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PTPRC Gene

protein-coding   GIFtS: 74
GCID: GC01P198607

Protein Tyrosine Phosphatase, Receptor Type, C


(Previous symbol: CD45)
  See PTPRC-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, Receptor Type, C1 2     GP1802
CD451 2 3 5     LY52
L-CA2 3     Protein Tyrosine Phosphatase, Receptor Type, C Polypeptide2
T2002 3     Receptor-Type Tyrosine-Protein Phosphatase C2
CD45 Antigen2 3     T200 Glycoprotein2
LCA2 5     T200 Leukocyte Common Antigen2
B2202     EC 3.1.3.483
CD45R2     Leukocyte Common Antigen3

External Ids:    HGNC: 96661   Entrez Gene: 57882   Ensembl: ENSG000000812377   OMIM: 1514605   UniProtKB: P085753   

Export aliases for PTPRC gene to outside databases

Previous GC identifers: GC01P196335 GC01P194066 GC01P195074 GC01P195896 GC01P195339 GC01P196874 GC01P169775


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTPRC Gene:
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to
be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation,
mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment
and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has
been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either
direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases
required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a
regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode
distinct isoforms, have been reported. (provided by RefSeq, Jun 2012)

GeneCards Summary for PTPRC Gene:
PTPRC (protein tyrosine phosphatase, receptor type, C) is a protein-coding gene. Diseases associated with PTPRC include testicular lymphoma, and hepatitic c virus. GO annotations related to this gene include protein kinase binding and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPRK.

UniProtKB/Swiss-Prot: PTPRC_HUMAN, P08575
Function: Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts
as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic
activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell
activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity
(By similarity)

Gene Wiki entry for PTPRC 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 at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPRC gene promoter:
         AP-1   ATF-2   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PTPRC promoter sequence
   Search Chromatin IP Primers for PTPRC

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


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

Entrez Gene cytogenetic band: 1q31-q32   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q31-q32

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P198607:  view genomic region     (about GC identifiers)

Start:
198,607,801 bp from pter      End:
198,726,545 bp from pter
Size:
118,745 bases      Orientation:
plus strand

1 alternative location:
Chr1+,NW_003315907 280,412-359,706     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PTPRC_HUMAN, P08575 (See protein sequence)
Recommended Name: Receptor-type tyrosine-protein phosphatase C precursor  
Size: 1304 amino acids; 147254 Da
Subunit: Binds GANAB and PRKCSH (By similarity). Interacts with SKAP1. Interacts with DPP4; the interaction is
enhanced in a interleukin-12-dependent manner in activated lymphocytes
2 PDB 3D structures from and Proteopedia for PTPRC:
1YGR (3D)        1YGU (3D)    
Secondary accessions: A8K7W6 Q16614 Q9H0Y6
Alternative splicing: 2 isoforms:  P08575-1   P08575-2   

Explore the universe of human proteins at neXtProt for PTPRC: NX_P08575

Explore proteomics data for PTPRC at MOPED

Post-translational modifications: 

  • Heavily N- and O-glycosylated1
  • Ubiquitination2 at Lys664, Lys715, Lys932
  • Glycosylation2 at Asn78, Asn90, Asn95, Asn184, Asn190, Asn197, Asn232, Asn240, Asn260, Asn270,
                                 Asn276, Asn284, Asn335, Asn378, Asn419, Asn468, Asn488, Asn497, Asn529
  • Modification sites at PhosphoSitePlus

  • See PTPRC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001254727.1  NP_002829.3  NP_563578.2  

    ENSEMBL proteins: 
     ENSP00000356349   ENSP00000433536   ENSP00000411355   ENSP00000356337   ENSP00000306782  
     ENSP00000356334   ENSP00000405494   ENSP00000469141   ENSP00000393360   ENSP00000356346  
     ENSP00000193532   ENSP00000471843   ENSP00000471810  
    Reactome Protein details: P08575

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    Novus Biologicals PTPRC Lysate
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    Cloud-Clone Corp. Proteins for PTPRC

     
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    antibodies-online proteins for PTPRC (27 products) 

     
    antibodies-online peptides for PTPRC

    PTPRC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PTPRC
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    PTPRC Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules
    PTPR: Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like

    IUPHAR Guide to PHARMACOLOGY protein family classification: Type C
    Receptor tyrosine phosphatases (RTP)

    Selected InterPro protein domains (see all 7):
     IPR024739 PTP_recept_N
     IPR003961 Fibronectin_type3
     IPR016335 Leukocyte_common_ag
     IPR016130 Tyr_Pase_AS
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P08575

