Aliases for CD3E Gene
Aliases for CD3E Gene
External Ids for CD3E Gene
- HGNC: 1674
- Entrez Gene: 916
- Ensembl: ENSG00000198851
- OMIM: 186830
- UniProtKB: P07766
Previous GeneCards Identifiers for CD3E Gene
- GC11P120532
- GC11P119687
- GC11P118209
- GC11P117713
- GC11P117680
- GC11P114108
Summaries 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 T cell receptor signaling pathway and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and obsolete 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).
Additional gene information for CD3E Gene
- Monarch Initiative
- Search for CD3E at DataMed
- Search for CD3E at HumanCyc
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
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CD3E gene promoter:
-
- STAT5B
- p53
- SREBP-1c
- SREBP-1b
- SREBP-1a
- Cdc5
- GR-beta
- GR-alpha
- GR
- Hlf
Regulatory Element Products
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)
- 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:
-
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
- 11q23.3 by Ensembl
CD3E Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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=177177 and posLast=104104
- Modification sites at PhosphoSitePlus
Other Protein References for CD3E Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CD3E (CD3)
- R&D Systems Antibodies for CD3E (CD3 epsilon)
-
Custom Antibody ServicesOriGene Antibodies for CD3E
- AM05170AC-N
- AM05170BT-N
- AM05170FC-N
- AM05170PC-N
- AM05170PU-N
- AM05170RP-N
- AM05528FC-N
- AM05528PU-L
- AM06435SU-N
- AM08026AC-N
- AM08026BT-N
- AM08026C5-N
- AM08026FC-N
- AM08026FC-S
- AM08026LE-N
- AM08026PU-N
- AM08026RP-N
- AM08026RP-S
- AM08104BT-N
- AM08104FC-N
- AM08104PU-N
- AM08104RP-N
- AM08105BT-N
- AM08105FC-N
- AM08105PU-N
- AM08105RP-N
- AM09234PU-N
- AM12005PE-N
- AM12005PU-N
- AM12063LE-N
- AM12063PU-N
- AM12132AC-N
- AM12132FC-N
- AM12132LE-N
- AM12132PU-N
- AM12132RP-N
- AM20299AF-N
- AM20601PU-N
- AM26052BT-N
- AM26052PU-N
- AM31215AF-N
- AM31215BT-N
- AM31215FC-N
- AM31215PU-N
- AM31215RP-N
- AM32410SU-N
- AM50355PU-N
- AM50355PU-S
- AP07139PU-N
- AP20600PU-N
- CF506064
- CF807198
- CL001
- CL001A
- CL001B
- CL001BX
- CL001F
- CL001FX
- CL001P
- CL001PX
- CL002B
- CL002BX
- CL002F
- CL002FX
- CL002P
- DM112
- DM422
- DM422-05
- DP005
- DP005-05
- DP116
- DP116-05
- DRM005
- SM003APC
- SM003F
- SM003LE
- SM003P
- SM003PS
- SM003PT
- SM003R
- SM003RT
- SM1057AF
- SM1057APC
- SM1057APCT
- SM1057B
- SM1057F
- SM1057FT
- SM1057LE
- SM1057P
- SM1057PP
- SM1057PT
- SM1057R
- SM1057RT
- SM1754F
- SM1754P
- SM1754PS
- SM3017APC
- SM3017B
- SM3017F
- SM3017LE
- SM3017P
- SM3017PP
- SM3017R
- SM3017RD5
- SM3152LE
- SM3152P
- TA320270
- TA320271
- TA320272
- TA320273
- TA321191
- TA327165
- TA337189
- TA341374
- TA352815L
- TA506064
- TA506064S
- UM500048
- UM500048CF
- UM570048
- Novus Biologicals Antibodies for CD3E
-
Abcam antibodies for CD3E
- Invitrogen Antibodies for CD3E (AFLGC-CD3E)
- antibodies-online: Search results for 1002 available CD3E Antibodies ranked by validation data
- Compare Top CD3E Antibodies
-
Recommended
- 158 WB Antibodies (anti-mouse)
- 155 FACS Antibodies (anti-mouse)
- 58 IP Antibodies (anti-mouse)
- 37 IHC Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 18 IHC (p) Antibodies (anti-mouse)
- 17 IF Antibodies (anti-mouse)
- 5 in vitro Antibodies (anti-mouse)
- 4 ICFC Antibodies (anti-mouse)
- 2 Neut Antibodies (anti-mouse)
- 60 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 3 IF Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 223 WB Antibodies (anti-human)
- 118 FACS Antibodies (anti-human)
- 35 IHC (p) Antibodies (anti-human)
- 29 IP Antibodies (anti-human)
- 27 IF Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 18 IHC (fro) Antibodies (anti-human)
- 11 IHC Antibodies (anti-human)
- 6 ICC Antibodies (anti-human)
- 1 Func Antibody (anti-human)
- 1 RID Antibody (anti-human)
- GeneTex CD3E Antibody for CD3E
-
Santa Cruz Biotechnology (SCBT) Antibodies for CD3E
- Sino Biological Antibodies for CD3E
Protein Products
- R&D Systems Proteins and Enzymes for CD3E (CD3 epsilon)
- Search Origene for MassSpec and Protein Over-expression Lysates for CD3E
- Origene Custom Protein Services for CD3E
- Sino Biological Recombinant Proteins for CD3E
