CD247 (CD247 molecule)

2007-02-01  

Identity

HGNC
LOCATION
1q24.2
LOCUSID
ALIAS
CD3-ZETA,CD3H,CD3Q,CD3Z,IMD25,T3Z,TCRZ
FUSION GENES

Other Information

Locus ID:

NCBI: 919
MIM: 186780
HGNC: 1677
Ensembl: ENSG00000198821

Variants:

dbSNP: 919
ClinVar: 919
TCGA: ENSG00000198821
COSMIC: CD247

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198821ENST00000362089P20963
ENSG00000198821ENST00000392122P20963

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Natural killer cell mediated cytotoxicityKEGGko04650
T cell receptor signaling pathwayKEGGko04660
Natural killer cell mediated cytotoxicityKEGGhsa04650
T cell receptor signaling pathwayKEGGhsa04660
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef and signal transductionREACTOMER-HSA-164944
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
TCR signalingREACTOMER-HSA-202403
Phosphorylation of CD3 and TCR zeta chainsREACTOMER-HSA-202427
Translocation of ZAP-70 to Immunological synapseREACTOMER-HSA-202430
Generation of second messenger moleculesREACTOMER-HSA-202433
Downstream TCR signalingREACTOMER-HSA-202424
Costimulation by the CD28 familyREACTOMER-HSA-388841
PD-1 signalingREACTOMER-HSA-389948
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
FCGR activationREACTOMER-HSA-2029481
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Role of phospholipids in phagocytosisREACTOMER-HSA-2029485
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198984812009Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.131
203831472010Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.125
203831472010Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.125
119508322002Regulation of T cell receptor CD3zeta chain expression by L-arginine.118
117147712001Tumor-specific T cell activation by recombinant immunoreceptors: CD3 zeta signaling and CD28 costimulation are simultaneously required for efficient IL-2 secretion and can be integrated into one combined CD28/CD3 zeta signaling receptor molecule.81
192018592009Activation of mammalian target of rapamycin controls the loss of TCRzeta in lupus T cells through HRES-1/Rab4-regulated lysosomal degradation.80
170554362006The structure of the zetazeta transmembrane dimer reveals features essential for its assembly with the T cell receptor.68
159227122004L-Arginine modulates CD3zeta expression and T cell function in activated human T lymphocytes.55
171760952006Lipid-binding activity of intrinsically unstructured cytoplasmic domains of multichain immune recognition receptor signaling subunits.52
149670452004Homooligomerization of the cytoplasmic domain of the T cell receptor zeta chain and of other proteins containing the immunoreceptor tyrosine-based activation motif.48

Citation

Dessen P

CD247 (CD247 molecule)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45961/cd247