    ProtoNet protein and cluster: P08575

    1 Blocks protein domain: IPB000242 Protein tyrosine phosphatase signature

    UniProtKB/Swiss-Prot: PTPRC_HUMAN, P08575
    Domain: The first PTPase domain interacts with SKAP1
    Similarity: Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 2 tyrosine-protein phosphatase domains


    Find genes that share domains with PTPRC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTPRC_HUMAN, P08575
    Function: Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts
    as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic
    activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell
    activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity
    (By similarity)
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for PTPRC:
    protein tyrosine phosphatase,receptor-type I,C polypeptide

         Enzyme Number (IUBMB): EC 3.1.3.481

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IDA2853967
    GO:0005001transmembrane receptor protein tyrosine phosphatase activity TAS2845400
    GO:0005515protein binding IPI10369126
    GO:0008201heparin binding ----
    GO:0016791phosphatase activity ----
         
    Find genes that share ontologies with PTPRC           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PTPRC:
     Decreased focal adhesion (FA)   Decreased viability  Increased cell death in breast 

         15 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Ptprc):
     cellular  digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system  no phenotypic analysis 
     normal  renal/urinary system  respiratory system  skeleton  tumorigenesis 

    Find genes that share phenotypes with PTPRC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PTPRC: Ptprctm1Holm Ptprctm1Mak Ptprctm1Tyb

       genOway: Develop your customized and physiologically relevant rodent model for PTPRC

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    hsa-miR-569 hsa-miR-493* hsa-miR-526b hsa-miR-32* hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidPTPRC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PTPRC

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    GenScript: all cDNA clones in your preferred vector (see all 3): PTPRC (NM_002838)
    Sino Biological Human cDNA Clone for PTPRC
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PTPRC

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTPRC_HUMAN, P08575: Membrane; Single-pass type I membrane protein. Membrane raft. Note=Colocalized with DPP4 in
    membrane rafts
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton3
    extracellular2
    nucleus2
    peroxisome2
    cytosol1
    endoplasmic reticulum1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0005925focal adhesion ISS--
    GO:0009897external side of plasma membrane IDA17213291
    GO:0009986cell surface ----

    Find genes that share ontologies with PTPRC           About GenesLikeMe


    (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 PTPRC About   (see all 25)  
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    BCR signaling pathway0.42
    T cell receptor signaling pathway0.38
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell0.66
    CD28 Signaling in T-Helper Cell0.66
    4TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64
    5L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63


    Find genes that share SuperPaths with PTPRC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for PTPRC
        A-beta Uptake & Degradation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PTPRC (see all 10)
        Activation of PKA through GPCR
    PKA Signaling
    ICos-ICosL Pathway in T-Helper Cell
    PI3K Signaling in B-Lymphocyte
    CD28 Signaling in T-Helper Cell

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

    3 GeneGo (Thomson Reuters) Pathways for PTPRC
        Immune response T cell receptor signaling pathway
    Immune response BCR pathway
    Chemotaxis CXCR4 signaling pathway

    Selected BioSystems Pathways for PTPRC (see all 7)
        EPO Receptor Signaling
    Interferon type I
    B Cell Receptor Signaling Pathway
    TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells


    2 Reactome Pathways for PTPRC
        Other semaphorin interactions
    Phosphorylation of CD3 and TCR zeta chains


    4 Kegg Pathways  (Kegg details for PTPRC):
        Cell adhesion molecules (CAMs)
    T cell receptor signaling pathway
    Fc gamma R-mediated phagocytosis
    Primary immunodeficiency

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PTPRC (see all 10): 
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Antigen Presenting Cells in human mouse rat
              Th1/Th2 Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTPRC

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

    Selected Interacting proteins for PTPRC (P085751, 2, 3 ENSP000003563464) via UniProtKB, MINT, STRING, and/or I2D (see all 115)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LCKP062391, 2, 3, ENSP000003378254EBI-1341,EBI-1348 MINT-8310416 MINT-8310873 MINT-8311622 MINT-8310398 MINT-8310648 I2D: score=7 STRING: ENSP00000337825
    CSKP412401, 2, 3, ENSP000002200034EBI-1341,EBI-1380630 MINT-8310655 MINT-8310636 I2D: score=1 STRING: ENSP00000220003
    CD22P202732, 3, ENSP000000852194MINT-8312050 I2D: score=3 STRING: ENSP00000085219
    SEMA4DQ928542, 3, ENSP000003434184MINT-8312043 I2D: score=3 STRING: ENSP00000343418
    ERBB2P046261, 3, ENSP000002695714EBI-1341,EBI-641062 I2D: score=1 STRING: ENSP00000269571
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 51):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity ----
    GO:0001915negative regulation of T cell mediated cytotoxicity ISS--
    GO:0001916positive regulation of T cell mediated cytotoxicity ----
    GO:0001960negative regulation of cytokine-mediated signaling pathway ISS--
    GO:0002244hematopoietic progenitor cell differentiation IMP--

