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    PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [ Homo sapiens ]

    Gene ID: 26191, updated on 20-May-2012

    Summary

    Official Symbol
    PTPN22provided by HGNC
    Official Full Name
    protein tyrosine phosphatase, non-receptor type 22 (lymphoid)provided by HGNC
    Primary source
    HGNC:9652
    See related
    Ensembl:ENSG00000134242; HPRD:06100; MIM:600716; Vega:OTTHUMG00000011936
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LYP; PEP; LYP1; LYP2; PTPN8
    Summary
    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]

    Genomic context

    Location :
    1p13.2
    Sequence :
    Chromosome: 1; NC_000001.10 (114356433..114414375, complement)
    See PTPN22 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene putative homeodomain transcription factor 1 Neighboring gene round spermatid basic protein 1 Neighboring gene uncharacterized LOC100287722 Neighboring gene BCL2-like 15 Neighboring gene adaptor-related protein complex 4, beta 1 subunit

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

    Diabetes, type 1, susceptibility to

    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

    REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

    Rheumatoid arthritis, susceptibility to

    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

    Systemic lupus erythematosus susceptibility to

    TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9Y2R2 P22681 CBL    HPRD  PubMed  
    Q9Y2R2 P20963 CD247    HPRD  PubMed  
    Q9Y2R2 P07766 CD3E    HPRD  PubMed  
    Q9Y2R2 P41240 CSK    HPRD  PubMed  
    Q9Y2R2 P62993 GRB2    HPRD  PubMed  
    Q9Y2R2 P06239 LCK    HPRD  PubMed  
    Q9Y2R2 P15498 VAV1    HPRD  PubMed  
    Q9Y2R2 P43403 ZAP70    HPRD  PubMed  
    BioGRID:117604 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of T cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphoanandamide dephosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein dephosphorylation TAS
    Traceable Author Statement
    more info
     
    regulation of B cell receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of innate immune response IC
    Inferred by Curator
    more info
     
    regulation of natural killer cell proliferation IDA
    Inferred from Direct Assay
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
     
    internal side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tyrosine-protein phosphatase non-receptor type 22
    Names
    tyrosine-protein phosphatase non-receptor type 22
    lymphoid phosphatase
    PEST-domain phosphatase
    lymphoid-specific protein tyrosine phosphatase
    protein tyrosine phosphatase, non-receptor type 8
    hematopoietic cell protein-tyrosine phosphatase 70Z-PEP
    NP_001180360.1
    NP_036543.4
    NP_057051.3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011432.1 RefSeqGene

      Range
      5001..62943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193431.1NP_001180360.1  tyrosine-protein phosphatase non-receptor type 22 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AA836401, AK303124, AL137856, DB145424, GU479452
      UniProtKB/TrEMBL
      B4DZW8
      UniProtKB/Swiss-Prot
      Q9Y2R2
      Conserved Domains (2) summary
      cd00047
      Location:56288
      Blast Score: 785
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      smart00194
      Location:24288
      Blast Score: 881
      PTPc; Protein tyrosine phosphatase, catalytic domain
    2. NM_012411.4NP_036543.4  tyrosine-protein phosphatase non-receptor type 22 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AA836401, AL137856, BC071670, DB145424
      Consensus CDS
      CCDS864.2
      UniProtKB/Swiss-Prot
      Q9Y2R2
      Related
      ENSP00000435176, OTTHUMP00000013721, ENST00000528414, OTTHUMT00000033018
      Conserved Domains (1) summary
      cd00047
      Location:56252
      Blast Score: 691
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    3. NM_015967.5NP_057051.3  tyrosine-protein phosphatase non-receptor type 22 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA836401, AF077031, AK303124, AL137856, DB145424
      Consensus CDS
      CCDS863.1
      UniProtKB/TrEMBL
      B4DZW8
      UniProtKB/Swiss-Prot
      Q9Y2R2
      Related
      ENSP00000352833, OTTHUMP00000013720, ENST00000359785, OTTHUMT00000033015
      Conserved Domains (2) summary
      cd00047
      Location:56288
      Blast Score: 788
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
      smart00194
      Location:24288
      Blast Score: 884
      PTPc; Protein tyrosine phosphatase, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      114356433..114414375, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      112214556..112272493, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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