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CD3D Gene

protein-coding   GIFtS: 69
GCID: GC11M118212

CD3d Molecule, Delta (CD3-TCR Complex)

(Previous names: CD3d antigen, delta polypeptide (TiT3 complex))
(Previous symbol: T3D)
  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
CD3d Molecule, Delta (CD3-TCR Complex)1 2     CD3 Antigen, Delta Subunit2
T3D1 2 3 5     CD3 Delta2
CD3d Antigen, Delta Polypeptide (TiT3 Complex)1 2     OKT3, Delta Chain2
T-Cell Receptor T3 Delta Chain2 3     T-Cell Surface Glycoprotein CD3 Delta Chain2
IMD192 5     CD3d Antigen3
CD3-DELTA2     

External Ids:    HGNC: 16731   Entrez Gene: 9152   Ensembl: ENSG000001672867   OMIM: 1867905   UniProtKB: P042343   
ORGUL members:         

Export aliases for CD3D gene to outside databases

Previous GC identifers: GC11M120566 GC11M119721 GC11M118239 GC11M117747 GC11M117714 GC11M114143


(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 CD3D Gene:
The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in
T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3
complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the
TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency
autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding
different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of
their transcripts has yet to be defined. (provided by RefSeq, Feb 2009)

GeneCards Summary for CD3D Gene:
CD3D (CD3d molecule, delta (CD3-TCR complex)) is a protein-coding gene. Diseases associated with CD3D include severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related, and cd3delta deficiency. GO annotations related to this gene include transmembrane signaling receptor activity and protein heterodimerization activity. An important paralog of this gene is CD3G.

UniProtKB/Swiss-Prot: CD3D_HUMAN, P04234
Function: The CD3 complex mediates signal transduction

Gene Wiki entry for CD3D 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_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD3D gene promoter:
         TBP   RP58   NF-1/L   NF-1   POU3F2   GATA-1   TFIID   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD3D promoter sequence
   Search Chromatin IP Primers for CD3D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD3D


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

CD3D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD3D gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M118212:  view genomic region     (about GC identifiers)

Start:
118,209,669 bp from pter      End:
118,213,459 bp from pter
Size:
3,791 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: CD3D_HUMAN, P04234 (See protein sequence)
Recommended Name: T-cell surface glycoprotein CD3 delta chain precursor  
Size: 171 amino acids; 18930 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
1 PDB 3D structure from and Proteopedia for CD3D:
1XIW (3D)    
Secondary accessions: A8MVP6
Alternative splicing: 2 isoforms:  P04234-1   P04234-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CD3D: NX_P04234

Explore proteomics data for CD3D at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys62, Lys80, Lys82
  • Glycosylation2 at Asn38, Asn74
  • Modification sites at PhosphoSitePlus

  • See CD3D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000723.1  NP_001035741.1  

    ENSEMBL proteins: 
     ENSP00000300692   ENSP00000434794   ENSP00000437335   ENSP00000376622  
    Reactome Protein details: P04234

    CD3D Human Recombinant Protein Products:

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    CD3D Antibody 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:
    CD: CD molecules

    4 InterPro protein domains:
     IPR015484 CD3_gsu/dsu
     IPR013783 Ig-like_fold
     IPR003110 Phos_immunorcpt_sig_ITAM
     IPR015485 CD3_delta

    Graphical View of Domain Structure for InterPro Entry P04234

    ProtoNet protein and cluster: P04234

    1 Blocks protein domain: IPB003110 Phosphorylated immunoreceptor signaling ITAM

    UniProtKB/Swiss-Prot: CD3D_HUMAN, P04234
    Similarity: Contains 1 ITAM domain


    CD3D 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: CD3D_HUMAN, P04234
    Function: The CD3 complex mediates signal transduction

         Genatlas biochemistry entry for CD3D:
    cell differentiation antigen CD3D (gp20),20kDa,delta polypeptide (see CD3@)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA2017177
    GO:0004888transmembrane signaling receptor activity IC9485181
    GO:0005515protein binding ----
    GO:0046982protein heterodimerization activity IPI9485181
         
    CD3D for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CD3D:
     Decreased viability of wild-ty 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cd3d):
     hematopoietic system  immune system 

    CD3D for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CD3D: Cd3dtm1Kap Cd3d/Cd3gCd3d/tm1Cpt

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD3D
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD3D

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD3D
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD3D

