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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 in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CD247 (CD247 Molecule) is a Protein Coding gene. Diseases associated with CD247 include Immunodeficiency 25 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 homodimerization activity and transmembrane signaling receptor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 7509083 |
GO:0042802 | identical protein binding | IDA,IPI | 17055436 |
GO:1990782 | protein tyrosine kinase binding | IPI | 8681956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 11390434 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Life Cycle |
.64
|
.45
|
2 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
3 | 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
|
4 | T cell receptor signaling pathway | ||
5 | 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
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | IEA | -- |
GO:0016032 | viral process | IEA | -- |
GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||
SP9: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD247 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD247 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd247 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CD247 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cd247 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CD247 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CD247 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD247 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cd247 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cd247l 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
12750 | Pathogenic: Immunodeficiency due to defect in cd3-zeta | 167,439,354(-) |
TG/CA NM_000734.4(CD247):c.208_209inv (p.Gln70Trp) |
MISSENSE | |
835176 | Uncertain Significance: Immunodeficiency due to defect in cd3-zeta | 167,440,714(-) |
T/C NM_198053.3(CD247):c.112A>G (p.Ile38Val) |
MISSENSE | |
845328 | Uncertain Significance: Immunodeficiency due to defect in cd3-zeta | 167,434,082(-) |
G/T NM_198053.3(CD247):c.337-6C>A |
INTRON | |
863731 | Uncertain Significance: Immunodeficiency due to defect in cd3-zeta | 167,518,429(-) |
G/T NM_198053.3(CD247):c.37C>A (p.Gln13Lys) |
MISSENSE | |
935732 | Uncertain Significance: Immunodeficiency due to defect in cd3-zeta | 167,440,715(-) |
T/A NM_198053.3(CD247):c.111A>T (p.Gly37=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1365494 | CNV | deletion | 17803354 |
esv2665370 | CNV | deletion | 23128226 |
esv2719206 | CNV | deletion | 23290073 |
esv3587846 | CNV | loss | 21293372 |
esv3890749 | CNV | gain | 25118596 |
esv998064 | CNV | deletion | 20482838 |
nsv1078878 | OTHER | inversion | 25765185 |
nsv3432 | CNV | insertion | 18451855 |
nsv528248 | CNV | loss | 19592680 |
nsv528380 | CNV | loss | 19592680 |
nsv528710 | CNV | gain | 19592680 |
nsv831814 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency 25 |
|
|
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta |
|
|
oligoarticular juvenile idiopathic arthritis |
|
|
rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
|
|
cd3zeta deficiency |
|
|