- Sino Biological Cell Lysates for CD3E
- ProSpec Recombinant Proteins for CD3E
- Search GeneTex for Proteins for CD3E
-
ProSci Proteins for CD3E
-
Abcam proteins for CD3E
Assay Products
- R&D Systems Cell Selection and Detection Kits and other biochemical assays for CD3E (CD3)
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for CD3E (CD3 epsilon)
- Novus Biologicals ELISA Kits for CD3E
- Sino Biological Assays for CD3E
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
Suggested Antigen Peptide Sequences for CD3E Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for CD3E Gene
Function for CD3E Gene
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 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).
- GENATLAS Biochemistry:
- cell differentiation antigen CD3E (gp16),16kDa,epsilon polypeptide,TiT3 complex (see CD3@)
Phenotypes From GWAS Catalog for CD3E Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | obsolete signal transducer activity | IEA | -- |
| GO:0004888 | transmembrane signaling receptor activity | NAS,IEA | 9485181 |
| GO:0005057 | obsolete signal transducer activity, downstream of receptor | TAS | -- |
| GO:0005515 | protein binding | IPI | 7761456 |
| GO:0017124 | SH3 domain binding | IPI | 12110186 |
Phenotypes for CD3E Gene
- MGI mutant phenotypes for CD3E:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for CD3E:
-
- Dynamic nuclei (hole, folded or small irregular)
- Decreased homologous recombination repair frequency
- Decreased viability in esophageal squamous lineage
- Increased viability with tamoxifen
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for CD3E Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CD3E
-
CRISPR Products
-
OriGene CRISPR knockouts for CD3E
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD3E
- genomics-online: gRNA clones - Search results for 149 available CD3E gene related products
- Overview of 149 available CD3E gene related products
- Applied Biological Materials CRISPR for CD3E
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD3E
- GenScript: Design CRISPR guide RNA sequences for CD3E
miRNA for CD3E Gene
- miRTarBase miRNAs that target CD3E
-
- hsa-mir-5010-5p (MIRT488505)
- hsa-mir-4525 (MIRT488507)
- hsa-mir-6090 (MIRT488508)
- hsa-mir-4430 (MIRT488509)
- hsa-mir-6797-5p (MIRT488510)
- hsa-mir-3652 (MIRT488511)
- hsa-mir-1249-5p (MIRT488512)
- hsa-mir-3135b (MIRT488513)
- hsa-mir-4772-5p (MIRT488514)
- hsa-mir-6133 (MIRT488515)
- hsa-mir-6130 (MIRT488516)
- hsa-mir-6129 (MIRT488517)
- hsa-mir-6127 (MIRT488518)
- hsa-mir-4510 (MIRT488519)
- hsa-mir-4419a (MIRT488520)
- hsa-mir-484 (MIRT488521)
- hsa-mir-3155b (MIRT488522)
- hsa-mir-3155a (MIRT488523)
- hsa-mir-4781-5p (MIRT488524)
- hsa-mir-4779 (MIRT488525)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD3E
- Browse OriGene Inhibitory RNA Products For CD3E
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3E
- genomics-online: shRNA clones - Search results for 149 available CD3E gene related products
- Overview of 149 available CD3E gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for CD3E
- Sino Biological Human cDNA Clone for CD3E
- Addgene plasmids for CD3E
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD3E
- Applied Biological Materials Clones for CD3E
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CD3E (CD3 epsilon)
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| 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 | IDA,IEA | 11390434 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD3E Gene
Pathways & Interactions for CD3E Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
| 2 | Immune response NFAT in immune response | ||
| 3 | ICos-ICosL Pathway in T-Helper Cell | ||
| 4 | TCR Signaling (Qiagen) |
.68
|
|
| 5 | T cell receptor signaling pathway | ||
Pathways by source for CD3E Gene
2 Sino Biological pathways for CD3E Gene
8 BioSystems pathways for CD3E Gene
10 Reactome pathways for CD3E Gene
8 KEGG pathways for CD3E Gene
13 GeneGo (Thomson Reuters) pathways for CD3E Gene
7 R&D Systems pathways for CD3E Gene
25 Qiagen pathways for CD3E Gene
1 Cell Signaling Technology pathway for CD3E Gene
Interacting Proteins for CD3E Gene
Selected Interacting proteins:
P07766-CD3E_HUMAN
ENSP00000354566