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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): CD3D (NM_000732)
    Sino Biological Human cDNA Clone for CD3D
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD3D
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD3D

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD3D


    (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
    CD3D_HUMAN, P04234: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    cytosol1
    golgi apparatus1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS1831653
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0042101T cell receptor complex NAS9485181

    CD3D 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 CD3D About   (see all 38)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CD3D
        IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CD3D (see all 20)
        Calcium Mediated T-Cell Apoptosis
    Nur77 Signaling in T-Cell
    NFAT Signaling and Lymphocyte Interactions
    CTL Mediated Apoptosis
    Tec Kinases Signaling

    Selected GeneGo (Thomson Reuters) Pathways for CD3D (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 CD3D (see all 7)
        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 CD3D (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 CD3D) (see all 6):
        Hematopoietic cell lineage
    T cell receptor signaling pathway
    Chagas disease (American trypanosomiasis)
    Measles
    HTLV-I infection


    CD3D for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD3D: 
              Cell Surface Markers in human mouse rat
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Stem Cells in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD3D

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

    Selected Interacting proteins for CD3D (P042342, 3 ENSP000003006924) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR3C1P041502, 3, ENSP000002315094MINT-3374054 I2D: score=1 STRING: ENSP00000231509
    CD3EP077663, ENSP000003545664I2D: score=3 STRING: ENSP00000354566
    CD247P209633, ENSP000003547824I2D: score=2 STRING: ENSP00000354782
    DERL1Q9BUN83, ENSP000002595124I2D: score=1 STRING: ENSP00000259512
    UBA52P629873, ENSP000003881074I2D: score=1 STRING: ENSP00000388107
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway IC9485181
    GO:0030217T cell differentiation IDA2017177
    GO:0031295T cell costimulation TAS--
    GO:0045059positive thymic T cell selection ISS--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IDA2017177

    CD3D 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 CD3D

    1 DrugBank Compound for CD3D    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MuromonabAntiCD3 (see all 2)140608-64-6target--2503348 8861551



    (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 CD3D gene (2 alternative transcripts): 
    NM_000732.4  NM_001040651.1  

    Unigene Cluster for CD3D:

    CD3d molecule, delta (CD3-TCR complex)
    Hs.504048  [show with all ESTs]
    Unigene Representative Sequence: AK093775
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300692(uc001pss.1 uc001pst.1 uc021qrf.1) ENST00000534687
    ENST00000529594 ENST00000392884 ENST00000526561
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    Additional mRNA sequence: 

    AK093775.1 AK311971.1 BC039035.1 BC070321.1 JN392069.1 

    11 DOTS entries:

    DT.452691  DT.100770582  DT.40277577  DT.92424063  DT.91903835  DT.92424060  DT.100722753  DT.100747237 
    DT.86847456  DT.70102502  DT.92415865 

    Selected AceView cDNA sequences (see all 101):

    CD014060 BP431347 CR599233 AA310933 AA381986 AA354873 AW628585 BP431080 
    AA381899 CD014059 NM_000732 AA381994 AA306478 BC039035 CR611428 CD014058 
    CN478514 AU185867 AA381434 AW593115 BX093175 AA934361 BP431337 BC070321 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CD3D    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                          
    SP2:                    -                     
    SP3:              -                           
    SP4:              -     -                     


    ECgene alternative splicing isoforms for CD3D

    (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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    CD3D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACTGGAAG
    CD3D Expression
    About this image


    CD3D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             T Helper Cells Peripheral Blood
             Bone marrow-derived hematopoietic stem cells (family)
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             Bone marrow-derived mesenchymal stem cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Endothelial Cells Blood Brain Barrier
             Peripheral blood-derived endothelial progenitor cells
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Endothelial Cells Blood Brain Barrier
    CD3D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD3D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504048
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD3D: 
              Cell Surface Markers in human mouse rat
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Stem Cells in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CD3D
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD3D

    (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 CD3D gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd3d1 , 5 CD3 antigen, delta polypeptide1, 5 75.24(n)1
    64.33(a)1
      9 (24.84 cM)5
    125001  NM_013487.31  NP_038515.31 
     449817935 
    chicken
    (Gallus gallus)
    Aves CD3D1 CD3d molecule, delta (CD3-TCR complex) 55.94(n)
    45.89(a)
      396518  NM_205512.1  NP_990843.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    28(a)
    1 → many
    GL343767.1(93549-102143)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cd3g1 CD3g molecule, gamma (CD3-TCR complex) 53.17(n)
    42.06(a)
      100216101  NM_001142083.1  NP_001135555.1 


