CD247
T-cell surface glycoprotein CD3 zeta chain
Also known as: CD3-ZETA, CD3H, CD3Q, CD3Z, CD3Z_HUMAN, CD3ZETA, TCRZ
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P20963
- Gene
- CD247
- Ensembl
- ENSG00000198821
- Chromosome
- 1
- Canonical length
- 164 aa
- Protein class
- CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI 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 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]
Canonical amino-acid sequenceUniProt
164 residues, UniProt reviewed canonical sequence.
>P20963|CD247
1 MKWKALFTAA ILQAQLPITE AQSFGLLDPK LCYLLDGILF IYGVILTALF LRVKFSRSAD
61 APAYQQGQNQ LYNELNLGRR EEYDVLDKRR GRDPEMGGKP QRRKNPQEGL YNELQKDKMA
121 EAYSEIGMKG ERRRGKGHDG LYQGLSTATK DTYDALHMQA LPPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CD247 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.64
- Highest tissue expression
- 150 nTPM
Expression across tissuesHPA
Tissue
- thymus: 150 nTPM
- lymph node: 48 nTPM
- spleen: 39 nTPM
- bone marrow: 38 nTPM
- tonsil: 30 nTPM
- appendix: 22 nTPM
Single-cell type
- nk-cells: 2,151 nCPM
- t-cells: 627 nCPM
- innate lymphoid cells: 191 nCPM
- thymocytes: 42 nCPM
- epididymal principal cells: 38 nCPM
- cardiomyocytes: 34 nCPM
Immune cell
- gdT-cell: 337 nTPM
- T-reg: 243 nTPM
- naive CD4 T-cell: 228 nTPM
- total PBMC: 218 nTPM
- NK-cell: 213 nTPM
- memory CD8 T-cell: 206 nTPM
Brain region
- cerebral cortex: 2.6 nTPM
- thalamus: 2.4 nTPM
- basal ganglia: 2.1 nTPM
- white matter: 2.1 nTPM
- amygdala: 1.9 nTPM
- cerebellum: 1.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CD247.
Disease | AllUniProt
Conditions CD247 is implicated in, by any mechanism.
- Immunodeficiency 25 (IMD25) MIM:610163
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 203 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Immunodeficiency 25
- CD247-related disorder
- Severe combined immunodeficiency disease
- Cervical cancer
- Adrenocortical carcinoma, hereditary
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.82
- gnomAD pLI
- 0.02
- gnomAD missense Z
- -0.31
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive immune response
- alpha-beta T cell activation
- cell surface receptor signaling pathway
- Fc-gamma receptor signaling pathway
- gamma-delta T cell activation
- positive regulation of protein localization to cell surface
- protein complex oligomerization
- protein-containing complex assembly
- T cell receptor signaling pathway
Molecular functions
- identical protein binding
- protein heterodimerization activity
- protein homodimerization activity
- protein tyrosine kinase binding
- protein-macromolecule adaptor activity
- transmembrane signaling receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CD247 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CD247 as an antibody target. Whether an autoantibody or antibody against CD247 could matter depends on whether native CD247 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CD247 is annotated at the cell surface, where native CD247 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CD247 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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