for CD3E Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CD3E
| 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:0007166 | cell surface receptor signaling pathway | IEA,NAS | 12110186 |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | TAS | 8530500 |
No data available for SIGNOR curated interactions for CD3E Gene
Drugs & Compounds for CD3E Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Catumaxomab | Approved, Investigational, Withdrawn | Pharma | Antibody, Target, agonist | Others | 0 | |
| Muromonab | Approved, Investigational | Pharma | binder, Target | 0 | ||
| Otelixizumab | Investigational | Pharma | antibody | 0 | ||
| Teplizumab | Investigational | Pharma | 0 | |||
| Visilizumab | Investigational | Pharma | 0 |
Drug Products
Transcripts for CD3E Gene
mRNA/cDNA for CD3E Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (83) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000361763 1548 bps (uc001psq.5)
- ENST00000529713 933 bps (uc058hxf.1)
- ENST00000528435 943 bps (uc058hxg.1)
- ENST00000526146 2643 bps (uc058hxh.1)
- ENST00000528600 1289 bps (uc058hxi.1)
Unigene Clusters for CD3E Gene
CRISPR Products
-
OriGene CRISPR knockouts for CD3E
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD3E
- genomics-online: gRNA clones - Search results for 149 available CD3E gene related products
- Overview of 149 available CD3E gene related products
- Applied Biological Materials CRISPR for CD3E
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD3E
- GenScript: Design CRISPR guide RNA sequences for CD3E
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD3E
- Browse OriGene Inhibitory RNA Products For CD3E
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3E
- genomics-online: shRNA clones - Search results for 149 available CD3E gene related products
- Overview of 149 available CD3E gene related products
Clone Products
- GenScript: Custom all cDNA clones Services for CD3E
- Sino Biological Human cDNA Clone for CD3E
- Addgene plasmids for CD3E
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD3E
- Applied Biological Materials Clones for CD3E
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CD3E (CD3 epsilon)
Expression for CD3E Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
- Umbilical Cord (Extraembryonic Tissues)
- Thymus (Hematopoietic System)
-
Spleen (Hematopoietic System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CD3E Gene:
CD3ESOURCE GeneReport for Unigene cluster for CD3E Gene:
Hs.3003Evidence 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
Primer Products
-
OriGene qPCR primer pairs for CD3E
-
OriGene qPCR primer pairs and template standards for CD3E
- genomics-online: primer clones - Search results for 149 available CD3E gene related products
- Overview of 149 available CD3E gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CD3E 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CD3E 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CD3E 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cd3e 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cd3e 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CD3E 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CD3E 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CD3E 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cd3e 33 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CD3E: view image
Paralogs for CD3E Gene
No data available for Paralogs for CD3E Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
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
(7) MalaCards diseases for CD3E Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 18 |
|
|
| t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta |
|
|
| hemometra |
|
|
| small intestine lymphoma |
|
|
| severe combined immunodeficiency |
|
|
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
Publications for CD3E Gene
- 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
- 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
- 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
- Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
- 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
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Sources for CD3E Gene
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