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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTPN22 Gene

protein-coding   GIFtS: 64
GCID: GC01M114356

Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)

(Previous names: protein tyrosine phosphatase, non-receptor type 8)
(Previous symbol: PTPN8)
  See related diseases
at
MalaCards
 

Aliases
for PTPN22 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)1 2     LYP2 5
PTPN81 2 3 5     LYP12
PEP2 3 5     LYP22
Protein Tyrosine Phosphatase, Non-Receptor Type 81 2     Lymphoid-Specific Protein Tyrosine Phosphatase2
Hematopoietic Cell Protein-Tyrosine Phosphatase 70Z-PEP2 3     Tyrosine-Protein Phosphatase Non-Receptor Type 222
Lymphoid Phosphatase2 3     EC 3.1.3.483
PEST-Domain Phosphatase2 3     LyP3

External Ids:    HGNC: 96521   Entrez Gene: 261912   Ensembl: ENSG000001342427   OMIM: 6007165   UniProtKB: Q9Y2R23   

Export aliases for PTPN22 gene to outside databases

Previous GC identifers: GC01M114770 GC01M113238 GC01M113456 GC01M113655 GC01M114003 GC01M114157 GC01M112214


Summaries
for PTPN22 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PTPN22 Gene:
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, Mar 2009)

GeneCards Summary for PTPN22 Gene: 
PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid)) is a protein-coding gene. Diseases associated with PTPN22 include type 1 diabetes, and systemic lupus erythematosus, and among its related super-pathways are PAK Pathway and D-myo-inositol-5-phosphate metabolism. GO annotations related to this gene include kinase binding and SH3 domain binding. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2
Function: Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src
family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling
molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394'
residue. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator
SKAP2

Gene Wiki entry for PTPN22 Gene


Genomic Views
for PTPN22 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPN22 gene promoter:
         PPAR-gamma1   AML1a   GATA-3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PTPN22 promoter sequence
   Search SABiosciences Chromatin IP Primers for PTPN22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPN22


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 information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M114356:  view genomic region     (about GC identifiers)

Start:
 114,356,433 bp from pter      End:
 114,414,381 bp from pter
Size:
 57,949 bases      Orientation:
 minus strand

Proteins
for PTPN22 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
Subunit: Interacts with CSK. Interacts with LPXN (By similarity). Interacts with CBL
Subcellular location: Cytoplasm (By similarity)
6/7 PDB 3D structures from and Proteopedia for PTPN22 (see all 7):
2P6X (3D)        2QCJ (3D)        2QCT (3D)        3BRH (3D)        3H2X (3D)        3OLR (3D)    
Secondary accessions: A0N0K6 B1ALC8 D4NZ71 E9PPI1 O95063 O95064 Q6IPX8 Q8WVM1
Alternative splicing: 6 isoforms:  Q9Y2R2-1   Q9Y2R2-2   Q9Y2R2-3   Q9Y2R2-4   Q9Y2R2-5   Q9Y2R2-6   (Lacks most of the phosphatase domain and functions as a dominant negative isoform of the full length PTPN22)

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

Explore proteomics data for PTPN22 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family
    kinases
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2R2

    • PTPN22 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTPN22 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001180360.1  NP_036543.4  NP_057051.3  

    ENSEMBL proteins: 
     ENSP00000433141   ENSP00000352833   ENSP00000435176   ENSP00000431249   ENSP00000388229  
     ENSP00000432674   ENSP00000434932   ENSP00000439372  

    Human Recombinant Protein Products for PTPN22: 
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    OriGene Protein Over-expression Lysate for PTPN22
    OriGene Custom MassSpec 
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    Novus Biologicals PTPN22 Proteins
    Novus Biologicals PTPN22 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTPN22 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10940933
    GO:0005737cytoplasm TAS--
    GO:0009898internal side of plasma membrane IDA10940933
    GO:0048471perinuclear region of cytoplasm IDA10068674

