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CD3E Gene

protein-coding   GIFtS: 63
GCID: GC11P118209

CD3e Molecule, Epsilon (CD3-TCR Complex)

(Previous names: CD3e antigen, epsilon polypeptide (TiT3 complex))
  See CD3E-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
CD3e Molecule, Epsilon (CD3-TCR Complex)1 2     CD3-epsilon2
CD3e Antigen, Epsilon Polypeptide (TiT3 Complex)1 2     TCRE2
T3E2 3     T-Cell Antigen Receptor Complex, Epsilon Subunit Of T32
T-Cell Surface Antigen T3/Leu-4 Epsilon Chain2 3     T-Cell Surface Glycoprotein CD3 Epsilon Chain2
IMD182 5     CD3e Antigen3

External Ids:    HGNC: 16741   Entrez Gene: 9162   Ensembl: ENSG000001988517   OMIM: 1868305   UniProtKB: P077663   

Export aliases for CD3E gene to outside databases

Previous GC identifers: GC11P120532 GC11P119687 GC11P117713 GC11P117680 GC11P114108


(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 CD3E Gene:
The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta,
and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This
complex plays an important role in coupling antigen recognition to several intracellular signal-transduction
pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on
chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause
immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. (provided by
RefSeq, Jul 2008)

GeneCards Summary for CD3E Gene:
CD3E (CD3e molecule, epsilon (CD3-TCR complex)) is a protein-coding gene. Diseases associated with CD3E include immunodeficiency 18, and cd3epsilon deficiency. GO annotations related to this gene include SH3 domain binding and protein heterodimerization activity.

UniProtKB/Swiss-Prot: CD3E_HUMAN, P07766
Function: The CD3 complex mediates signal transduction

Gene Wiki entry for CD3E (T-cell surface glycoprotein CD3 epsilon chain) 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_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD3E gene promoter:
         GR   STAT5B   p53   GR-beta   SREBP-1c   Cdc5   SREBP-1b   SREBP-1a   GR-alpha   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD3E promoter sequence
   Search Chromatin IP Primers for CD3E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD3E


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

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23

CD3E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD3E gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P118209:  view genomic region     (about GC identifiers)

Start:
118,175,260 bp from pter      End:
118,186,890 bp from pter
Size:
11,631 bases      Orientation:
plus 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, 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: CD3E_HUMAN, P07766 (See protein sequence)
Recommended Name: T-cell surface glycoprotein CD3 epsilon chain precursor  
Size: 207 amino acids; 23147 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
4 PDB 3D structures from and Proteopedia for CD3E:
1A81 (3D)        1SY6 (3D)        1XIW (3D)        2ROL (3D)    
Secondary accessions: A8K997

Explore the universe of human proteins at neXtProt for CD3E: NX_P07766

Explore proteomics data for CD3E at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys104, Lys177
  • Modification sites at PhosphoSitePlus

  • See CD3E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000724.1  
    ENSEMBL proteins: 
     ENSP00000354566   ENSP00000433975  
    Reactome Protein details: P07766

    CD3E Human Recombinant Protein Products:

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    antibodies-online proteins for CD3E (25 products) 

     
    antibodies-online peptides for CD3E

    CD3E Antibody Products:

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    antibodies-online kits for CD3E (14 products) 


    (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

    4 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013783 Ig-like_fold
     IPR003110 Phos_immunorcpt_sig_ITAM
     IPR015477 CD3_epsilon

    Graphical View of Domain Structure for InterPro Entry P07766

    ProtoNet protein and cluster: P07766

    2 Blocks protein domains:
    IPB003110 Phosphorylated immunoreceptor signaling ITAM
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: CD3E_HUMAN, P07766
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain
    Similarity: Contains 1 ITAM domain


    Find genes that share domains with CD3E           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: CD3E_HUMAN, P07766
    Function: The CD3 complex mediates signal transduction

         Genatlas biochemistry entry for CD3E:
    cell differentiation antigen CD3E (gp16),16kDa,epsilon polypeptide,TiT3 complex (see CD3@)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity ----
    GO:0004888transmembrane signaling receptor activity NAS9485181
    GO:0005057receptor signaling protein activity TAS1370449
    GO:0005515protein binding IPI11855827
    GO:0017124SH3 domain binding IPI12110186
         
    Find genes that share ontologies with CD3E           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CD3E:
     Increases Tamoxifen sensitivit 

         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Cd3e):
     behavior/neurological  cellular  hematopoietic system  immune system  integument 
     mortality/aging  nervous system 

    Find genes that share phenotypes with CD3E           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CD3E: Cd3etm1.1Lov Cd3etm1Mal Cd3etm1Lov Cd3etm1Cpt

       genOway: Develop your customized and physiologically relevant rodent model for CD3E

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    1 qRT-PCR Assays for microRNA that regulate CD3E:
    hsa-miR-615-5p
    SwitchGear 3'UTR luciferase reporter plasmidCD3E 3' UTR sequence
    Inhib. RNA
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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
    CD3E_HUMAN, P07766: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001772immunological synapse IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS9485181
    GO:0009897external side of plasma membrane IDA11390434
    GO:0016020membrane ----

