CD226 Gene (DNAM-1)
Key immune receptor in natural killer and T cell function
Gene Information Card
| Symbol | CD226 |
|---|---|
| Full Name | CD226 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 18q22.3 |
| NCBI Gene ID | 10666 ncbi.nlm.nih.gov/gene/10666 |
| Ensembl ID | ENSG00000100030 |
| UniProt ID | Q15762 |
| OMIM ID | 605397 |
| HGNC ID | 16961 |
| Aliases | DNAM-1, PTA1, TLiSA1 |
Description
CD226 (DNAM-1) is a transmembrane glycoprotein expressed on natural killer (NK) cells, T cells, and other immune cells. It functions as an adhesion molecule and activating receptor, binding to ligands CD155 (PVR) and CD112 (PVRL2) to promote cytotoxicity, cytokine secretion, and immune synapse formation. CD226 plays critical roles in anti-tumor immunity, autoimmune regulation, and viral defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune diseases (e.g., type 1 diabetes, rheumatoid arthritis) | Altered CD226 expression or function may disrupt immune regulation, leading to aberrant T cell activation. | GWAS and functional studies (NCBI, OMIM) |
| Cancer (e.g., colorectal, melanoma) | Loss of CD226 expression on NK/T cells reduces tumor cell killing; ligand shedding by tumors impairs activation. | Expression and functional studies (NCBI, COSMIC) |
| Viral infections (e.g., HIV, influenza) | CD226-mediated NK cell activation is critical for clearance of infected cells; viral evasion strategies target this pathway. | Functional studies (NCBI, UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Blood | 8.2 | Medium |
| Bone marrow | 6.1 | Low |
| Lung | 3.4 | Low |
| Small intestine | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 15.3 | High expression; NK cell line |
| Jurkat | 9.7 | Medium; T cell line |
| K562 | 1.2 | Low; erythroleukemia line |
| HeLa | 0.8 | Low; cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs763361 (Gly307Ser) | SNP | ~30% (global) | Alters splicing and reduces CD226 expression; associated with autoimmune risk. |
| c.727C>T (Arg243*) | Nonsense | <0.1% | Premature stop; loss of function in rare individuals. |
| c.1015G>A (Val339Met) | Missense | <0.5% | Reduced ligand binding; potential impact on immune activation. |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., Arg243*) and certain missense variants (e.g., Val339Met) reduce or abolish CD226 expression or ligand binding, impairing NK/T cell activation.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for CD226.
Dominant Negative (DN)
No dominant-negative mutations described; CD226 functions as a monomeric receptor.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• Cell adhesion molecules (CAMs) (KEGG hsa04514)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
CD226 (DNAM-1) is a 336-amino acid type I transmembrane protein with two immunoglobulin-like domains in its extracellular region. It is expressed on NK cells, CD8+ T cells, and subsets of CD4+ T cells. Upon binding to its ligands CD155 and CD112, CD226 recruits intracellular signaling molecules (e.g., LFA-1, Grb2) to activate PI3K and MAPK pathways, leading to granule exocytosis and cytokine production. The protein is critical for immune surveillance against tumors and infected cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD226 Knockout HEK293 Cell Line | EDJ-KQ7125 | Human | 10666 | Details Get a Quote |
| CD226 Knockout HeLa Cell Line | EDJ-KQ55459 | Human | 10666 | Details Get a Quote |
| CD226 Knockout A-549 Cell Line | EDJ-KQ63943 | Human | 10666 | Details Get a Quote |
| CD226 Knockout HCT 116 Cell Line | EDJ-KQ72400 | Human | 10666 | Details Get a Quote |
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