• Gene id: 916

Gene Summary

• Gene Symbol: CD3E   Gene   UCSC   Ensembl
• Aliases: IMD18, T3E, TCRE
• Gene name: CD3e molecule
• Alternate names: T-cell surface glycoprotein CD3 epsilon chain, CD3-epsilon, CD3e antigen, epsilon polypeptide (TiT3 complex), CD3e molecule, epsilon (CD3-TCR complex), T-cell antigen receptor complex, epsilon subunit of T3, T-cell surface antigen T3/Leu-4 epsilon chain,
• Gene location: 11q23.3 (118304729: 118316172)     Exons: 5     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 186830

SNPs

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

Protein Summary

• Protein general information: P07766  
  • Name: T cell surface glycoprotein CD3 epsilon chain (T cell surface antigen T3/Leu 4 epsilon chain) (CD antigen CD3e)
  • Length: 207  
  • Mass: 23147
• Sequence:

  MQSGTHWRVLGLCLLSVGVWGQDGNEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNI
  GSDEDHLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYY
  WSKNRKAKAKPVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI

• Structural information:
  • Protein Domains: (32..11-)
    (/note="Ig-like-)
    (178..20-)
    (/note="ITAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00379"-)
  • Interpro: IPR015484  IPR036179  IPR013783  IPR003598  IPR003110  
  • Prosite: PS51055
  • PDB: 1A81 1SY6 1XIW 2ROL 6JXR
  • PDBsum: 1A81 1SY6 1XIW 2ROL 6JXR
  • STRING: ENSP00000354566
• Other Databases: GeneCards:  CD3E  Malacards:  CD3E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045059	positive thymic T cell selection	IBA	biological process
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0007166	cell surface receptor signaling pathway	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0030217	T cell differentiation	IBA	biological process
GO:0042105	alpha-beta T cell receptor complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
GO:0007172	signal complex assembly	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0042101	T cell receptor complex	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0050850	positive regulation of calcium-mediated signaling	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0046641	positive regulation of alpha-beta T cell proliferation	IEA	biological process
GO:0045086	positive regulation of interleukin-2 biosynthetic process	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0032753	positive regulation of interleukin-4 production	IEA	biological process
GO:0031295	T cell costimulation	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0001954	positive regulation of cell-matrix adhesion	IEA	biological process
GO:0001772	immunological synapse	IEA	cellular component
GO:0007584	response to nutrient	IEA	biological process
GO:0050870	positive regulation of T cell activation	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0046649	lymphocyte activation	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0045060	negative thymic T cell selection	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0042105	alpha-beta T cell receptor complex	IEA	cellular component
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin	IEA	biological process
GO:0032729	positive regulation of interferon-gamma production	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0002669	positive regulation of T cell anergy	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	ISS	biological process
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0042110	T cell activation	NAS	biological process
GO:0030159	signaling receptor complex adaptor activity	NAS	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0042608	T cell receptor binding	NAS	molecular function
GO:0042101	T cell receptor complex	NAS	cellular component
GO:0019901	protein kinase binding	NAS	molecular function
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0065003	protein-containing complex assembly	NAS	biological process
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0042102	positive regulation of T cell proliferation	IMP	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05162	Measles
hsa04660	T cell receptor signaling pathway
hsa04659	Th17 cell differentiation
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05142	Chagas disease
hsa04658	Th1 and Th2 cell differentiation
hsa04640	Hematopoietic cell lineage
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
T-B+Severe combined immunodeficiency	KEGG:H00091
T-B+Severe combined immunodeficiency	KEGG:H00091
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)