    PTPN22 for ontologies           About GeneDecksing



    PTPN22 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PTPN22 

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    Cloud-Clone Corp. ELISAs for PTPN22 
    Cloud-Clone Corp. CLIAs for PTPN22

    Protein Domains /
    Families
    for PTPN22 gene

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

    4 InterPro protein domains:
     IPR016276 Non-rcpt_Tyr_Pase_8/22
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q9Y2R2

    ProtoNet protein and cluster: Q9Y2R2

    1 Blocks protein domain: 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


    PTPN22 for domains           About GeneDecksing


    Function
    for PTPN22 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTN22_HUMAN, Q9Y2R2
    Function: Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src
    family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling
    molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394'
    residue. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator
    SKAP2
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Enzyme regulation: Down-regulated by phosphorylation

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

         Enzyme Number (IUBMB): EC 3.1.3.481

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IDA10068674
    GO:0005515protein binding IPI10068674
    GO:0016791phosphatase activity ----
    GO:0017124SH3 domain binding ISS--
    GO:0019900kinase binding ISS--
         
    PTPN22 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PTPN22:
     Decreased focal adhesion (FA)   Increased apoptosis  Upregulation of Wnt/beta-caten 

         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ptpn22):
     cellular  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  renal/urinary system  respiratory system 

    PTPN22 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTPN22: Ptpn22tm1Achn Ptpn22tm2Achn

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTPN22 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPN22 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPN22 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PTPN22:
    hsa-miR-16-1*
    SwitchGear 3'UTR luciferase reporter plasmid: PTPN22 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PTPN22
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTPN22

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): PTPN22 (NM_015967)
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                         Customized lentivirus expression plasmids for stable overexpression of PTPN22 

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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN22


    Pathways & Interactions
    for PTPN22 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTPN22 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    		Epithelial Adherens Junctions0.36
    2Anandamide biosynthesis and metabolism
    		Anandamide biosynthesis and metabolism0.34
    3CD28 co-stimulation
    		CTLA4 Signaling0.31
    4Lymphocyte Signaling
    		Lymphocyte Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PTPN22
        Anandamide biosynthesis and metabolism

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PTPN22
        CTLA4 Signaling
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for PTPN22
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for PTPN22
        Anandamide biosynthesis and metabolism



    PTPN22 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPN22

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/22 Interacting proteins for PTPN22 (Q9Y2R21, 2, 3 ENSP000003528334) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD247P209631, 3, ENSP000003547824EBI-1211241,EBI-1165705 I2D: score=3 STRING: ENSP00000354782
    LCKP062391, 3, ENSP000003378254EBI-1211241,EBI-1348 I2D: score=3 STRING: ENSP00000337825
    ZAP70P434031, 3, ENSP000002649724EBI-1211241,EBI-1211276 I2D: score=3 STRING: ENSP00000264972
    CBLP226812, 3, ENSP000002640334MINT-8215437 MINT-8215446 I2D: score=1 STRING: ENSP00000264033
    GRB2P629932, 3, ENSP000003390074MINT-7033943 MINT-7033873 I2D: score=4 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS--
    GO:0016311dephosphorylation ----
    GO:0030217T cell differentiation ISS--
    GO:0032817regulation of natural killer cell proliferation IDA--
    GO:0035335peptidyl-tyrosine dephosphorylation IDA10068674

    PTPN22 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PTPN22 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTPN22 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTPN22 (PTN22)

    2 HMDB Compounds for PTPN22    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred chemical compound relationships for PTPN22 gene    About this table
    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)

    Search CenterWatch for drugs/clinical trials and news about PTPN22 / PTN22

    Transcripts
    for PTPN22 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PTPN22 gene (3 alternative transcripts): 
    NM_001193431.1  NM_012411.4  NM_015967.5  

    Unigene Cluster for PTPN22:

    Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
    Hs.535276  [show with all ESTs]
    Unigene Representative Sequence: NM_015967
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460620 ENST00000359785(uc001eds.3 uc021orx.1 uc009wgq.3 uc021ory.1 uc010owo.2 uc001edt.3)
    ENST00000528414 ENST00000469077 ENST00000532224 ENST00000420377(uc009wgr.2 uc009wgs.2)
    ENST00000525799 ENST00000484147(uc001edu.2) ENST00000534519 ENST00000529045
    ENST00000538253
    miRNA
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    hsa-miR-16-1*
    SwitchGear 3'UTR luciferase reporter plasmid: PTPN22 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF001846.1 AF077031.1 AK303124.1 AK310570.1 AK310698.1 BC017785.1 BC071670.1 GU479452.1 
    JN084012.1 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):

    BX482744 AW504119 AA298761 BM458477 NM_015967 AA906845 BC071670 AA748329 
    BX099228 AW576125 AL597518 BG198463 BG614041 AI016085 BG541535 BG536550 
    NM_012411 AA721264 CD687350 BG219901 BE241812 AF077031 AV705592 BU198510 

    GeneLoc Exon Structure

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

    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:                                                                                                                                                            


    ECgene alternative splicing isoforms for PTPN22

    Expression
    for PTPN22 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTPN22 expression in normal human tissues (normalized intensities)      PTPN22 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PTPN22 Expression
    About this image


    PTPN22 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             cd8+ t cell   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See PTPN22 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTPN22

    SOURCE GeneReport for Unigene cluster: Hs.535276

    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

        SABiosciences Expression via Pathway-Focused PCR Array including PTPN22: 
              Protein Phosphatases in human mouse rat

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    Orthologs
    for PTPN22 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PTPN22 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ptpn221 , 5 protein tyrosine phosphatase, non-receptor type 22 more1, 5 79.87(n)1
    71.8(a)1    		   3 (45.52 cM)5
    192601  NM_008979.11  NP_033005.11 
     1038597955 
    chicken
    (Gallus gallus)    		 Aves PTPN221 protein tyrosine phosphatase, non-receptor type 22 more 59.19(n)
    53.59(a)    		   772032  XM_001235233.2  XP_001235234.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PTPN226
    		 Uncharacterized protein
    		 41(a)
    		 1 ↔ 1
    		 4(139233222-139278542)
    zebrafish
    (Danio rerio)    		 Actinopterygii ptpn221 protein tyrosine phosphatase, non-receptor type 22 56.25(n)
    50.57(a)    		   565606  NM_001099420.1  NP_001092890.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta PTP-ER6
    CG423276
    		 --
    		 8(a)
    6(a)
    		 possible ortholog
    1 ↔ many
    		 2R(17506889-17511947)
    3R(7481875-7499697)


    ENSEMBL Gene Tree for PTPN22 (if available)
    TreeFam Gene Tree for PTPN22 (if available)

    Paralogs
    for PTPN22 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTPN22 gene
    PTPN12  PTPRH2  PTPRO2  PTPN112  PTPN92  PTPN62  PTPRQ2  PTPRJ2  
    PTPN182  PTPN122  PTPN22  PTPRB2  
    18/68 SIMAP similar genes for PTPN22 using alignment to 7 protein entries:     PTN22_HUMAN (see all proteins) (see all similar genes):
    PTP    ABI2    BEAN1    HINFP    PUS1    PFKFB3
    NELFA    TUBA1C    ARIH1    RQCD1    TNNT1    ATF1
    EEF1E1    EIF3G    NDC80    NLN    NLRC5    PTPN18

