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CD247 Gene

protein-coding   GIFtS: 68
GCID: GC01M167399

CD247 Molecule

(Previous names: CD3z antigen, zeta polypeptide (TiT3 complex), CD247 antigen)
(Previous symbol: CD3Z)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
CD247 Molecule1 2     CD3H2
CD3Z1 2 3 5     CD3Q2
TCRZ2 3 5     CD247 Antigen, Zeta Subunit2
CD247 Antigen1 3     CD3zeta Chain2
CD3z Antigen, Zeta Polypeptide (TiT3 Complex)1 2     T-Cell Antigen Receptor Complex, Zeta Subunit Of CD32
T3Z2 3     T-Cell Surface Glycoprotein CD3 Zeta Chain2
T-Cell Receptor T3 Zeta Chain2 3     TCR Zeta Chain2
CD3-ZETA2     

External Ids:    HGNC: 16771   Entrez Gene: 9192   Ensembl: ENSG000001988217   OMIM: 1867805   UniProtKB: P209633   
ORGUL members:         

Export aliases for CD247 gene to outside databases

Previous GC identifers: GC01M165666 GC01M138645


(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 CD247 Gene:
The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and
gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The
zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction
pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript
variants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CD247 Gene:
CD247 (CD247 molecule) is a protein-coding gene. Diseases associated with CD247 include immunodeficiency due to defect in cd3-zeta, and cd3zeta deficiency. GO annotations related to this gene include transmembrane signaling receptor activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963
Function: Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen
triggering

Gene Wiki entry for CD247 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD247 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   STAT5A   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD247 promoter sequence
   Search Chromatin IP Primers for CD247

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD247


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

Entrez Gene cytogenetic band: 1q24.2   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24.2

CD247 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD247 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M167399:  view genomic region     (about GC identifiers)

Start:
167,399,877 bp from pter      End:
167,487,847 bp from pter
Size:
87,971 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963 (See protein sequence)
Recommended Name: T-cell surface glycoprotein CD3 zeta chain precursor  
Size: 164 amino acids; 18696 Da
Subunit: The TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer
coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma, delta, epsilon, zeta, and eta.
CD3-zeta forms either homodimers or heterodimers with CD3-eta. Interacts with SLA and SLA2. Interacts with DOCK2
and TRAT1. Interacts with HIV-1; this interaction up-regulates the expression of the Fas ligand (FASLG) at the
cell surface. Interacts with HIV-2 Nef protein; this interaction induces down-regulation of cell surface TCR/CD3
complexes. Interacts with SHB. Interacts with ZAP70. Interacts (tyrosine phosphorylated) with SHC1 (via SH2
domain). Interacts with PTPRC
6 PDB 3D structures from and Proteopedia for CD247:
1TCE (3D)        1YGR (3D)        2HAC (3D)        2OQ1 (3D)        3IK5 (3D)        3IOZ (3D)    
Secondary accessions: B1AK49 Q5VX13 Q8TAX4
Alternative splicing: 3 isoforms:  P20963-1   P20963-2   P20963-3   

Explore the universe of human proteins at neXtProt for CD247: NX_P20963

Explore proteomics data for CD247 at MOPED

Post-translational modifications: 

  • Phosphorylated on Tyr residues after T-cell receptor triggering (By similarity)1
  • Ubiquitination2 at Lys88, Lys99, Lys104, Lys118, Lys129, Lys136, Lys150
  • Modification sites at PhosphoSitePlus

  • See CD247 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000725.1  NP_932170.1  

    ENSEMBL proteins: 
     ENSP00000354782   ENSP00000375969  

    CD247 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CD247
    OriGene Protein Over-expression Lysate for CD247
    OriGene MassSpec for CD247
    OriGene Custom Protein Services for CD247
    GenScript Custom Purified and Recombinant Proteins Services for CD247
    Novus Biologicals CD247 Proteins
    Novus Biologicals CD247 Lysates
    Sino Biological Recombinant Protein for CD247
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CD247
    Cloud-Clone Corp. Proteins for CD247

