Export aliases for PTPN22 gene to outside databases

Previous GC identifers: GC01M114770 GC01M113238 GC01M113456 GC01M113655 GC01M114003 GC01M114157 GC01M114356


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PTPN22:
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The
encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein
CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene
may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus
erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been
described. (provided by RefSeq)

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2
Function: Seems to act on Cbl. May play a role in regulating the function of Cbl and its associated protein kinases.
Acts as negative regulator of T cell receptor (TCR) signaling. Dephosphorylates and inactivates the SRC family kinases

Gene Wiki entry for PTPN22

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPN22 gene promoter:
         NF-kappaB1   PPAR-gamma2   PPAR-gamma1   RSRFC4   NF-kappaB   MEF-2A   NF-AT4   NF-AT3   NF-AT2   NF-AT1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PTPN22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.2

PTPN22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN22 gene location

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M112214:  view genomic region     (about GC identifiers)

Start:
112,214,556 bp from pter
End:
112,272,493 bp from pter
Size:
57,938 bases
Orientation:
minus strand

1 alternative location:
Chr1- 114,356,433-114,414,381     
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 22  
Size: 807 amino acids; 91705 Da
Subcellular location: Cytoplasm (By similarity)
PDB structures from and Proteopedia :
2P6X (3D)    2QCJ (3D)    2QCT (3D)    3BRH (3D)    3H2X (3D)    
Secondary accessions: A0N0K6 B1ALC8 D4NZ71 O95063 O95064 Q6IPX8 Q8WVM1
Alternative splicing: 5 isoforms:  Q9Y2R2-1   Q9Y2R2-2   Q9Y2R2-3   Q9Y2R2-4   Q9Y2R2-5   

Explore the universe of human proteins at neXtProt for PTPN22: NX_Q9Y2R2 

Post-translational modifications:

  • Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_001180360.1  NP_036543.4  NP_057051.3  


    ENSEMBL proteins: 
    ENSP00000352833 ENSP00000388229 ENSP00000346621 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: PTPN22
    GenScript Custom Purified and Recombinant Proteins Services for PTPN22 
    Novus Biologicals Proteins for PTPN22
    Novus Biologicals Lysates for PTPN22
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    About this table

    PTPN22 for ontologies           About GeneDecksing



    Antibodies for PTPN22: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for PTPN22
    R&D Systems Antibodies for PTPN22 (Lyp)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for PTPN22 
    Novus Biologicals Antibodies for PTPN22
    Browse antibodies at Epitomics

    Assays for PTPN22: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PTPN22 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PTPN22 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PTPN22 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR016276 Non-rcpt_Tyr_Pase_8/22
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Dual-sp/Tyr_phosphatase

    Graphical View of Domain Structure for InterPro Entry Q9Y2R2

    ProtoNet protein and cluster: Q9Y2R2

    1 Blocks protein family: IPB000242 Protein tyrosine phosphatase signature

    UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2
    Function: Seems to act on Cbl. May play a role in regulating the function of Cbl and its associated protein kinases.
    Acts as negative regulator of T cell receptor (TCR) signaling. Dephosphorylates and inactivates the SRC family kinases
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Enzyme regulation: Down-regulated by phosphorylation
    Enzyme Number (IUBMB): EC 3.1.3.48 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PTPN22
    Sigma-Aldrich shRNA Panels and shRNA for PTPN22
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PTPN22
    OriGene shRNA RFP (see all 2): PTPN22
    OriGene basic RS shRNA (see all 2): PTPN22
    OriGene siRNA (see all 2): PTPN22
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PTPN22 
    miRNA:Sigma-Aldrich microRNA Mimics for PTPN22
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PTPN22 
    Search SABiosciences for Assays for microRNAs that regulate PTPN22

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PTPN22
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PTPN22
    OriGene untagged cDNA clones in CMV expression vector (see all 3): PTPN22
    OriGene 3'-UTR clone (see all 2): PTPN22 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PTPN22 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for PTPN22 

