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Aliases for CD3E Gene

Aliases for CD3E Gene

  • CD3e Molecule 2 3 5
  • CD3e Antigen, Epsilon Polypeptide (TiT3 Complex) 2 3
  • T-Cell Surface Antigen T3/Leu-4 Epsilon Chain 3 4
  • CD3e Molecule, Epsilon (CD3-TCR Complex) 2 3
  • T3E 3 4
  • T-Cell Antigen Receptor Complex, Epsilon Subunit Of T3 3
  • T-Cell Surface Glycoprotein CD3 Epsilon Chain 3
  • CD3e Antigen 4
  • CD3-Epsilon 3
  • IMD18 3
  • TCRE 3

External Ids for CD3E Gene

Previous GeneCards Identifiers for CD3E Gene

  • GC11P120532
  • GC11P119687
  • GC11P118209
  • GC11P117713
  • GC11P117680
  • GC11P114108

Summaries for CD3E Gene

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) is a Protein Coding gene. Diseases associated with CD3E include Immunodeficiency 18 and T-B+ Severe Combined Immunodeficiency Due To Cd3delta/Cd3epsilon/Cd3zeta. Among its related pathways are G-protein signaling N-RAS regulation pathway and Toll-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and signal transducer activity.

UniProtKB/Swiss-Prot for CD3E Gene

  • Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell developement. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region (PubMed:10384095, PubMed:26507128).

Gene Wiki entry for CD3E Gene

Additional gene information for CD3E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD3E Gene

Genomics for CD3E Gene

GeneHancer (GH) Regulatory Elements for CD3E Gene

Promoters and enhancers for CD3E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I118303 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 558.2 +1.6 1559 5.8 ZC3H11A MNT RUNX3 GABPA YY1 ZKSCAN1 CD3E ENSG00000254909 UBE4A MPZL3 RPL23AP64 ENSG00000254428 ARCN1 CCDC84 BCL9L ENSG00000271751
GH11I118273 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17 -28.8 -28816 5.3 PKNOX1 NEUROD1 BATF BRCA1 RFX5 RCOR1 FOS IKZF2 SMARCC1 CEBPB CD3E MPZL3 SCN4B CD3D CD3G UBE4A ENSG00000271751 JAML MPZL2 FXYD6
GH11I118238 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -64.0 -63984 5.1 FOXA2 PKNOX1 CLOCK SMAD1 ARNT NEUROD1 SIN3A IRF4 YY1 ZNF766 JAML MPZL3 ENSG00000254909 UBE4A BCL9L ARCN1 RPL23AP64 ENSG00000254428 DPAGT1 CD3E
GH11I118210 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.1 -90.2 -90161 8 HDGF FOXA2 MLX ARID4B DMAP1 IRF4 ZNF48 ETS1 YY1 ZNF143 JAML MPZL3 CD3D CD3G CD3E MPZL2 GC11M118201 HSPE1P18
GH11I117949 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -352.8 -352753 5.4 HDGF HDAC1 FOXA2 PKNOX1 NFIB RAD21 ZNF766 GATA2 ATF7 RUNX3 GC11P117950 IL10RA TMPRSS13 CD3E CD3G DSCAML1 ENSG00000254844 FXYD6 FXYD6-FXYD2 ENSG00000254528
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD3E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD3E gene promoter:

Genomic Locations for CD3E Gene

Genomic Locations for CD3E Gene
chr11:118,304,545-118,316,175
(GRCh38/hg38)
Size:
11,631 bases
Orientation:
Plus strand
chr11:118,175,260-118,186,890
(GRCh37/hg19)

Genomic View for CD3E Gene

Genes around CD3E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD3E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD3E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD3E Gene

Proteins for CD3E Gene

  • Protein details for CD3E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07766-CD3E_HUMAN
    Recommended name:
    T-cell surface glycoprotein CD3 epsilon chain
    Protein Accession:
    P07766
    Secondary Accessions:
    • A8K997

    Protein attributes for CD3E Gene

    Size:
    207 amino acids
    Molecular mass:
    23147 Da
    Quaternary structure:
    • The TCR-CD3 complex is composed of a CD3D/CD3E and a CD3G/CD3E heterodimers that preferentially associate with TCRalpha and TCRbeta, respectively, to form TCRalpha/CD3E/CD3G and TCRbeta/CD3G/CD3E trimers. In turn, the hexamer interacts with CD3Z homodimer to form the TCR-CD3 complex. Alternatively, TCRalpha and TCRbeta can be replaced by TCRgamma and TCRdelta. Interacts with CD6 (PubMed:15294938). Interacts with NCK1 (PubMed:15972658). Interacts with NUMB; this interaction is important for TCR-CD3 internalization and subsequent degradation (PubMed:26507128).

    Three dimensional structures from OCA and Proteopedia for CD3E Gene

neXtProt entry for CD3E Gene

Post-translational modifications for CD3E Gene

  • Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
  • Ubiquitination at posLast=104104 and Lys177

Other Protein References for CD3E Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CD3E Gene

Domains & Families for CD3E Gene

Gene Families for CD3E Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CD3E Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CD3E: view

No data available for UniProtKB/Swiss-Prot for CD3E Gene

Function for CD3E Gene

Molecular function for CD3E Gene

GENATLAS Biochemistry:
cell differentiation antigen CD3E (gp16),16kDa,epsilon polypeptide,TiT3 complex (see CD3@)
UniProtKB/Swiss-Prot Function:
Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell developement. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region (PubMed:10384095, PubMed:26507128).

