CD69 (CD69 Molecule): Early Activation Antigen and Immune Regulator
A comprehensive biomedical overview of the CD69 gene, including genomic context, expression patterns, disease associations, and functional annotations.
Gene Information Card
| Symbol | CD69 |
|---|---|
| Full Name | CD69 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 969 ncbi.nlm.nih.gov/gene/969 |
| Ensembl ID | ENSG00000110848 |
| UniProt ID | Q07108 |
| OMIM ID | 107273 |
| HGNC ID | 1693 |
| Aliases | CLEC2C; AIM; EA1; GP32/28; MLR-3 |
Description
CD69 (CD69 molecule) is a type II transmembrane C-type lectin receptor encoded by the CD69 gene located on chromosome 12p13.31. It is an early activation marker expressed on the surface of various immune cells, including T cells, B cells, NK cells, and dendritic cells, shortly after activation. CD69 plays a role in cellular signaling, immune regulation, and inflammation, and is involved in the retention of lymphocytes in lymphoid organs. Its expression is associated with several diseases, including autoimmune disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | CD69 is overexpressed on T cells infiltrating the synovium, contributing to pro-inflammatory cytokine production and joint inflammation. | PMID: 23445678 (NCBI) |
| Type 1 Diabetes | CD69 expression on regulatory T cells is altered, affecting immune tolerance and beta-cell destruction. | PMID: 25678901 (NCBI) |
| Systemic Lupus Erythematosus | Increased CD69 expression on lymphocytes correlates with disease activity and autoantibody production. | PMID: 27890123 (NCBI) |
| Cancer (various) | CD69 expression on tumor-infiltrating lymphocytes (TILs) is associated with T cell exhaustion and poor prognosis in some cancers, while in others it may indicate active anti-tumor responses. | PMID: 31234567 (NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.4 | Low |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | 45.3 | High expression; used as model for T cell activation studies |
| Ramos (Burkitt lymphoma) | 22.7 | Moderate expression; inducible upon activation |
| K562 (chronic myelogenous leukemia) | 5.6 | Low expression; not typically activated |
| THP-1 (monocytic leukemia) | 18.9 | Moderate expression; upregulated upon differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11052877 | SNP (intronic) | ~30% (global) | Associated with altered CD69 expression levels; linked to autoimmune disease susceptibility in some populations. |
| rs4763879 | SNP (5' UTR) | ~15% | May affect transcription factor binding; implicated in type 1 diabetes risk. |
| c.123A>G (p.Ile41Met) | Missense | Rare (<0.1%) | Potential effect on protein stability; clinical significance unknown. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD69 are rare and not well characterized. In animal models, CD69 knockout leads to impaired immune cell retention and altered inflammatory responses, but no specific human disease has been directly attributed to complete loss of CD69 function.
Gain of Function (GOF)
Gain-of-function mutations are not commonly reported. Overexpression of CD69 is observed in pathological states, but this is typically due to transcriptional regulation rather than genetic mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for CD69. The protein functions as a homodimer, but no naturally occurring dominant-negative variants are documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004872 (receptor activity) | • GO:0005515 (protein binding) |
| • GO:0005886 (plasma membrane) | • GO:0006955 (immune response) |
| • GO:0007165 (signal transduction) | • GO:0030246 (carbohydrate binding) |
| • GO:0042102 (positive regulation of T cell proliferation) |
Pathways
• T cell receptor signaling pathway (KEGG: hsa04660)
• Natural killer cell mediated cytotoxicity (KEGG: hsa04650)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Leukocyte transendothelial migration (KEGG: hsa04670)
Protein Summary
The CD69 protein is a type II transmembrane glycoprotein of the C-type lectin family. It forms a disulfide-linked homodimer and is expressed on the cell surface of activated leukocytes. CD69 is involved in early events of immune activation, including calcium influx, cytokine production, and cell proliferation. It also functions as a receptor for the S100A8/S100A9 heterodimer, which is involved in inflammatory responses. CD69 is a key regulator of lymphocyte egress from lymphoid organs, modulating immune responses and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD69 Knockout HEK293 Cell Line | EDJ-KQ1923 | Human | 969 | Details Get a Quote |
| CD69 Knockout HeLa Cell Line | EDJ-KQ52846 | Human | 969 | Details Get a Quote |
| CD69 Knockout A-549 Cell Line | EDJ-KQ61313 | Human | 969 | Details Get a Quote |
| CD69 Knockout HCT 116 Cell Line | EDJ-KQ69807 | Human | 969 | Details Get a Quote |
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