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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 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.
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: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 | -- |
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 | 14 |
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 |
---|---|---|---|---|---|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 18 |
|
|
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta |
|
|
severe combined immunodeficiency |
|
|
combined immunodeficiency |
|
|
small intestine lymphoma |
|
|