• Gene id: 919

Gene Summary

• Gene Symbol: CD247   Gene   UCSC   Ensembl
• Aliases: CD3-ZETA, CD3H, CD3Q, CD3Z, IMD25, T3Z, TCRZ
• Gene name: CD247 molecule
• Alternate names: T-cell surface glycoprotein CD3 zeta chain, CD247 antigen, zeta subunit, CD3Z antigen, zeta polypeptide (TiT3 complex), CD3zeta chain, T-cell antigen receptor complex, zeta subunit of CD3, T-cell receptor T3 zeta chain, TCR zeta chain,
• Gene location: 1q24.2 (167518541: 167430639)     Exons: 10     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role i
• OMIM: 186780

SNPs

rs397514561

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

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

rs10506398

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

NC_000012.12   g.59717545A>C
NC_000012.12   g.59717545A>G
NC_000012.11   g.60111326A>C
NC_000012.11   g.60111326A>G|SEQ=[A/C/G]|GENE=SLC16A7

rs10506399

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

NC_000012.12   g.59780712G>A
NC_000012.12   g.59780712G>C
NC_000012.11   g.60174493G>A
NC_000012.11   g.60174493G>C
NM_004731.4   c.*1033G>A
NM_004731.4   c.*1033G>C
NM_004731.5   c.*1033G>A
NM_004731.5   c.*1033G>C
XM_005269231.4   c.*1033G>A
XM_005269231.4   c.*1033G>

Protein Summary

• Protein general information: P20963  
  • Name: T cell surface glycoprotein CD3 zeta chain (T cell receptor T3 zeta chain) (CD antigen CD247)
  • Length: 164  
  • Mass: 18696
  • Tissue specificity: CD3Z is expressed in normal lymphoid tissue and in peripheral blood mononuclear cells (PBMCs) (PubMed
• Sequence:

  MKWKALFTAAILQAQLPITEAQSFGLLDPKLCYLLDGILFIYGVILTALFLRVKFSRSADAPAYQQGQNQLYNEL
  NLGRREEYDVLDKRRGRDPEMGGKPQRRKNPQEGLYNELQKDKMAEAYSEIGMKGERRRGKGHDGLYQGLSTATK
  DTYDALHMQALPPR

• Structural information:
  • Protein Domains: (61..8-)
    (/note="ITAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00379-)
    (100..12-)
    (/note="ITAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00379-)
    (131..15-)
    (/note="ITAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00379"-)
  • Interpro: IPR021663  IPR003110  IPR024128  
  • Prosite: PS51055
  • PDB: 1TCE 1YGR 2HAC 2OQ1 3IK5 3IOZ 4XZ1 6JXR
  • PDBsum: 1TCE 1YGR 2HAC 2OQ1 3IK5 3IOZ 4XZ1 6JXR
  • DIP: 35404
  • STRING: ENSP00000354782
• Other Databases: GeneCards:  CD247  Malacards:  CD247

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0042105	alpha-beta T cell receptor complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042101	T cell receptor complex	TAS	cellular component
GO:0042101	T cell receptor complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	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: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:0005886	plasma membrane	TAS	cellular component
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0042101	T cell receptor complex	IEA	cellular component
GO:0042105	alpha-beta T cell receptor complex	IEA	cellular component
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:2000010	positive regulation of protein localization to cell surface	IEA	biological process
GO:0032623	interleukin-2 production	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1990782	protein tyrosine kinase binding	IPI	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa04650	Natural killer cell mediated cytotoxicity
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

Diseases

Associated diseases	References
Systemic sclerosis	KEGG:H01492
T-B+Severe combined immunodeficiency	KEGG:H00091
Systemic sclerosis	KEGG:H01492
T-B+Severe combined immunodeficiency	KEGG:H00091
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray