CD247
CD247 Molecule (T-Cell Receptor Zeta Subunit)
Gene Information Card
| Symbol | CD247 |
|---|---|
| Full Name | CD247 Molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 919 ncbi.nlm.nih.gov/gene/919 |
| Ensembl ID | ENSG00000198821 |
| UniProt ID | P20963 |
| OMIM ID | 186780 |
| HGNC ID | 1677 |
| Aliases | CD3Z, TCRZ, CD3H, CD3Q, T3Z, IMD25 |
Description
CD247 encodes the T-cell receptor zeta (TCRζ) chain, a transmembrane protein essential for T-cell receptor (TCR) complex assembly and signal transduction. The zeta chain contains immunoreceptor tyrosine-based activation motifs (ITAMs) that recruit ZAP70 upon TCR engagement, initiating downstream signaling critical for T-cell development and activation. Mutations in CD247 cause severe combined immunodeficiency (SCID) and have been implicated in autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive | Loss-of-function mutations impair TCR signaling, blocking T-cell maturation | PMID: 10631119, OMIM #186780 |
| Systemic lupus erythematosus (SLE) | Reduced CD247 expression leads to altered TCR signaling and autoantibody production | PMID: 15356110, ClinVar |
| Rheumatoid arthritis | Decreased CD247 expression in synovial T cells correlates with disease activity | PMID: 12469122 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 89.5 nTPM | High |
| Spleen | 78.2 nTPM | High |
| Thymus | 65.1 nTPM | High |
| Blood | 42.3 nTPM | Medium |
| Bone marrow | 15.6 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 120.5 nTPM | High expression; model for TCR signaling |
| Raji (Burkitt lymphoma) | 2.1 nTPM | Very low; B-cell line |
| HEK293 (embryonic kidney) | 0.8 nTPM | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92*) | Nonsense | Rare | Premature stop; loss of ITAM domains; SCID |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; SCID |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Impaired ZAP70 binding; reduced signaling |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg92*) abolish protein function, causing SCID.
Gain of Function (GOF)
Not reported in CD247.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly168Arg) may interfere with wild-type zeta chain assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T cell receptor signaling pathway (KEGG hsa04660)
• PD-1 signaling (Reactome R-HSA-389948)
• Costimulation by the CD28 family (Reactome R-HSA-388841)
Protein Summary
The CD247 protein (TCRζ) is a 164-amino-acid transmembrane protein with three ITAM motifs in its cytoplasmic tail. It forms homodimers that associate non-covalently with the TCRαβ heterodimer and CD3γδε subunits. Upon antigen recognition, ITAM tyrosines are phosphorylated by Lck, recruiting ZAP70 to propagate signals for T-cell proliferation, cytokine production, and effector functions. Defects in CD247 lead to immunodeficiency or autoimmunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD247 Knockout HEK293 Cell Line | EDJ-KQ2709 | Human | 919 | Details Get a Quote |
| CD247 Knockout HeLa Cell Line | EDJ-KQ52815 | Human | 919 | Details Get a Quote |
| CD247 Knockout A-549 Cell Line | EDJ-KQ61286 | Human | 919 | Details Get a Quote |
| CD247 Knockout HCT 116 Cell Line | EDJ-KQ69781 | Human | 919 | Details Get a Quote |
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