CD247 (CD247 molecule)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
919
Gene name Gene Name - the full gene name approved by the HGNC.
CD247 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD247
Synonyms (NCBI Gene) Gene synonyms aliases
CD3-ZETA, CD3H, CD3Q, CD3Z, CD3ZETA, IMD25, T3Z, TCRZ
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs55729925 G>A,T Pathogenic, pathogenic-likely-pathogenic Stop gained, coding sequence variant, intron variant, missense variant
rs74315290 G>A Pathogenic Stop gained, coding sequence variant
rs193922740 T>A,G Pathogenic Missense variant, coding sequence variant
rs193922741 CTG>ATA Pathogenic Missense variant, coding sequence variant
rs672601318 A>G Pathogenic Initiator codon variant, missense variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT004233 hsa-miR-346 Microarray 16822819
MIRT2446555 hsa-miR-1224-3p CLIP-seq
MIRT2446556 hsa-miR-331-3p CLIP-seq
MIRT2446557 hsa-miR-4707-3p CLIP-seq
MIRT2446558 hsa-miR-4725-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
CREM Repression 16237091
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response NAS 29789755, 30976362
GO:0002376 Process Immune system process IEA
GO:0004888 Function Transmembrane signaling receptor activity IC 9485181
GO:0004888 Function Transmembrane signaling receptor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
186780 1677 ENSG00000198821
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P20963
Protein name T-cell surface glycoprotein CD3 zeta chain (T-cell receptor T3 zeta chain) (CD antigen CD247)
Protein function Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell
PDB 1TCE , 1YGR , 2HAC , 2OQ1 , 3IK5 , 3IOZ , 4XZ1 , 6JXR , 7FJD , 7FJE , 7FJF , 7PHR , 8ES7 , 8ES8 , 8ES9 , 8J8I , 8JC0 , 8JCB , 8TW4 , 8TW6 , 8WXE , 8WY0 , 8WYI , 8YC0 , 9BBC , 9C3E , 9CI8 , 9CIA , 9CQ4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11628 TCR_zetazeta 28 → 58 T-cell surface glycoprotein CD3 zeta chain Family
PF02189 ITAM 69 → 88 Immunoreceptor tyrosine-based activation motif Motif
PF02189 ITAM 108 → 128 Immunoreceptor tyrosine-based activation motif Motif
PF02189 ITAM 139 → 158 Immunoreceptor tyrosine-based activation motif Motif
Tissue specificity TISSUE SPECIFICITY: CD3Z is expressed in normal lymphoid tissue and in peripheral blood mononuclear cells (PBMCs) (PubMed:11722641). {ECO:0000269|PubMed:11722641}.
Sequence 
MKWKALFTAAILQAQLPITEAQSFGLLDPKLCYLLDGILFIYGVILTALFLRVKFSRSAD
APAYQQGQNQLYNELNLGRREEYDVLDKRRGRDPEMGGKPQRRKNPQEGLYNELQKDKMA
EAYSEIGMKGERRRGKGHDGLYQGLSTATKDTYDALHMQALPPR
Sequence length 164
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Chagas disease
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer 		  Nef and signal transduction
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
FCGR activation
Regulation of actin dynamics for phagocytic cup formation
Role of phospholipids in phagocytosis
PD-1 signaling
FCGR3A-mediated IL10 synthesis
FCGR3A-mediated phagocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 25 rs74315290, rs193922740, rs193922741, rs672601318, rs55729925, rs1553238837 N/A
severe combined immunodeficiency disease Severe combined immunodeficiency disease rs55729925 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma in any disease, Asthma, Atopic asthma, Asthma (adult onset), Asthma (childhood onset), Asthma (moderate or severe), Age of onset of adult onset asthma, Age of onset of childhood onset asthma N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Show/Hide Text Mining Associations (100)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32509861
Adenocarcinoma of Lung Associate 29555781
Anemia Aplastic Inhibit 17555449
Anemia Aplastic Stimulate 22401598
Anemia Aplastic Associate 27036622
Anemia Hemolytic Inhibit 27940592
Arthritis Juvenile Associate 22294642
Arthritis Rheumatoid Inhibit 10759780
Arthritis Rheumatoid Associate 27118209, 9519864
Ascites Associate 20032419