    Genatlas biochemistry entry for PTPN22:
    Protein tyrosine-phosphatase non receptor type 22,lymphoid-specific,involved in regulation of the function of
    protooncogene CBL

    4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725 protein tyrosine phosphatase activity IDA18056643
    GO:0005515 protein binding IPI16461343
    GO:0016787 hydrolase activity IEA--
    GO:0016791 phosphatase activity ----
    About this table

    PTPN22 for ontologies           About GeneDecksing

    Animal Models: 8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ptpn22):

    growth/sizehematopoietic systemhomeostasis/metabolismimmune systemlife span-post-weaning/aging
    liver/biliary systemrenal/urinary systemrespiratory system

    PTPN22 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    PTPN22 for pathways           About GeneDecksing

    1 Millipore Pathway for PTPN22
        Anandamide biosynthesis and metabolism

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  PTPN22
        CTLA4 Signaling in Cytotoxic T Lymphocytes

        SABiosciences Pathway-Focused PCR Array including PTPN22: PAHS-045A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PTPN22
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPN22

    5/11 Interacting proteins for PTPN22 (Q9Y2R21, 2) via UniProtKB, MINT, and/or STRING (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD247P209631EBI-1211241,EBI-1165705
    CDH2P190221EBI-1211241,EBI-2256711
    ERBB2P046261EBI-1211241,EBI-641062
    GHRP109121EBI-1211241,EBI-286316
    LCKP062391EBI-1211241,EBI-1348
    About this table

    5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470 protein dephosphorylation IEA--
    GO:0007165 signal transduction TAS10068674
    GO:0016311 dephosphorylation ----
    GO:0030217 T cell differentiation ----
    GO:0050852 T cell receptor signaling pathway ----
    About this table

    PTPN22 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    PTPN22 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTPN22
    3 Novoseek chemical compound relationships for PTPN22 gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 77.5 152 10068674 (2), 16461343 (2), 15531553 (2), 16015369 (2) (see all 86)
    arginine 0 2 15531553 (1), 16279843 (1)
    glutamate 0 2 19290936 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PTPN22
    Sigma-Aldrich shRNA Panels and shRNA for PTPN22
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): PTPN22
    OriGene shRNA RFP (see all 2): PTPN22
    OriGene basic RS shRNA (see all 2): PTPN22
    OriGene siRNA (see all 2): PTPN22
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PTPN22 
    miRNA: Sigma-Aldrich microRNA Mimics for PTPN22
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PTPN22 
    Search SABiosciences for Assays for microRNAs that regulate PTPN22
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PTPN22
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PTPN22
    OriGene untagged cDNA clones in CMV expression vector (see all 3): PTPN22
    OriGene 3'-UTR Clone (see all 2): PTPN22 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for PTPN22 
    Primers: OriGene genome-wide validated SYBR primer pairs: PTPN22
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PTPN22: PPH10382A

    REFSEQ mRNAs for PTPN22 gene (3 alternative transcripts): 

    NM_001193431.1  NM_012411.4  NM_015967.5  

    Additional cDNA sequence: 

    AF001846.1 AF077031.1 AK303124.1 AK310570.1 AK310698.1 BC017785.1 BC071670.1 GU479452.1 
    U69700.1 

    8 DOTS entries:

    DT.206623  DT.99981204  DT.207269  DT.91759255  DT.95365499  DT.86858234  DT.100747078  DT.99940287 

    24/50 AceView cDNA sequences (see all 50):

    AW504119 AA906845 AW576125 AA748329 BM458477 BX482744 AA298761 BX099228 
    NM_015967 AL597518 BC071670 BG498752 CD687350 AF001846 BG198463 AI016085 
    NM_012411 BG505436 AV705592 AF077031 BC017785 BG219901 BG536550 BU928431 

    highest scoring ESTs for PTPN22:

    AF001846 AA906845 AF077031 AF150732 AL597518 BC017785 BC071670 BE241812 BG498752 BM458477 

    Unigene Cluster for PTPN22:

    Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
    Hs.535276  [show with all ESTs]
    Unigene Representative Sequence: NM_015967