    Find genes that share ontologies with PTPRC           About GenesLikeMe



    (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
       Enzo Life Sciences drugs & compounds for PTPRC
      Browse compounds at ApexBio 

    Browse Tocris compounds for PTPRC

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

    Selected Novoseek inferred chemical compound relationships for PTPRC gene (see all 65)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 75.2 326 7516335 (4), 8011300 (4), 1652760 (4), 1371471 (4) (see all 99)
    phosphotyrosine 68.9 23 1361757 (3), 1682382 (2), 1710891 (1), 16266868 (1) (see all 19)
    ziram 65.1 7 7522974 (1), 2138598 (1), 1830500 (1)
    [alcl] 53.8 2 1330283 (1), 18323280 (1)
    naphthol as-d chloroacetate 53.6 2 2031458 (1), 2106752 (1)
    paraffin 48.1 17 1376944 (1), 8337941 (1), 10365929 (1), 16911464 (1) (see all 13)
    monochloroacetic acid 45.2 3 10199480 (1), 10578990 (1)
    b 723 44.7 3 1710419 (1), 1689123 (1), 1709321 (1)
    p-nitrophenyl phosphate 40.8 1 12215216 (1)
    herbimycin a 37.2 1 7908233 (1)

    4 PharmGKB related drug/compound annotations for PTPRC gene    About this table
    Drug/compound PharmGKB Annotation
    Tumor necrosis factor alpha (TNF-alpha) inhibitorsCA  
    adalimumabCA  
    etanerceptCA  
    infliximabCA  



    Find genes that share compounds with PTPRC           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PTPRC gene (4 alternative transcripts): 
    NM_001267798.1  NM_002838.4  NM_080921.3  NM_080922.2  

    Unigene Cluster for PTPRC:

    Protein tyrosine phosphatase, receptor type, C
    Hs.654514  [show with all ESTs]
    Unigene Representative Sequence: NM_002838
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367379 ENST00000530727 ENST00000442510(uc001guu.1) ENST00000462363(uc001guw.1 uc009wze.1)
    ENST00000367367(uc001guv.1) ENST00000348564 ENST00000367364(uc001guq.3)
    ENST00000413409 ENST00000529828 ENST00000418674 ENST00000427110 ENST00000391970
    ENST00000484135 ENST00000491302 ENST00000367376(uc010ppg.1 uc001gur.1)
    ENST00000352140(uc009wzf.1 uc021pgy.1 uc001gut.1) ENST00000594404
    ENST00000598951
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    Additional mRNA sequence: 

    AK130573.1 AK292131.1 AK299986.1 AK303539.1 AK307635.1 AK308217.1 AK310898.1 AY429565.1 
    AY429566.1 AY567999.1 BC014239.2 BC017863.1 BC031525.1 BC121086.1 BC121087.1 BC127656.1 
    BC127657.1 BC148257.1 NR_052021.1 Y00062.1 Y00638.1 

    Selected DOTS entries (see all 34):

    DT.91865616  DT.97839257  DT.415341  DT.100816605  DT.99965985  DT.91985039  DT.95321602  DT.40261905 
    DT.91638349  DT.99999416  DT.100816604  DT.121393941  DT.99947129  DT.121393829  DT.121393843  DT.40220962 
    DT.91757224  DT.95324604  DT.100023408  DT.121393811  DT.121393815  DT.121393853  DT.121393916  DT.86859254 

    Selected AceView cDNA sequences (see all 263):

    BM991731 AI367985 AI500108 NM_002838 BQ029407 AI185650 AI880571 AI591125 
    BG548357 BC031525 AA563844 AY429566 BU679708 H74264 CA843657 BU077472 
    AA904360 AK130573 CB157202 AY429565 AV715500 AW518563 NM_080921 AW975790 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PTPRC (see all 17)    About this scheme

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

    ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b ^ 34a · 34b ^
    SP1:                                                                                                                                                            
    SP2:                                                                    -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                        -   
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for PTPRC

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

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


    PTPRC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 30) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 37 entries
             Small Pre B-Cells Hematopoietic Bone Marrow
             Bone marrow-derived mononuclear cells (family)
             Hematopoietic progenitor cells
     