    Find genes that share ontologies with CD3E           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 CD3E About   (see all 44)  
    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
    3CD28 co-stimulation
    Costimulation by the CD28 family0.44
    CTLA4 Signaling0.30
    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


    Find genes that share SuperPaths with CD3E           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for CD3E
        Th1 Differentiation
    Th17 Differentiation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CD3E (see all 25)
        Calcium Mediated T-Cell Apoptosis
    Nur77 Signaling in T-Cell
    Intracellular Calcium Signaling
    NFAT Signaling and Lymphocyte Interactions
    CTL Mediated Apoptosis

    1 Cell Signaling Technology (CST) Pathway for CD3E
        Lymphocyte Signaling

    Selected GeneGo (Thomson Reuters) Pathways for CD3E (see all 13)
        G-protein signaling Regulation of RAC1 activity
    Immune response Antigen presentation by MHC class II
    Immune response CD28 signaling
    Immune response IL-12-induced IFN-gamma production
    G-protein signaling N-RAS regulation pathway

    Selected BioSystems Pathways for CD3E (see all 8)
        TCR Signaling Pathway
    IL12-mediated signaling events
    TCR signaling in naive CD4+ T cells
    IL12 signaling mediated by STAT4
    TCR signaling in naive CD8+ T cells


    Selected Reactome Pathways for CD3E (see all 6)
        Translocation of ZAP-70 to Immunological synapse
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Downstream TCR signaling
    PD-1 signaling
    Phosphorylation of CD3 and TCR zeta chains


    Selected Kegg Pathways  (Kegg details for CD3E) (see all 6):
        Hematopoietic cell lineage
    T cell receptor signaling pathway
    Chagas disease (American trypanosomiasis)
    Measles
    HTLV-I infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD3E (see all 7): 
              Cell Surface Markers in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Insulin Resistance in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD3E

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

    Selected Interacting proteins for CD3E (P077661, 2, 3 ENSP000003545664) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 2, 3, ENSP000002889864EBI-1211297,EBI-389883 MINT-7233971 MINT-7234008 MINT-7214135 MINT-7213923 MINT-7233987 MINT-7214094 I2D: score=5 STRING: ENSP00000288986
    SYKP434051, 2, 3, ENSP000003648984EBI-1211297,EBI-78302 MINT-8031530 MINT-8035866 MINT-8035897 MINT-8031546 MINT-8035882 MINT-8031561 I2D: score=4 STRING: ENSP00000364898
    ZAP70P434031, 2, 3, ENSP000002649724EBI-1211297,EBI-1211276 MINT-8031576 MINT-8035855 MINT-8031519 I2D: score=4 STRING: ENSP00000264972
    LCKP062392, 3, ENSP000003378254MINT-8035912 I2D: score=3 STRING: ENSP00000337825
    EPS8Q129292, 3, ENSP000002811724MINT-7214058 I2D: score=1 STRING: ENSP00000281172
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    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002669positive regulation of T cell anergy IEA--
    GO:0006461protein complex assembly NAS9886373
    GO:0007166cell surface receptor signaling pathway NAS12110186
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS8530500
    GO:0007172signal complex assembly TAS8490660

    Find genes that share ontologies with CD3E           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for CD3E

    1 DrugBank Compound for CD3E    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MuromonabAntiCD3 (see all 2)140608-64-6targetbinder11752352 17016423 17139284



    (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 CD3E gene: 
    NM_000733.3  

    Unigene Cluster for CD3E:

    CD3e molecule, epsilon (CD3-TCR complex)
    Hs.3003  [show with all ESTs]
    Unigene Representative Sequence: AK091285
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361763(uc001psq.4) ENST00000529713(uc010rya.2) ENST00000528435
    ENST00000526146 ENST00000528600 ENST00000531913
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    Additional mRNA sequence: 

    AK091285.1 AK292612.1 AK301255.1 BC049847.1 X03884.1 

    5 DOTS entries:

    DT.311930  DT.100848393  DT.100848394  DT.120742596  DT.99939445 

    Selected AceView cDNA sequences (see all 83):

    BC049847 CR610563 BU783375 NM_000733 AL558308 CR608821 AW135096 CR591071 
    BQ052837 T28978 AW135942 AI935376 BU730526 AA311109 AW204533 CR609568 
    AA311625 AL557014 BX436407 BI517629 BX431986 BX437412 BI836902 BM704364 

    GeneLoc Exon Structure


    (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)
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    CD3E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CD3E Expression
    About this image


    CD3E expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 13 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone marrow-derived hematopoietic stem cells (family)
             Peripheral blood Pan-T Cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Cord Blood Pan-T Cells   
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             Thymus
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Peripheral blood-derived endothelial progenitor cells
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone marrow-derived mesenchymal stem cells
    CD3E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD3E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.3003
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD3E (see all 7): 
              Cell Surface Markers in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Insulin Resistance in human mouse rat
              T-cell & B-cell Activation in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD3E

