CD3E Gene (Protein Coding)

CD3e Molecule

GC11P118304
GIFtS:
47
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 ... See more...

Aliases for CD3E Gene

Aliases for CD3E Gene

  • CD3e Molecule 2 3 5
  • CD3e Antigen, Epsilon Polypeptide (TiT3 Complex) 2 3
  • T-Cell Surface Glycoprotein CD3 Epsilon Chain 3 4
  • 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
  • CD3e Antigen 4
  • CD3-Epsilon 3
  • IMD18 3
  • TCRE 3
  • CD3E 5

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 TCR signaling in naive CD4+ T cells and ERK Signaling. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and obsolete signal transducer activity. An important paralog of this gene is CD3G.

UniProtKB/Swiss-Prot Summary 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 development. 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 , Rfam classification and piRNA Summary for CD3E Gene

Genomics for CD3E Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH11J118303 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 258.1 +1.4 1374 5.8 GABPA ZC3H11A YY1 MNT RUNX3 ZKSCAN1 CD3E HSALNG0087518 MPZL3 ENSG00000271751 HSALNG0087519 CD3D
GH11J118238 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13 -63.9 -63931 4.6 TBP BCL11A ZNF217 MNT IKZF1 HES1 MBD2 BHLHE40 ELF1 NONO JAML MPZL3 CD3E IL10RA SCN2B MPZL2 CD3G UBE4A CD3D piR-57133-094
GH11J118273 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 17 -28.9 -28901 5.5 CEBPA ZNF217 BRCA1 ELF1 CEBPB MBD2 EP300 CTBP1 RFX5 STAT3 CD3E MPZL3 SCN4B CD3D CD3G UBE4A ENSG00000271751 JAML MPZL2 FXYD6
GH11J118358 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +55.1 55071 2.4 CHD2 TBP MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT SMAD5 ETS1 UBE4A KMT2A HINFP CENATAC VPS11 CD3E ATP5MG ENSG00000254873 ENSG00000255384 TMEM25
GH11J118174 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -129.2 -129186 2.5 CEBPA ZFP64 HOMEZ CEBPB ZNF740 VEZF1 SAP130 RXRA RFX5 TEAD3 SCN2B SCN4B CD3D CD3G CD3E TMPRSS4 FXYD6 FXYD6-FXYD2 TTC36
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD3E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD3E

Top Transcription factor binding sites by QIAGEN in the CD3E gene promoter:
  • Cdc5
  • GR
  • GR-alpha
  • GR-beta
  • Hlf
  • p53
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT5B

Genomic Locations for CD3E Gene

Latest Assembly
chr11:118,304,730-118,316,175
(GRCh38/hg38)
Size:
11,446 bases
Orientation:
Plus strand

Previous Assembly
chr11:118,175,445-118,186,888
(GRCh37/hg19 by Entrez Gene)
Size:
11,444 bases
Orientation:
Plus strand

chr11:118,175,260-118,186,890
(GRCh37/hg19 by Ensembl)
Size:
11,631 bases
Orientation:
Plus strand

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 Structure • Gene Density

RefSeq DNA sequence for CD3E Gene

Proteins for CD3E Gene

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  • 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

Protein Expression for CD3E Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CD3E Gene

  • Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
  • Ubiquitination at Lys104 and Lys177
  • Modification sites at PhosphoSitePlus

Other Protein References for CD3E Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

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

Protein Domains for CD3E Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Phosphorylated immunoreceptor signaling ITAM
ProtoNet:

Suggested Antigen Peptide Sequences for CD3E Gene

GenScript: Design optimal peptide antigens:
  • CD3E protein (A0N2Z5_HUMAN)
  • T-cell surface antigen T3/Leu-4 epsilon chain (CD3E_HUMAN)
genes like me logo Genes that share domains with CD3E: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD3E Gene

Function for CD3E Gene

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  6. Cell Lines for research

Molecular function for CD3E Gene

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 development. 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).
GENATLAS Biochemistry:
cell differentiation antigen CD3E (gp16),16kDa,epsilon polypeptide,TiT3 complex (see CD3@)

Phenotypes From GWAS Catalog for CD3E Gene

Gene Ontology (GO) - Molecular Function for CD3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA,NAS 9485181
GO:0005515 protein binding IPI 7761456
GO:0017124 SH3 domain binding IPI 12110186
GO:0019901 protein kinase binding NAS 12110186
GO:0030159 receptor signaling complex scaffold activity NAS 9886373
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:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 4
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane NAS 9485181
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with CD3E: view

