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CD247
CD247 molecule
The CD247 gene provides instructions for a protein critical to the function of T cells and natural killer cells, playing a central role in the body's immune response. The CD247 gene encodes the CD247 molecule, a key component of the T-cell receptor (TCR) complex and natural killer cell receptors.
CD247 is located on the long (q) arm of chromosome 1, at band 1q24.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The CD247 gene, also known as the CD247 molecule, is fundamental for proper immune system function. It produces a protein that is a vital element of various immune recognition receptors, including the T-cell receptor complex and certain natural killer cell receptors. This gene's product acts as an adaptor, transmitting signals from these surface receptors into the cell's interior to trigger immune responses.
What the gene does
The CD247 gene encodes a protein that functions as a transmembrane signalling subunit. This protein forms part of multi-protein receptor complexes found on immune cells [PMID:17968595]. Within T cells, it is an integral component of the T-cell receptor complex, which is crucial for identifying specific antigens presented by other cells. When antigen recognition occurs, the CD247 protein transmits vital activating signals into the T cell, initiating processes essential for immune responses, such as cell activation and proliferation [PMID:16447833]. Similarly, it participates in activating receptors on natural killer cells, mediating intracellular signals that enable these cells to target and eliminate infected or cancerous cells [PMID:22099307]. This role in signal transduction is fundamental for developing effective cellular immunity.
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Chromosome location
The CD247 gene is located on chromosome 1, specifically at position 1q24.2. This genomic address specifies its precise place on the long arm of chromosome 1.
Protein structure
The CD247 protein is composed of 164 amino acids. Its structure incorporates several crucial signalling motifs known as immunoreceptor tyrosine-based activation motifs (ITAMs). These include ITAM 1, spanning amino acids 61-89, and ITAM 2, located at amino acids 100-128. A third ITAM, ITAM 3, is found from amino acids 131-159. Note that the ITAM 2 and ITAM 3 domains show some overlap. The protein also contains disordered regions, specifically from amino acids 83-111 and 128-154, which may contribute to its flexibility and capacity for interacting with other proteins.
Key variants
Variants within the CD247 gene can influence the production or function of the CD247 protein. These genetic changes may range from single nucleotide alterations to larger structural variations, potentially affecting the protein's ability to participate in immune signalling pathways. The impact of such variants can vary significantly, from having no observable effect to altering immune cell activity.
Sample of pathogenic variants
9 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.301C>T | p.Gln101Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Immunodeficiency 25 |
g.(?_167487625)_(167487702_?)del | - | Pathogenic | ★☆☆☆ | Immunodeficiency 25 |
c.235C>T | p.Arg79Ter | Pathogenic | ★☆☆☆ | Immunodeficiency 25 |
c.51dup | p.Ile18fs | Pathogenic | ★☆☆☆ | Immunodeficiency 25 |
c.208_209inv | p.Gln70Trp | Pathogenic | - | Immunodeficiency 25 |
c.208_210delinsTAT | p.Gln70Tyr | Pathogenic | - | Immunodeficiency 25 |
c.208C>T | p.Gln70Ter | Pathogenic | - | Immunodeficiency 25 |
c.209A>T | p.Gln70Leu | Pathogenic | - | Immunodeficiency 25 |
c.2T>C | p.Met1Thr | Pathogenic | - | Immunodeficiency 25 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the CD247 gene have been associated with altered immune function. Due to its fundamental role in T-cell and natural killer cell signalling, changes in CD247 can potentially impact the body's ability to respond to infections and diseases. While no specific named associated diseases are currently listed, research continues to explore the broader implications of CD247 variants on immune health.
No disease links recorded for this gene in our reference set.
UK clinical status
In the UK, the CD247 gene is assessed within the NHS Genomic Medicine Service. It is listed on the 'COVID-19 research' panel with a 'green' status, indicating relevance for investigation. Additionally, CD247 is on the 'Primary immunodeficiency or monogenic inflammatory bowel disease (R15)' panel, also with a 'green' status, denoting its clinical utility in these areas.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Diet & lifestyle considerations
Currently, there is no conclusive evidence suggesting that specific lifestyle interventions can prevent or manage conditions directly associated with CD247 gene variants. General healthy living practices, such as a balanced diet and regular exercise, are always recommended for overall well-being.
Supplement considerations
There is no scientific evidence to support the use of specific supplements to prevent, treat, or manage conditions linked to CD247 gene variants. Individuals should consult with a healthcare professional before considering any new supplements.
Frequently asked questions
What is the primary role of the CD247 gene?
The CD247 gene encodes a protein that is a crucial component of T-cell and natural killer cell receptor complexes, essential for initiating immune signalling cascades upon antigen recognition.
How does CD247 affect immune cells?
CD247 acts as a signal transducer, transmitting activating signals from immune cell surface receptors into the cell's interior. This process is vital for the activation, proliferation, and differentiation of T cells and natural killer cells.
Are there specific conditions associated with CD247 variants?
While no specific disease name is formally associated, variants in CD247 are linked to altered immune function due to its central role in immune cell signalling, impacting how the body responds to illness.