    CD247 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CD247
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CD247
    OriGene Custom Antibody Services for CD247
    Novus Biologicals CD247 Antibodies
    Abcam antibodies for CD247 (P04234, P20963)
    Cloud-Clone Corp. Antibodies for CD247
    ThermoFisher Antibody for CD247
    LSBio Antibodies in human, mouse, rat for CD247

    CD247 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CD247
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CD247
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CD247
    Cloud-Clone Corp. CLIAs for CD247


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    3 InterPro protein domains:
     IPR003110 Phos_immunorcpt_sig_ITAM
     IPR021663 CR3_zeta/IgE_Fc_rcpt_gamma
     IPR024128 T-cell_CD3_zeta/eta

    Graphical View of Domain Structure for InterPro Entry P20963

    ProtoNet protein and cluster: P20963

    1 Blocks protein domain: IPB003110 Phosphorylated immunoreceptor signaling ITAM

    UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963
    Domain: The ITAM domains mediate interaction with SHB
    Similarity: Belongs to the CD3Z/FCER1G family
    Similarity: Contains 3 ITAM domains


    CD247 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD3Z_HUMAN, P20963
    Function: Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen
    triggering

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity IEA--
    GO:0005515protein binding IPI10704231
    GO:0042802identical protein binding IPI17055436
    GO:0042803protein homodimerization activity NAS12110186
         
    CD247 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CD247:
     Wnt reporter upregulated 

         8 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Cd247):
     cellular  embryogenesis  hematopoietic system  immune system  mortality/aging 
     nervous system  normal  reproductive system 

    CD247 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CD247: Cd247/Pou2f1Cd247/tm1Tks Cd247tm1Mhu Cd247tm1Lov Cd247tm1Mal Cd247tm1Tks

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD247
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD247

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD247
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD247

    miRNA
    Products:
        
    miRTarBase miRNAs that target CD247:
    hsa-mir-346 (MIRT004233)

    Block miRNA regulation of human, mouse, rat CD247 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CD247:
    hsa-miR-214 hsa-miR-330-5p hsa-miR-326 hsa-miR-193a-5p hsa-miR-3120-3p hsa-miR-491-3p hsa-miR-761 hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidCD247 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CD247
    Predesigned siRNA for gene silencing in human, mouse, rat CD247

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CD247

    Clone
    Products:
         
    OriGene clones in human, mouse for CD247 (see all 15)
    OriGene ORF clones in mouse, rat for CD247
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CD247 (NM_198053)
    Sino Biological Human cDNA Clone for CD247
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD247
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD247

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CD247
    Browse ESI BIO Cell Lines and PureStem Progenitors for CD247 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD247


    (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
    CD3Z_HUMAN, P20963: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    endoplasmic reticulum1
    endosome1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11390434
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0042101T cell receptor complex IDA8176201

    CD247 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CD247 About   (see all 27)  
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    T cell receptor signaling pathway0.38
    TCR Signaling Pathway0.36
    2IL12-mediated signaling events
    Immune response IL 12 induced IFN gamma production0.33
    IL12-mediated signaling events0.33
    3Immune response Role of DAP12 receptors in NK cells
    Immune response CD16 signaling in NK cells0.33
    Natural killer cell mediated cytotoxicity0.31
    4Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse0.83
    PD-1 signaling0.72
    Phosphorylation of CD3 and TCR zeta chains0.83
    Generation of second messenger molecules0.62
    5Immune response NFAT in immune response
    Immune response NFAT in immune response0.55
    Immune response T cell receptor signaling pathway0.50
    Immune response ICOS pathway in T helper cell0.55
    Immune response CD28 signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CD247 (see all 25)
        Calcium Mediated T-Cell Apoptosis
    Nur77 Signaling in T-Cell
    Intracellular Calcium Signaling
    NFAT Signaling and Lymphocyte Interactions
    CTL Mediated Apoptosis

    Selected GeneGo (Thomson Reuters) Pathways for CD247 (see all 14)
        G-protein signaling Regulation of RAC1 activity
    Immune response Antigen presentation by MHC class II
    Immune response CD28 signaling
    Immune response CD16 signaling in NK cells
    Immune response IL-12-induced IFN-gamma production

