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CD96
CD96 molecule
The CD96 gene, also known as CD96 molecule, provides instructions for making a protein primarily involved in modulating immune cell activity and communication. The CD96 gene plays a key role in the immune system by producing a transmembrane glycoprotein that influences the function of various immune cells.
CD96 is located on the long (q) arm of chromosome 3, at band 3q13.13-q13.2. Arm ratio per GRCh38 - banding schematic.
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Overview
The CD96 gene encodes a cell surface receptor identified as CD96, which is integral to the proper functioning of the immune system. This protein is a member of the immunoglobulin (Ig) superfamily and plays a significant role in regulating the activity of immune cells, including natural killer (NK) cells and T cells.
CD96 acts as an adhesion molecule during immune responses, mediating interactions between cells and influencing immune cell activation, proliferation, and cytotoxicity. Understanding the CD96 gene and its protein product is important for unravelling the complexities of immune regulation and its involvement in various physiological and pathological processes.
What the gene does
The protein encoded by the CD96 gene is a transmembrane glycoprotein that serves as a receptor on the surface of several immune cell types, notably natural killer (NK) cells and T lymphocytes. Its primary function involves mediating cell adhesion and signalling, which are crucial for orchestrating immune responses. The CD96 protein interacts with other cell surface molecules, such as CD155 (PVR) and CD112 (nectin-2), participating in direct cell-to-cell communication.
Through these interactions, CD96 can deliver inhibitory or activating signals that modulate the effector functions of immune cells. For instance, in NK cells, CD96 can influence their ability to detect and eliminate abnormal cells, including those infected with viruses or tumour cells. In T cells, CD96 signalling can impact their activation threshold and cytokine production, thereby shaping adaptive immune responses.
This intricate signalling role means that CD96 contributes to the fine-tuning of immune surveillance and the overall balance between immune activation and tolerance. Its involvement in both innate and adaptive immunity highlights its broad significance in maintaining immune homeostasis.
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Chromosome location
The CD96 gene is located on chromosome 3, specifically within the long (q) arm. Its precise chromosomal position is designated as 3q13.13-q13.2. This region contains genetic material that contributes to the synthesis of the CD96 protein. The specific arrangement of genes within this chromosomal segment is critical for their correct expression and function.
Protein structure
The CD96 protein, spanning 585 amino acids, is characterised by several distinct domains that contribute to its function as a cell surface receptor. The extracellular portion of the protein contains three immunoglobulin (Ig)-like domains. Starting from the N-terminus, there is an Ig-like V-type 1 domain, located between amino acids 38 and 125, followed by a second Ig-like V-type 2 domain from amino acids 156 to 238. Further towards the cell membrane, an Ig-like C2-type domain is present, situated between amino acids 269 and 375. These Ig-like domains are crucial for mediating interactions with other molecules on cell surfaces. Internally, a Disordered region is identified between amino acids 385 and 475, which often suggests roles in molecular recognition, signalling, or regulation due to its conformational flexibility.
Key variants
Genetic variations, or alterations, within the CD96 gene can potentially influence the structure or function of the CD96 protein. These variations can range from single nucleotide changes to larger structural rearrangements. The impact of a specific variant depends on its location within the gene and how it alters the protein's ability to maintain its normal function, such as mediating immune cell interactions and signalling. Research is ongoing to fully understand how different CD96 gene variants may affect immune responses and overall health.
Sample of pathogenic variants
6 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 |
|---|---|---|---|---|
46,XY t(3;18)(q13.13;q12.1) | - | Pathogenic | - | C syndrome |
c.791C>T | p.Thr264Met | Pathogenic | - | C syndrome |
c.1321+1G>A | - | Likely pathogenic | ★☆☆☆ | C syndrome |
c.807+2T>A | - | Likely pathogenic | ★☆☆☆ | C syndrome |
c.1199C>G | p.Ser400Ter | Likely pathogenic | - | C syndrome |
c.537del | p.Trp179fs | Likely pathogenic | - | C syndrome |
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
Currently, there are no specific inherited conditions or diseases definitively associated with variants in the CD96 gene that are listed in the provided data. Research continues to explore the potential roles of CD96 in various health contexts, particularly in relation to immune system function and disease susceptibility. Further studies may reveal associations between CD96 and clinical conditions.
No disease links recorded for this gene in our reference set.
UK clinical status
Diet & lifestyle considerations
General research suggests that a balanced lifestyle, including adequate nutrition, regular physical activity, and sufficient sleep, supports overall immune system health. While specific lifestyle interventions directly targeting the CD96 gene or its protein function are not known, maintaining a healthy lifestyle generally contributes to a robust immune response. This can indirectly support processes where CD96 plays a role, such as immune cell communication and regulation.
Supplement considerations
There is no conclusive evidence to suggest that any specific dietary supplements can prevent, treat, or directly influence the function of the CD96 gene or its associated pathways. Individuals considering supplements should consult with a healthcare provider to discuss their suitability and potential interactions with other medications or health conditions.
Frequently asked questions
What is the primary function of the CD96 gene?
The CD96 gene provides instructions for making the CD96 protein, which acts as a cell surface receptor on immune cells like NK cells and T cells. It mediates cell-to-cell adhesion and signalling, modulating immune responses.
Where is the CD96 gene located in the human genome?
The CD96 gene is situated on chromosome 3. Its specific location is on the long arm of chromosome 3, within the region designated as 3q13.13-q13.2.
What are the main structural features of the CD96 protein?
The CD96 protein is composed of 585 amino acids and features three immunoglobulin (Ig)-like domains in its extracellular region: an Ig-like V-type 1 domain, an Ig-like V-type 2 domain, and an Ig-like C2-type domain. It also contains an intracellular disordered region.
Are there any known diseases specifically linked to CD96 gene variants?
Based on current information, no specific inherited conditions or diseases are definitively linked to variants in the CD96 gene. Ongoing research continues to investigate its potential roles in various health conditions.
Can lifestyle or supplements affect the CD96 gene?
While no specific lifestyle factors or supplements are known to directly target the CD96 gene, a healthy lifestyle generally supports overall immune system function. Consult a healthcare provider before taking any supplements.