CD247 (CD247 molecule)

2007-02-01  

Identity

HGNC
CD247
LOCATION
1q24.2
LOCUSID
919
ALIAS
CD3-ZETA,CD3H,CD3Q,CD3Z,IMD25,T3Z,TCRZ
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375673222023CD3ζ as a novel predictive biomarker of PD-1 inhibitor resistance in melanoma.0
375673222023CD3ζ as a novel predictive biomarker of PD-1 inhibitor resistance in melanoma.0
339023752022CD3Z polymorphisms and promoter hypermethylation in dermatomyositis - the role of cytosine-phosphate-guanine-related single nucleotide polymorphisms.0
352891162022CD24 is a surrogate for 'immune-cold' phenotype in aggressive large B-cell lymphoma.7
353203452022The CD3ζ adaptor structure determines functional differences between human and mouse CD16 Fc receptor signaling.9
353986682022Phenotypic and molecular states of IDH1 mutation-induced CD24-positive glioma stem-like cells.8
339023752022CD3Z polymorphisms and promoter hypermethylation in dermatomyositis - the role of cytosine-phosphate-guanine-related single nucleotide polymorphisms.0
352891162022CD24 is a surrogate for 'immune-cold' phenotype in aggressive large B-cell lymphoma.7
353203452022The CD3ζ adaptor structure determines functional differences between human and mouse CD16 Fc receptor signaling.9
353986682022Phenotypic and molecular states of IDH1 mutation-induced CD24-positive glioma stem-like cells.8
335781812021CD3E as a new predictive biomarker of response to omalizumab treatment in asthma patients: Evidence from bioinformatic analysis.6
339255302021In Vitro Characterization of Human CD24(hi)CD38(hi) Regulatory B Cells Shows CD9 Is Not a Stable Breg Cell Marker.2
346233222021TREM-2 promotes Th1 responses by interacting with the CD3ζ-ZAP70 complex following Mycobacterium tuberculosis infection.12
348808612021CD247, a Potential T Cell-Derived Disease Severity and Prognostic Biomarker in Patients With Idiopathic Pulmonary Fibrosis.8
335781812021CD3E as a new predictive biomarker of response to omalizumab treatment in asthma patients: Evidence from bioinformatic analysis.6

Citation

Dessen P

CD247 (CD247 molecule)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45961/img/gene-fusions/favicon/teaching-explorer/