    Selected BioSystems Pathways for CD247 (see all 8)
        TCR Signaling Pathway
    IL12-mediated signaling events
    HIV-1 Nef- Negative effector of Fas and TNF-alpha
    TCR signaling in naive CD4+ T cells
    IL12 signaling mediated by STAT4



    3 Kegg Pathways  (Kegg details for CD247):
        Natural killer cell mediated cytotoxicity
    T cell receptor signaling pathway
    Chagas disease (American trypanosomiasis)


    CD247 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD247: 
              HIV Host Response in human mouse rat
              Cell Surface Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD247

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

    Selected Interacting proteins for CD247 (P209631, 2, 3 ENSP000003547824) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZAP70P434031, 2, 3, ENSP000002649724EBI-1165705,EBI-1211276 MINT-8027153 MINT-8033018 MINT-8036100 MINT-8036025 MINT-8027168 MINT-8036085 MINT-8036010 MINT-8031499 MINT-8034584 MINT-8034599 MINT-8031468 MINT-8032988 MINT-8033003 MINT-8036055 MINT-8031453 MINT-8034614 MINT-8032973 MINT-8033033 MINT-8032943 MINT-8036070 MINT-8032958 MINT-8036040 I2D: score=5 STRING: ENSP00000264972
    LCKP062392, 3, ENSP000003378254MINT-60782 I2D: score=4 STRING: ENSP00000337825
    PTPN22Q9Y2R21, 3, ENSP000003528334EBI-1165705,EBI-1211241 I2D: score=3 STRING: ENSP00000352833
    SHC1P293532, 3, ENSP000004013034MINT-8031484 I2D: score=3 STRING: ENSP00000401303
    ENSG00000237103O149313, ENSP000004169444I2D: score=2 STRING: ENSP00000416944
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway ----
    GO:0016032viral process TAS--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0031295T cell costimulation TAS--
    GO:0038096Fc-gamma receptor signaling pathway involved in phagocytosis TAS--

    CD247 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD247 (CD3Z)

    1 DrugBank Compound for CD247    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MuromonabAntiCD3 (see all 2)140608-64-6target--2503348 8861551

    10 Novoseek inferred chemical compound relationships for CD247 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 64.7 63 1531339 (4), 10400695 (3), 15944285 (3), 9531350 (2) (see all 40)
    gdp 25 5 7721329 (4), 1547789 (1)
    calcium 18.4 9 1532798 (1), 16116236 (1), 10958781 (1), 15307176 (1) (see all 8)
    phosphatidylinositol 11.9 1 8195151 (1)
    arginine 10.2 15 15922712 (4), 12874210 (4), 18817562 (2), 11300497 (2) (see all 5)
    gtp 9.61 7 7721329 (5), 1386076 (1), 1547789 (1)
    lipid 0.347 6 16116236 (1), 17410622 (1), 11851345 (1), 11062556 (1) (see all 5)
    estradiol 0 4 19265538 (1), 19086989 (1)
    leucine 0 1 9295038 (1)
    estrogen 0 4 19086989 (1)



    CD247 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CD247 gene (2 alternative transcripts): 
    NM_000734.3  NM_198053.2  

    Unigene Cluster for CD247:

    CD247 molecule
    Hs.156445  [show with all ESTs]
    Unigene Representative Sequence: AK223325
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485089 ENST00000483825(uc001gek.2) ENST00000362089 ENST00000392122(uc001gei.4 uc001gej.4)
    ENST00000476733 ENST00000470379 ENST00000479979
    miRNA
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    Block miRNA regulation of human, mouse, rat CD247 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CD247:
    hsa-miR-214 hsa-miR-330-5p hsa-miR-326 hsa-miR-193a-5p hsa-miR-3120-3p hsa-miR-491-3p hsa-miR-761 hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidCD247 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CD247
    Predesigned siRNA for gene silencing in human, mouse, rat CD247
    Clone
    Products:
         
    OriGene clones in human, mouse for CD247 (see all 15)
    OriGene ORF clones in mouse, rat for CD247
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CD247 (NM_198053)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD247
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD247
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CD247
    OriGene qSTAR qPCR primer pairs in human, mouse for CD247
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD247
      QuantiTect SYBR Green Assays in human, mouse, rat CD247
      QuantiFast Probe-based Assays in human, mouse, rat CD247