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PTPN22

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                          -                                                     -     -                                   -                                 
    SP2:                          -                                                                                               -                                 
    SP3:                          -                                                                                                                                 
    SP4:                          -                             -           -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP5:                                                                                                                                                            

    About this scheme

    ECgene alternative splicing isoforms for PTPN22
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359785(uc001eds.2 uc009wgq.2 uc010owo.1 uc001edt.2 uc009wgr.2 uc009wgs.2)
    ENST00000460620 ENST00000469077 ENST00000484147(uc001edu.2) ENST00000420377
    ENST00000354605

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    PTPN22 expression in normal and diseased human tissues

    1  / 2  / 3

    10 probe-sets matching PTPN22 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36808_at2, 3 U95-A 1 1.00 1.00 0.99 1.16 AF001846 1.00 1.00 1.00 1
    60604_at2, 3 U95-C 1 0.88 1.00 0.98 0.85 AA906845 0.80 1.00 0.91 1
    208010_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012411 0.60 1.00 0.82 1
    206060_s_at2, 3 U133-A 1 0.91 1.00 -- -- NM_015967 0.60 1.00 0.82 1
    236539_at2, 3 U133-B 1 0.64 1.00 -- -- AW665758 0.40 1.00 0.76 1
    208011_at2, 3 U133-A 1 0.46 1.00 -- -- NM_012411 0.60 1.00 0.82 1
    208010_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    206060_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    236539_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    208011_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    About this table

    PTPN22 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    PTPN22 gene expression
    PTPN22 gene electronic northern expression
    PTPN22 gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.535276

    Expression variation in blood from EXPOLDB for PTPN22

    UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2
    Tissue specificity: Predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and
    both mature B and T-cells

    Primers: OriGene genome-wide validated SYBR primer pairs: PTPN22
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for PTPN22: PPH10382A
        SABiosciences Expression via Pathway-Focused PCR Array including PTPN22: PAHS-045A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for PTPN22 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PTPN221   -- protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less 86.76(n)
    78.83(a)
    483124  XM_540240.2  XP_540240.2 
    chimpanzee
    (Pan troglodytes)
    PTPN221   -- protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less 99.75(n)
    99.5(a)
    457136  XM_513663.2  XP_513663.2 
    cow
    (Bos taurus)
    PTPN221   -- protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less 85.35(n)
    76.09(a)
    518992  XM_597200.3  XP_597200.3 
    rat
    (Rattus norvegicus)
    Ptpn221   -- protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less 78.78(n)
    69.79(a)
    295338  XM_215658.4  XP_215658.4 
    mouse
    (Mus musculus)
    Ptpn221 , 5 3 (45.52 cM)5
    protein tyrosine phosphatase, non-receptor type 22 (lymphoid) less1, 5 79.82(n)1
    71.68(a)1
    192601  NM_008979.11  NP_033005.11 
     AK1538125  AK1695595  (see all 7)
    About this table        Species with no ortholog for PTPN22

    ENSEMBL Gene Tree for PTPN22 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for PTPN22 gene
    PTPN142  PTPN212  PTPN182  PTPN122  

    PTPN22 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/38 NCBI SNPs in PTPN22 are shown (see all 38)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs12174121,2
    C,F,A,114357211(+) ATGTAA/GAAAAG 1 -- ut31 ese314Minor allele frequency- G:0.32NA EA MN WA 796
    rs24766011,2
    C,F,114377568(+) TGTCCA/C/G/
            
    TACAG
    4 R mis1 ref1 ese318NS EA NA WA 1336
    rs339966491,2
    C,114394689(+) TTTCCC/TGGATC 4 Q R mis1 ref10--------
    rs345904131,2
    C114397665(+) AGTTCA/GAGTTT 4 R X ref1 10--------
    rs347787591,2
    --114414324(+) CCTCC-/AAAAAG 2 -- ut510--------
    rs349100381,2
    --114357089(+) TCAAGA/TGCAGT 1 -- ut310--------
    rs359100941,2
    --114397102(-) TTGCTA/CAAAGA 4 L ref1 syn10--------
    rs413132961,2
    --114362225(+) AGTTAA/TTTGAC 2 N I ref1 mis10--------
    rs560483221,2
    C114372214(-) AGTAAC/GGTAAA 2 N K mis1 ref10--------
    rs561749461,2
    --114380666(+) AATTCA/GAAAGG 4 F syn1 ref10--------
    About this table