    ENSEMBL Gene Tree for CD3D (if available)
    TreeFam Gene Tree for CD3D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CD3D gene
    CD3G2  
    1 SIMAP similar gene for CD3D using alignment to 5 protein entries:     CD3D_HUMAN (see all proteins):
    CD3G

    CD3D 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 CD3D (see all 137)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110335811,2
    Cpathogenic1118074325(-) GTGTGA/CCAGAG 3 * C stg1 int10--------
    rs1110335801,2
    Cpathogenic1118074870(-) ACCCAA/C/TGAGGA 4 R * stg10--------
    rs1939226171,2
    Cunknown1118073870(-) GTGAGC/TGTTGA 2 -- int10--------
    rs1501842611,2
    C--118073049(+) GGGCCA/GTAGAG 2 -- ds50010--------
    rs1390472071,2
    --118073073(+) CTTAGC/GAGCAG 2 -- ds50010--------
    rs1430632531,2
    --118073294(+) GGTGGC/TGCAGA 2 -- ds50010--------
    rs122765581,2
    H--118073376(+) ACTGTC/GTGTGT 2 -- ds50014Minor allele frequency- G:0.00NS EA 386
    rs1872075311,2
    --118073394(+) AGGAAA/GGAAGG 2 -- ds50010--------
    rs1928879911,2
    --118073463(+) CCCACA/GCCTTG 2 -- ds50010--------
    rs1132714621,2
    C--118073528(+) TGGCTG/AAGCAA 2 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for CD3D (118209669 - 118213459 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CD3D: --
    Human Gene Mutation Database (HGMD): CD3D
    Locus Specific Mutation Databases (LSDB): CD3D

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD3D
    DNA2.0 Custom Variant and Variant Library Synthesis for CD3D

    (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: 186790   
    OMIM disorders: 615617  
    UniProtKB/Swiss-Prot: CD3D_HUMAN, P04234
  • 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

  • Selected diseases for CD3D (see all 31):    
    About MalaCards
    severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related    cd3delta deficiency    severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive    viral pneumonia
    severe combined immunodeficiency    keratoacanthoma    trypanosomiasis    aplastic anemia
    leukopenia    chagas disease    measles    pneumonia
    eosinophilia    basal cell carcinoma    allergic rhinitis    rhinitis
    multiple myeloma    hiv-1    diabetes mellitus    osteoarthritis

    2 diseases from the University of Copenhagen DISEASES database for CD3D:
    Severe combined immunodeficiency     Viral pneumonia

    CD3D for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CD3D gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    severe combined immunodeficiency 65 5 15729559 (4), 17291425 (1)
    diabetes mellitus insulin-dependent 18.4 1 1982251 (1)
    necrosis 0 1 10886141 (1)

    Genetic Association Database (GAD): CD3D
    Human Genome Epidemiology (HuGE) Navigator: CD3D (4 documents)

    Export disorders for CD3D 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 CD3D gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with CD3D)
        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. A haplotype in the inducible T-cell tyrosine kinase is a risk factor for seasonal allergic rhinitis. (PubMed id 19222422)1, 4 Benson M....Cardell L.O. (Allergy 2009)
    3. PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. (PubMed id 15028279)1, 2 Jin P.... Stuve L.L. (Genomics 2004)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. (PubMed id 14602880)1, 2 Dadi H.K.... Roifman C.M. (N. Engl. J. Med. 2003)
    9. Dephosphorylation of the human T lymphocyte CD3 antigen. (PubMed id 2540970)1, 2 Alexander D....Crumpton M.J. (Eur. J. Biochem. 1989)
    10. T3 delta pre-mRNA is transcribed from a non-TATA promoter and is alternatively spliced in human T cells. (PubMed id 3488209)1, 2 Tunnacliffe A.... Rabbitts T.H. (EMBO J. 1986)

    (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: 915 HGNC: 1673 AceView: CD3D Ensembl:ENSG00000167286 euGenes: HUgn915
    ECgene: CD3D Kegg: 915 H-InvDB: CD3D

    (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 CD3D Pharmacogenomics, SNPs, Pathways
    CD3Dbasehttp://bioinf.uta.fi/CD3Dbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CD3D[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 CD3D gene:
    Search GeneIP for patents involving CD3D

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



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