    Additional mRNA sequence: 

    AF228312.1 AK223325.1 AK313946.1 BC025703.1 EF079882.1 EF364117.1 EF364118.1 EF364119.1 
    EU117371.1 EU117372.1 EU117373.1 J04132.1 X55510.1 X55511.1 X55512.1 

    8 DOTS entries:

    DT.454181  DT.101963675  DT.101959157  DT.92421892  DT.121331152  DT.121331129  DT.121331134  DT.121331140 

    Selected AceView cDNA sequences (see all 59):

    CR614814 BM921412 AL532484 BI838213 BM925225 CR619292 BQ051777 AL554350 
    BX464301 BP366840 AI271609 AL524754 AL577089 BM988222 BF836073 CR601423 
    AW028320 AA371606 T29531 BI819937 AI420774 BI832527 AL557554 NM_198053 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CD247 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9
    SP1:                    -     -     -                 -     -     -           -           -           -               
    SP2:                    -     -     -                 -     -     -           -           -                           
    SP3:                    -     -     -                 -     -     -           -                                       
    SP4:                                                  -     -     -                                                   
    SP5:                                -                                                                                 


    ECgene alternative splicing isoforms for CD247

    (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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    CD247 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAAGCCTT
    CD247 Expression
    About this image


    CD247 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 7 entries
             Natural Killer Cells Peripheral Blood
             Peripheral blood Pan-T Cells   
             cd4+ t cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood Pan-T Cells   
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Brain (Nervous System)
             Thalamus
    CD247 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD247 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156445
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD247: 
              HIV Host Response in human mouse rat
              Cell Surface Markers in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CD247 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd2471 , 5 CD247 antigen1, 5 81.71(n)1
    81.1(a)1
      1 (73.14 cM)5
    125031  NM_001113391.21  NP_001106862.11 
     1657886815 
    chicken
    (Gallus gallus)
    Aves CD2471 CD247 molecule 69.12(n)
    63.19(a)
      395911  NM_206879.1  NP_996762.1 
    lizard
    (Anolis carolinensis)
    Reptilia CD2476
    CD247 molecule
    52(a)
    1 ↔ 1
    3(163681372-163689097)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF499688.12   -- 77.66(n)    AF499688.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cd247l6
    CD247 antigen like
    28(a)
    1 ↔ 1
    9(35328199-35340146) ENSDARG00000077240


    ENSEMBL Gene Tree for CD247 (if available)
    TreeFam Gene Tree for CD247 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CD247 gene
    2 SIMAP similar genes for CD247 using alignment to 4 protein entries:     CD3Z_HUMAN (see all proteins):
    TCRZ    FCER1G

    CD247 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CD247 (see all 2076)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743152901,2
    Cpathogenic1173960695(-) AGAACC/TAGCTC 4 Q * stg10--------
    rs1939227401,2
    Cother1173960694(-) GAACCA/TGCTCT 4 Q L mis10--------
    rs344843791,2
    C,F--138646776(-) CCGGTGGTGC   
      AGGT
    /-
    AGACC
    2 -- cds15Minor allele frequency- -:0.02NS 190
    rs563873361,2
    C,F--138650544(+) TCCTCC/TGGAGC 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1123869781,2
    C,F--138650581(+) TCCTCT/CGGAGC 2 -- int13Minor allele frequency- C:0.01WA NA EU 399
    rs1924171541,2
    C--138650599(+) CAGCCC/TTTCCT 2 -- int10--------
    rs114572141,2
    C--138652651(+) AAAAAA/-GAAAA 2 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs341116181,2
    C--138660789(+) TCATT-/AAAAAA 2 -- int11Minor allele frequency- A:0.00NA 2
    rs355552371,2
    C--138666158(+) AAAAA-/AGAAAA 2 -- int11Minor allele frequency- A:0.00NA 2
    rs667306291,2
    C--138668283(+) TATAT-/TATATAT 2 -- int10--------