Pathways & Interactions for CD3E Gene

PathCards logo

SuperPathways for CD3E Gene

SuperPathway Contained pathways
1 Translocation of ZAP-70 to Immunological synapse
Phosphorylation of CD3 and TCR zeta chains
.81
Translocation of ZAP-70 to Immunological synapse
.81
PD-1 signaling
.71
Generation of second messenger molecules
.57
2 Immune response NFAT in immune response
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
3 T cell receptor signaling pathway
T cell receptor signaling pathway
.50
PD-L1 expression and PD-1 checkpoint pathway in cancer
.39
T-Cell antigen Receptor (TCR) Signaling Pathway
.37
4 ICos-ICosL Pathway in T-Helper Cell
CD28 Signaling in T-Helper Cell
.66
ICos-ICosL Pathway in T-Helper Cell
.66
Calcium Mediated T-Cell Apoptosis
.31
5 TCR Signaling (Qiagen)
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
genes like me logo Genes that share pathways with CD3E: view

Pathways by source for CD3E Gene

1 Sino Biological pathway for CD3E Gene
13 GeneGo (Thomson Reuters) pathways for CD3E Gene
  • G-protein signaling N-RAS regulation pathway
  • G-protein signaling_Rap1A regulation pathway
  • G-protein signaling_Regulation of RAC1 activity
  • Immune response Antigen presentation by MHC class I
  • Immune response Antigen presentation by MHC class II
25 Qiagen pathways for CD3E Gene
  • Calcium Mediated T-Cell Apoptosis
  • CCR5 Pathway in Macrophages
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis
1 Cell Signaling Technology pathway for CD3E Gene

SIGNOR curated interactions for CD3E Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CD3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IEA,ISS 12652296
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002669 positive regulation of T cell anergy IEA --
GO:0007166 cell surface receptor signaling pathway IEA,NAS 12110186
genes like me logo Genes that share ontologies with CD3E: view

Drugs & Compounds for CD3E Gene

Products:

  1. Drug products for research

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Catumaxomab Approved, Investigational, Withdrawn Pharma Target, agonist, Antibody Others 15
Muromonab Approved, Investigational Pharma Target, binder 0
Otelixizumab Investigational Pharma antibody 0
Teplizumab Investigational Pharma 0
Visilizumab Investigational Pharma 14
genes like me logo Genes that share compounds with CD3E: view

Transcripts for CD3E Gene

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mRNA/cDNA for CD3E Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for CD3E Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for CD3E Gene
mRNA expression by BioGPS for CD3E GenemRNA expression by GTEx 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, MaxQB, and MOPED for CD3E Gene



Protein tissue co-expression partners for CD3E Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD3E

SOURCE GeneReport for Unigene cluster for CD3E Gene:

Hs.3003

Evidence on tissue expression from TISSUES for CD3E Gene

  • Blood(4.7)
  • Lymph node(3.4)
  • Spleen(3.4)
  • Intestine(3)
  • Bone marrow(2.9)
  • Lung(2.4)
  • Skin(2.2)
  • Liver(2.1)
  • Kidney(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

Primer products for research

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 30 31
  • 99.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CD3E 30 31
  • 78.3 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CD3E 30 31
  • 76.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cd3e 30
  • 73.73 (n)
Mouse
(Mus musculus)
 Mammalia Cd3e 30 17 31
  • 72.66 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CD3E 31
  • 56 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CD3E 30 31
  • 57.58 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CD3E 31
  • 37 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cd3e 30
  • 52.25 (n)
Species where no ortholog for CD3E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CD3E: view image

Paralogs for CD3E Gene

Paralogs for CD3E Gene

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

Variants for CD3E Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD3E Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
835442 Likely Pathogenic: Immunodeficiency 18 118,312,171(+) G/A
NM_000733.4(CD3E):c.103+1G>A 		SPLICE_DONOR
838943 Uncertain Significance: Immunodeficiency 18 118,312,716(+) G/A
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser) 		MISSENSE
841090 Uncertain Significance: Immunodeficiency 18 118,304,969(+) A/C
NM_000733.4(CD3E):c.17A>C (p.His6Pro) 		MISSENSE
847887 Pathogenic: Immunodeficiency 18 118,312,772(+) ATT/A
NM_000733.4(CD3E):c.261_262del (p.Ser88fs) 		FRAMESHIFT
847888 Pathogenic: Immunodeficiency 18 118,313,844(+) C/T
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD3E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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: OMI, CVR, GTR, ORP, COP, and GCD

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
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
combined immunodeficiency
  • combined t cell and b cell immunodeficiency
small intestine lymphoma
  • small intestinal lymphoma
- 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 variants 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD3E: view

Publications for CD3E Gene

  1. 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 41
  2. 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 41
  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 41
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for CD3E gene in Mastermind

Products for CD3E Gene

  • Addgene plasmids for CD3E