    (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 CD3E gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd3e1 , 5 CD3 antigen, epsilon polypeptide1, 5 72.66(n)1
    65.08(a)1
      9 (24.84 cM)5
    125011  NM_007648.41  NP_031674.11 
     449987435 
    chicken
    (Gallus gallus)
    Aves CD3E1 CD3e molecule, epsilon (CD3-TCR complex) 57.58(n)
    47.88(a)
      396062  NM_206904.1  NP_996787.1 
    lizard
    (Anolis carolinensis)
    Reptilia CD3E6
    CD3e molecule, epsilon (CD3-TCR complex)
    37(a)
    1 ↔ 1
    GL343767.1(104246-112199)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cd3e1 CD3e molecule, epsilon (CD3-TCR complex) 52.25(n)
    42.57(a)
      100101735  XM_002932900.2  XP_002932946.1 


    ENSEMBL Gene Tree for CD3E (if available)
    TreeFam Gene Tree for CD3E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 CD3E (see all 433)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs783730071,2
    C,Fprobable-non-pathogenic1118048226(+) GGAGCG/AGGTGC 2 /A syn12Minor allele frequency- A:0.00WA NA 4550
    rs22314471,2
    C,Fprobable-non-pathogenic1118048235(+) GCTGGC/TGGCAG 2 G syn13Minor allele frequency- T:0.01EA NA EU 5577
    rs680867741,2
    C--114108580(+) TAGGT-/CAAAAA 1 -- us2k10--------
    rs1877964361,2
    --118037001(+) CTCATA/GTCTGT 1 -- us2k10--------
    rs1408705581,2
    --118037035(+) AGGTGA/GGCAGA 1 -- us2k10--------
    rs1912501201,2
    --118037124(+) TGGGCA/GTGGTG 1 -- us2k10--------
    rs1846699781,2
    --118037221(+) TCGCAC/TGATTG 1 -- us2k10--------
    rs2008068791,2
    C--118037261(+) TTCAT-/TAAAAA 1 -- us2k10--------
    rs1446849021,2
    --118037285(+) TTCCAC/TTTGAA 1 -- us2k10--------
    rs591389301,2
    C--118037441(+) TTTTTC/TATTTT 1 -- us2k15Minor allele frequency- T:0.38WA NA EA 362

    HapMap Linkage Disequilibrium report for CD3E (118175260 - 118186890 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CD3E: --
    Human Gene Mutation Database (HGMD): CD3E
    Locus Specific Mutation Databases (LSDB): CD3E

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD3E
    DNA2.0 Custom Variant and Variant Library Synthesis for CD3E

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 186830   
    OMIM disorders: 615615  
    7 diseases for CD3E:    
    About MalaCards
    immunodeficiency 18    cd3epsilon deficiency    immunodeficiency 18, scid variant    small intestine lymphoma
    severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related    hemometra    severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive

    4 diseases from the University of Copenhagen DISEASES database for CD3E:
    Hemometra     Amenorrhea     Myoma     Small intestine lymphoma

    Find genes that share disorders with CD3E           About GenesLikeMe

    Genatlas disease: CD3E
    immunodeficiency,severe,combined,defect in surface expression of T-cell receptor-CD3 complex and defective signal
    transduction,through the TCR

    Genetic Association Database (GAD): CD3E
    Human Genome Epidemiology (HuGE) Navigator: CD3E (7 documents)

    Export disorders for CD3E 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 CD3E gene, integrated from 10 sources (see all 128):
    (articles sorted by number of sources associating them with CD3E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study. (PubMed id 20478055)1, 4 Brophy K....McManus R. (BMC Med. Genet. 2010)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response. (PubMed id 18504423)1, 4 Wong M.L....Licinio J. (Mol. Psychiatry 2008)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    5. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    6. Crystal structure of a human CD3-epsilon/delta dimer in complex with a UCHT1 single-chain antibody fragment. (PubMed id 15534202)1, 2 Arnett K.L.... Wiley D.C. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Profiling of tyrosine phosphorylation pathways in human cells using mass spectrometry. (PubMed id 12522270)1, 2 Salomon A.R.... Peters E.C. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    9. Structural basis for Syk tyrosine kinase ubiquity in signal transduction pathways revealed by the crystal structure of its regulatory SH2 domains bound to a dually phosphorylated ITAM peptide. (PubMed id 9698567)1, 2 Fuetterer K.... Waksman G. (J. Mol. Biol. 1998)
    10. Susceptibility to type I diabetes in women is associated with the CD3 epsilon locus on chromosome 11. (PubMed id 1671006)1, 4 Wong S....Demaine A.G. (Clin. Exp. Immunol. 1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 916 HGNC: 1674 AceView: CD3E Ensembl:ENSG00000198851 euGenes: HUgn916
    ECgene: CD3E Kegg: 916 H-InvDB: CD3E

    (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 CD3E Pharmacogenomics, SNPs, Pathways
    CD3Ebasehttp://bioinf.uta.fi/CD3Ebase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CD3E[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CD3E gene:
    Search GeneIP for patents involving CD3E

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



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