    HapMap Linkage Disequilibrium report for CD247 (167399877 - 167487847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CD247:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665370CNV Deletion23128226
    esv998064CNV Deletion20482838
    esv2719206CNV Deletion23290073
    esv1365494CNV Deletion17803354
    nsv3432CNV Insertion18451855
    nsv528380CNV Loss19592680
    nsv831814CNV Loss17160897
    nsv528248CNV Loss19592680
    nsv872524CNV Gain21882294
    nsv528710CNV Gain19592680

    Human Gene Mutation Database (HGMD): CD247
    Locus Specific Mutation Databases (LSDB): CD247

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 186780   
    OMIM disorders: 610163  
    UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963
  • Immunodeficiency due to defect in CD3-zeta (CD3ZID) [MIM:610163]: An immunological deficiency
    characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CD247 (see all 52):    
    About MalaCards
    immunodeficiency due to defect in cd3-zeta    cd3zeta deficiency    oligoarticular juvenile arthritis    polyarticular onset juvenile idiopathic arthritis
    severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive    t cell deficiency    common variable immunodeficiency    tuberculosis
    trypanosomiasis    aplastic anemia    lupus erythematosus    tetanus
    severe combined immunodeficiency    systemic lupus erythematosus    chagas disease    pulmonary tuberculosis
    leprosy    gastric adenocarcinoma    lymphoblastic leukemia    nephrotic syndrome

    1 disease from the University of Copenhagen DISEASES database for CD247:
    Cancer

    CD247 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CD247 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 56.9 13 11352243 (2), 12587826 (1), 16116236 (1), 18177736 (1) (see all 12)
    tumors 28.2 21 17332357 (2), 17867605 (1), 11753365 (1), 15313928 (1) (see all 18)
    metastatic melanoma 26.4 1 9816296 (1)
    ovarian carcinoma 24 3 20032419 (2), 9616229 (1)
    cancer 24 14 15274412 (2), 16616055 (2), 10438351 (1), 17054067 (1) (see all 11)
    autoimmune diseases 20.6 3 10910918 (1), 11389026 (1)
    melanoma 14.2 3 9815928 (1), 9816296 (1), 18245524 (1)
    ovarian cancer 13.2 4 15262119 (2), 16386781 (1), 15655551 (1)
    immunodeficiency 12.6 7 9427713 (2), 10609792 (1), 10910918 (1), 16672702 (1) (see all 5)
    ascites 5.76 2 15655551 (1), 20032419 (1)

    Genetic Association Database (GAD): CD247
    Human Genome Epidemiology (HuGE) Navigator: CD247 (9 documents)

    Export disorders for CD247 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 CD247 gene, integrated from 10 sources (see all 363):
    (articles sorted by number of sources associating them with CD247)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal localization of the human T-cell receptor zeta chain: distinction from the molecular CD3 complex. (PubMed id 2974162)1, 2, 3 Weissman A.M.... Klausner R.D. (Proc. Natl. Acad. Sci. U.S.A. 1988)
    2. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. (PubMed id 16672702)1, 2, 9 Rieux-Laucat F.... Le Deist F. (N. Engl. J. Med. 2006)
    3. Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (PubMed id 21383967)1, 4 Zhernakova A....Plenge R.M. (PLoS Genet. 2011)
    4. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. (PubMed id 21750679)1, 4 Allanore Y....Martinez M. (PLoS Genet. 2011)
    5. Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. (PubMed id 21779181)1, 4 Gorlova O....Martin J. (PLoS Genet. 2011)
    6. Multiple common variants for celiac disease influencing immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (Nat. Genet. 2010)
    7. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (Nat. Genet. 2010)
    8. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. (PubMed id 20383147)1, 4 Radstake T.R....Mayes M.D. (Nat. Genet. 2010)
    9. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    10. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (PubMed id 19898481)1, 4 Raychaudhuri S....Plenge R.M. (Nat. Genet. 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: 919 HGNC: 1677 AceView: CD3Z Ensembl:ENSG00000198821 euGenes: HUgn919
    ECgene: CD247 Kegg: 919 H-InvDB: CD247

    (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 CD247 Pharmacogenomics, SNPs, Pathways
    CD247basehttp://bioinf.uta.fi/CD247base/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cd3z/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CD247 gene:
    Search GeneIP for patents involving CD247

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



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