     Thymus (Hematopoietic System)    fully expand to see all 4 entries
             T Helper Cells Thymus
             Thymus
     
     Bone (Muscoskeletal System)    fully expand to see all 31 entries
             Bone Marrow Stromal Cells Bone Marrow
             Bone Marrow
             Bone marrow-derived ALDH+ cells (ALD)
     
     Endothelium (Cardiovascular System)    fully expand to see all 14 entries
             Mesenchymal Stem Cells Microvessels
             Peripheral blood-derived endothelial progenitor cells
             UEA-1 isolated cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 13 entries
             Mesenchymal Stem Cells Wharton's Jelly
             Umbilical cord blood-derived multipotent stem cells
    PTPRC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPRC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654514
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PTPRC (see all 10): 
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Antigen Presenting Cells in human mouse rat
              Th1/Th2 Response in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPRC

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for PTPRC gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptprc1 , 5 protein tyrosine phosphatase, receptor type, C1, 5 74.86(n)1
    69.58(a)1
      1 (60.73 cM)5
    192641  NM_001111316.21  NP_001104786.21 
     1380634135 
    chicken
    (Gallus gallus)
    Aves PTPRC1 protein tyrosine phosphatase, receptor type, C 62.91(n)
    55.3(a)
      386580  NM_204417.1  NP_989748.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPRC6
    protein tyrosine phosphatase, receptor type, C
    52(a)
    1 ↔ 1
    GL343211.1(522728-659144)
    African clawed frog
    (Xenopus laevis)
    Amphibia ptprc-A-prov2 protein tyrosine phosphatase, receptor type, C 77.41(n)    AF024438.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125362 Transcribed sequence with weak similarity to protein more 76.05(n)    CK142444.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptp52F3 axon guidance protein tyrosine
    phosphatase
    45(a)
    (best of 2)
      52F3   --
    worm
    (Caenorhabditis elegans)
    Secernentea C02B10.63   -- 38(a)
    (best of 11)
      IV(5071125-5072423)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPRC gene
    PTPRK2  PTPRA2  PTPRG2  PTPRD2  PTPRS2  PTPRU2  PTPRM2  PTPRF2  
    PTPRZ12  PTPRT2  PTPRE2  
    8 SIMAP similar genes for PTPRC using alignment to 18 protein entries:     PTPRC_HUMAN (see all proteins):
    PTPRR    PTPN7    PTPN12    PTPRE    PTPN22    PTPRK
    PTN2    PTPN1

    Find genes that share paralogs with PTPRC           About GenesLikeMe



    (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 PTPRC (see all 2418)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356534
    A breast cancer sample4--see VAR_0356532 E A mis40--------
    VAR_0356544
    A breast cancer sample4--see VAR_0356542 G R mis40--------
    rs127231431,2
    C,F,A--169778728(+) TATCTA/GTCTAT 4 -- int15Minor allele frequency- G:0.33WA NA CSA 9
    rs57799321,2
    C--169781409(+) AGAAAA/-CCATC 4 -- int11Minor allele frequency- -:0.00NA 2
    rs573128061,2
    C--169787684(+) TGTGT-/GTGT/GTGT
    GTGTGTGT
    /TA
    ATTGG
    7 -- int1 cds10--------
    rs676114081,2
    C--169788929(+) TTTTT-/T/TT  
            
    GGTCA
    4 -- int11NA 2
    rs789004491,2
    C--169791982(+) AAGCC-/TTGGTT 4 -- int10--------
    rs38356331,2
    C--169791983(+) AGCCTT/-GGTTT 4 -- int11Minor allele frequency- -:0.50NA 2
    rs124105331,2
    C,H--169796385(+) ATATAA/TGTCCA 4 -- int10--------
    rs779421391,2
    C--169796866(+) GTGTGG/TTGTGT 4 -- int10--------

    HapMap Linkage Disequilibrium report for PTPRC (198607801 - 198726545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTPRC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721206CNV Deletion23290073
    nsv819406CNV Loss19587683
    nsv873080CNV Gain21882294

    Human Gene Mutation Database (HGMD): PTPRC
    Locus Specific Mutation Databases (LSDB): PTPRC

    2 Site Specific Mutation Identification with PCR Assays for PTPRC:
    Cosmic IdAA Change
    26909p.E228K
    25311p.E228A
    SeqTarget long-range PCR primers for resequencing PTPRC
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPRC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 151460   
    OMIM disorders: 609532  608971  
    UniProtKB/Swiss-Prot: PTPRC_HUMAN, P08575
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive
    (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and
    clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and
    cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent,
    persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of
    T-cell-mediated cellular immunity due to a defect in T-cell development. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Multiple sclerosis (MS) [MIM:126200]: A multifactorial, inflammatory, demyelinating disease of the
    central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and
    lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological
    mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral
    immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of
    sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors
    influence susceptibility to the disease. Note=Disease susceptibility may be associated with variations affecting
    the gene represented in this entry