    HapMap Linkage Disequilibrium images for PTPN22 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PTPN22
         3 CNVs: 2322 3306 64644

    QIAGEN SeqTarget long-range PCR primers for resequencing PTPN22 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PTPN22 for disorders           About GeneDecksing

    OMIM: 600716   disorders: 222100  180300  152700  

    10/19 Novoseek disease relationships for PTPN22 gene (see all 19)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune diseases 82.8 88 18056643 (3), 16731003 (2), 16690758 (2), 20166877 (2) (see all 57)
    autoimmune thyroid disease 81.6 7 19343596 (1), 19090780 (1), 18687223 (1), 16052563 (1)
    autoimmunity 79.4 39 17237219 (2), 18981062 (2), 19210888 (2), 16731003 (1) (see all 27)
    hashimotos thyroiditis 76.3 2 15719322 (1), 16320352 (1)
    addisons disease 75.9 11 18710467 (2), 16273109 (1), 18301444 (1), 19209622 (1) (see all 5)
    graves disease 75.2 13 15531553 (2), 18578611 (2), 17729039 (1), 17608818 (1) (see all 7)
    rheumatoid arthritis 68.9 51 18466483 (3), 18466461 (2), 15641066 (2), 17661906 (2) (see all 32)
    lupus erythematosus systemic 62.5 20 18981062 (2), 15641066 (2), 17729039 (1), 17868256 (1) (see all 12)
    vitiligo 61.9 16 18426414 (2), 16015369 (2), 17729039 (1), 19209622 (1) (see all 6)
    genetic susceptibility 56.3 8 18301444 (2), 19503742 (1), 19343596 (1), 16164701 (1) (see all 6)
    About this table

    Human Gene Mutation Database (HGMD): PTPN22
    Genetic Association Database (GAD): PTPN22
    Human Genome Epidemiology (HuGE) Navigator: PTPN22 (251 documents)

    Export disorders and mutations for PTPN22 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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    10/316 PubMed articles for PTPN22 gene, integrated from 7 sources (see all 316):
    (articles sorted by number of sources associating them with PTPN22)
    1. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PubMed id 10068674)1, 2, 3, 7 Cohen S.... Roifman C.M. (1999)
    2. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. (PubMed id 15273934)1, 2, 4 Kyogoku C.... Behrens T.W. (2004)
    3. Structure, inhibitor, and regulatory mechanism of Lyp, a lymphoid- specific tyrosine phosphatase implicated in autoimmune diseases. (PubMed id 18056643)1, 2, 7 Yu X....Zhang Z.Y. (2007)
    4. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. (PubMed id 16052172)1, 4, 7 Reddy M.V....Alarcon-Riquelme M.E. (2005)
    5. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. (PubMed id 16175503)1, 4, 7 Carlton V.E....Begovich A.B. (2005)
    6. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. (PubMed id 16015369)1, 4, 7 Canton I....Kemp E.H. (2005)
    7. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. (PubMed id 15934099)1, 4, 7 Hinks A....Worthington J. (2005)
    8. Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. (PubMed id 15734872)1, 4, 7 Zheng W. and She J.X. (2005)
    9. The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. (PubMed id 15674368)1, 4, 7 Lee A.T....Gregersen P.K. (2005)
    10. A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease. (PubMed id 16164701)1, 4, 7 Wagenleiter S.E....Jagiello P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26191 HGNC: 9652 AceView: PTPN22 Ensembl:ENSG00000134242 euGenes: HUgn26191
    ECgene: PTPN22 H-InvDB: PTPN22

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for PTPN22 gene:
    Search GeneIP for patents involving PTPN22

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