    PTPN22 for paralogs           About GeneDecksing



    Genomic Variants
    for PTPN22 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1061 SNPs in PTPN22 are shown (see all 1061)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs24766011,2,4
    		C,F,Hother1114446512(+) TGTCCG/ATACAG 6 /R /W mis1 ese326Minor allele frequency- A:0.06NS EA NA WA CSA EU 8180
    rs715787921,2
    		C--112228925(+) GCAGA-/TTTTTT 3 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs715787951,2
    		C,F--112244051(+) CAAAA-/TG/   
      TGTGTG    TGTGT     		6 -- int1 cds12NA CSA 4
    rs345783331,2
    		C--112248019(+) TTTTT-/TGATGA 3 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs57771681,2
    		C--112248994(+) ttttt-/Tttgga 3 -- int1 trp32Minor allele frequency- T:0.25NA CSA 4
    rs1130294101,2
    		C--112250352(+) TTATT-/TATTTAT 3 -- int11Minor allele frequency- TA:0.00CSA 2
    rs1997114881,2
    		--112250353(+) ATTTA-/TTTTAT 3 -- int10--------
    rs668473261,2
    		C--112264670(+) TATATT/ATATAT 3 -- int11Minor allele frequency- A:0.50NA 2
    rs3692805191,2
    		C--112264670(+) tatat-/A/A   
       T    /ATA    tattt     		6 -- int1 cds11NA 2
    rs354026891,2
    		C--112266163(+) TGGGT-/AAAAAT 3 -- int12Minor allele frequency- A:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for PTPN22 (114356433 - 114414381 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PTPN22:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv23869CNV Loss19812545
    nsv831093CNV Loss17160897


    Human Gene Mutation Database (HGMD): PTPN22
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    Disorders / Diseases
    for PTPN22 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 600716   
    OMIM disorders: 222100  180300  152700  
    UniProtKB/Swiss-Prot: PTN22_HUMAN, Q9Y2R2
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile
    multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints,
    kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory
    mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated
    erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

    • 20/80 diseases for PTPN22 (see all 80):    About MalaCards
    type 1 diabetes    systemic lupus erythematosus    palindromic rheumatism    graves' disease
    rheumatoid arthritis, association with    diabetes, type 2    rheumatoid arthritis    lupus erythematosus
    lymphopenia    autoimmune thyroiditis    chronic mucocutaneous candidiasis    vitiligo
    thrombotic thrombocytopenic purpura    addison's disease    achalasia    arthritis
    takayasu's arteritis    brucellosis    multifocal motor neuropathy    anterior uveitis

    7 diseases from the University of Copenhagen DISEASES database for PTPN22:
    Rheumatoid arthritis     Hypersensitivity reaction type II disease     Connective tissue disease     Hyperthyroidism
    Diabetes mellitus     Thyroiditis     Addison's disease

    PTPN22 for disorders           About GeneDecksing

    10/19 Novoseek inferred disease relationships for PTPN22 gene (see all 19)    About this table

    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)

    Genetic Association Database (GAD): PTPN22
    Human Genome Epidemiology (HuGE) Navigator: PTPN22 (268 documents)

    Export disorders for PTPN22 gene to outside databases

    Publications
    for PTPN22 gene

    (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)
    About This Section

    PubMed articles for PTPN22 gene, integrated from 9 sources (see all 402):
    (articles sorted by number of sources associating them with PTPN22)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PubMed id 10068674)1, 2, 3, 9 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, 9 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, 9 Reddy M.V....Alarcon-Riquelme M.E. (2005)
    5. Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves' disease in a Japanese population. (PubMed id 18578611)1, 4, 9 Ichimura M....Hiromatsu Y. (2008)
    6. Identification of substrates of human protein-tyrosine phosphatase PTPN22. (PubMed id 16461343)1, 2, 9 Wu J....Clark J.M. (2006)
    7. Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. (PubMed id 16690758)1, 4, 9 Ikari K....Kamatani N. (2006)
    8. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. (PubMed id 16175503)1, 4, 9 Carlton V.E....Begovich A.B. (2005)
    9. [Association of polymorphism of proteintyrosine phosphatase nonreceptor-22 gene with AITD.] (PubMed id 18687223)1, 4, 9 Yu Z.Y....Dong B.N. (2008)
    10. Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. (PubMed id 16470599)1, 4, 9 Kawasaki E....Eguchi K. (2006)

    External Searches for PTPN22 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PTPN22 gene

    (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

    Other Databases showing PTPN22 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PTPN22 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTPN22 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PTPN22 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PTPN22 gene:
    Search GeneIP for patents involving PTPN22

    GeneCards and IP:
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