  • 14 diseases for PTPRC:    
    About MalaCards
    testicular lymphoma    hepatitic c virus    t cell deficiency    severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive
    lymphoepithelioma-like carcinoma    plasmablastic lymphoma    epithelioid leiomyosarcoma    myeloid sarcoma
    mucinous cystadenocarcinoma    primitive neuroectodermal tumor    autoimmune lymphoproliferative syndrome    follicular dendritic cell tumor
    histiocytic sarcoma    hodgkin's lymphoma

    1 disease from the University of Copenhagen DISEASES database for PTPRC:
    Lymphoma

    Find genes that share disorders with PTPRC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PTPRC gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaplastic large cell lymphoma 73.5 2 2042431 (1), 1313610 (1)
    lymphoma large cell 71.5 3 1335094 (1), 9870851 (1), 20415195 (1)
    lymphoma 68.3 57 1376944 (4), 1330287 (4), 15583810 (3), 11378582 (3) (see all 31)
    sarcoma granulocytic 61 4 8037168 (2), 17700206 (1), 2106752 (1)
    lymphoma lymphoblastic 54.9 3 11190795 (1), 7503935 (1)
    lymphoma non-hodgkins 52.8 4 1829834 (1), 1845482 (1), 1669003 (1)
    ewings sarcoma 51.9 5 11190795 (1), 1669003 (1), 7503935 (1), 1497115 (1) (see all 5)
    tumors 50.3 101 8656013 (2), 15945093 (2), 17425998 (2), 8127145 (2) (see all 83)
    primitive neuroectodermal tumor pnet 49.1 1 12783138 (1)
    lymphoma t-cell peripheral 45.8 2 1813158 (1), 12588355 (1)

    Genetic Association Database (GAD): PTPRC
    Human Genome Epidemiology (HuGE) Navigator: PTPRC (37 documents)

    Export disorders for PTPRC 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 PTPRC gene, integrated from 10 sources (see all 834):
    (articles sorted by number of sources associating them with PTPRC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A point mutation in PTPRC is associated with the development of multiple sclerosis. (PubMed id 11101853)1, 2, 4, 9 Jacobsen M.... Hemmer B. (Nat. Genet. 2000)
    2. A deletion in the gene encoding the CD45 antigen in a patient with SCID. (PubMed id 11145714)1, 2, 9 Tchilian E.Z....Beverley P.C.L. (J. Immunol. 2001)
    3. PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism tagging. (PubMed id 18312479)1, 4, 9 Hennig B.J....Tchilian E. (Tissue Antigens 2008)
    4. PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients. (PubMed id 12028593)1, 4, 9 Miterski B....Epplen J.T. (BMC Med. Genet. 2002)
    5. PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients. (PubMed id 11528386)1, 4, 9 Barcellos L.F....Oksenberg J.R. (Nat. Genet. 2001)
    6. No association between systemic sclerosis and C77G polymorphism in the human PTPRC (CD45) gene. (PubMed id 18634151)1, 4, 9 Kirsten H....Ahnert P. (J. Rheumatol. 2008)
    7. A transmembrane protein-tyrosine phosphatase receptor type C (CD45) exon A point mutation (77 C to G) is not associated with the development of type 1 diabetes mellitus in a German population. (PubMed id 15548260)1, 4, 9 Thude H....Barz D. (Eur. J. Immunogenet. 2004)
    8. CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers. (PubMed id 12864992)1, 4, 9 Gomez-Lira M....Giordano M. (J. Neuroimmunol. 2003)
    9. Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population. (PubMed id 12147336)1, 4, 9 Ballerini C....Vergelli M. (Neurosci. Lett. 2002)
    10. An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population. (PubMed id 19111528)1, 4, 9 Szvetko A.L....Griffiths L.R. (Brain Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 5788 HGNC: 9666 AceView: PTPRC Ensembl:ENSG00000081237 euGenes: HUgn5788
    ECgene: PTPRC Kegg: 5788 H-InvDB: PTPRC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PTPRC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPRC Genetics and Cytogenetics in Oncology and Haematology
    PTPRCbasehttp://bioinf.uta.fi/PTPRCbase/
    Wikipedia http://en.wikipedia.org/wiki/CD45

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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