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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]
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 Nur77 Signaling in T-Cell and NF-KappaB Family Pathway. 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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001772 | immunological synapse | IEA | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
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 | ||
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
|
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 |
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 | 13 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD3E 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD3E 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD3E 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd3e 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd3e 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CD3E 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CD3E 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD3E 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cd3e 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
645439 | Uncertain Significance: Immunodeficiency 18 | 118,313,853(+) | G/A | MISSENSE_VARIANT | |
646469 | Uncertain Significance: Immunodeficiency 18 | 118,315,493(+) | G/A | MISSENSE_VARIANT | |
646902 | Uncertain Significance: Immunodeficiency 18 | 118,312,812(+) | C/A | MISSENSE_VARIANT | |
652168 | Uncertain Significance: Immunodeficiency 18 | 118,315,535(+) | G/A | MISSENSE_VARIANT | |
735308 | Likely Benign: not provided | 118,304,994(+) | C/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 18 |
|
|
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta |
|
|
severe combined immunodeficiency |
|
|
hemometra |
|
|
small intestine lymphoma |
|
|