CD247 (CD247 molecule)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 919
Gene name CD247 molecule
Gene symbol CD247
Synonyms (NCBI Gene)
CD3-ZETACD3HCD3QCD3ZCD3ZETAIMD25T3ZTCRZ
Chromosome 1
Chromosome location 1q24.2
Summary 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.
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CREM Repression 16237091
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
186780 1677 ENSG00000198821
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adrenocortical carcinoma, hereditary Likely pathogenic; Pathogenic rs55729925 RCV005899640
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CD247-related disorder Likely pathogenic; Pathogenic rs55729925 RCV003962333
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer Likely pathogenic; Pathogenic rs55729925 RCV005899641
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 25 Pathogenic; Likely pathogenic rs779397562, rs672601318, rs74315290, rs193922740, rs193922741, rs55729925, rs1553238837 RCV001962332
RCV000149426
RCV000013586
RCV000013588
RCV000013589
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (22)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (162)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome LHGDN 18787188
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31842801
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★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 27091408
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 17555449 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 22401598 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 27036622 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 27940592 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia BEFREE 27940592
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
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★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 17555449, 22401598, 27036622
★★★★★
★☆☆☆☆
Found in Text Mining only