Phenotypes From GWAS Catalog for CD3E Gene

Gene Ontology (GO) - Molecular Function for CD3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA,NAS 9485181
GO:0005057 signal transducer activity, downstream of receptor TAS 1370449
GO:0005515 protein binding IPI 7761456
GO:0017124 SH3 domain binding IPI 12110186
genes like me logo Genes that share ontologies with CD3E: view
genes like me logo Genes that share phenotypes with CD3E: view

Human Phenotype Ontology for CD3E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD3E Gene

MGI Knock Outs for CD3E:

Clone Products

  • Addgene plasmids for CD3E

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD3E Gene

Localization for CD3E Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD3E Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD3E gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CD3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane NAS 9485181
GO:0005911 cell-cell junction IEA --
GO:0009897 external side of plasma membrane IEA,IDA 11390434
genes like me logo Genes that share ontologies with CD3E: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD3E Gene

Pathways & Interactions for CD3E Gene

genes like me logo Genes that share pathways with CD3E: view

Gene Ontology (GO) - Biological Process for CD3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002669 positive regulation of T cell anergy IEA --
GO:0006461 protein complex assembly NAS 9886373
GO:0007166 cell surface receptor signaling pathway IEA,NAS 12110186
genes like me logo Genes that share ontologies with CD3E: view

No data available for SIGNOR curated interactions for CD3E Gene

Drugs & Compounds for CD3E Gene

(10) Drugs for CD3E Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Muromonab Approved, Investigational Pharma Target, binder 0
Otelixizumab Investigational Pharma antibody 0
Visilizumab Investigational Pharma 0
ANTI-CD3 MONOCLONAL ANTIBODY Pharma 0
Catumaxomab Pharma Antibody Others 0
genes like me logo Genes that share compounds with CD3E: view

Transcripts for CD3E Gene

Unigene Clusters for CD3E Gene

CD3e molecule, epsilon (CD3-TCR complex):
Representative Sequences:

Clone Products

  • Addgene plasmids for CD3E

Alternative Splicing Database (ASD) splice patterns (SP) for CD3E Gene

No ASD Table

Relevant External Links for CD3E Gene

GeneLoc Exon Structure for
CD3E
ECgene alternative splicing isoforms for
CD3E

Expression for CD3E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD3E Gene

mRNA differential expression in normal tissues according to GTEx for CD3E Gene

This gene is overexpressed in Whole Blood (x28.8), Spleen (x6.2), and Small Intestine - Terminal Ileum (x4.2).

Protein differential expression in normal tissues from HIPED for CD3E Gene

This gene is overexpressed in Tlymphocyte (21.8), CD8 Tcells (16.0), and Peripheral blood mononuclear cells (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CD3E Gene



Protein tissue co-expression partners for CD3E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD3E Gene:

CD3E

SOURCE GeneReport for Unigene cluster for CD3E Gene:

Hs.3003

Evidence on tissue expression from TISSUES for CD3E Gene

  • Blood(4.6)
  • Lymph node(2.5)
  • Spleen(2.5)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD3E Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
  • middle ear
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CD3E: view

No data available for mRNA Expression by UniProt/SwissProt for CD3E Gene

Orthologs for CD3E Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD3E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD3E 33 34
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia CD3E 33 34
  • 78.3 (n)
dog
(Canis familiaris)
Mammalia CD3E 33 34
  • 76.53 (n)
rat
(Rattus norvegicus)
Mammalia Cd3e 33
  • 73.73 (n)
mouse
(Mus musculus)
Mammalia Cd3e 33 16 34
  • 72.66 (n)
oppossum
(Monodelphis domestica)
Mammalia CD3E 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD3E 33 34
  • 57.58 (n)
lizard
(Anolis carolinensis)
Reptilia CD3E 34
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd3e 33
  • 52.25 (n)
Species where no ortholog for CD3E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD3E Gene

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

Paralogs for CD3E Gene

No data available for Paralogs for CD3E Gene

Variants for CD3E Gene

Sequence variations from dbSNP and Humsavar for CD3E Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1126924 benign, Severe Combined Immune Deficiency, not specified 118,307,292(+) C/T coding_sequence_variant, synonymous_variant
rs121918659 pathogenic, Immunodeficiency 18 118,312,690(+) G/A coding_sequence_variant, stop_gained
rs141553540 uncertain-significance, Severe Combined Immune Deficiency 118,315,498(+) G/A coding_sequence_variant, missense_variant
rs143949187 uncertain-significance, benign, Severe Combined Immune Deficiency, Immunodeficiency 18 118,312,170(+) C/T coding_sequence_variant, missense_variant
rs148647954 uncertain-significance, Severe Combined Immune Deficiency 118,312,725(+) G/A/C/T coding_sequence_variant, missense_variant

Variation tolerance for CD3E Gene

Residual Variation Intolerance Score: 68.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD3E Gene

Human Gene Mutation Database (HGMD)
CD3E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD3E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CD3E Gene

Disorders for CD3E Gene

MalaCards: The human disease database

(8) MalaCards diseases for CD3E Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 18
  • imd18
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta
  • t-b+ scid due to cd3delta/cd3epsilon/cd3zeta
hemometra
  • hematometra
small intestine lymphoma
  • small intestinal lymphoma
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search CD3E in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD3E_HUMAN
  • Immunodeficiency 18 (IMD18) [MIM:615615]: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. {ECO:0000269 PubMed:15546002, ECO:0000269 PubMed:8490660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CD3E Gene

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

Additional Disease Information for CD3E

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD3E: view

Publications for CD3E Gene

  1. Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study. (PMID: 20478055) Brophy K … McManus R (BMC medical genetics 2010) 3 44 58
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response. (PMID: 18504423) Wong ML … Licinio J (Molecular psychiatry 2008) 3 44 58
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
  5. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill LM … Peters EC (Analytical chemistry 2004) 3 4 58

Products for CD3E Gene

  • Addgene plasmids for CD3E

Sources for CD3E Gene

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