CD69
Chr 12CD69 molecule
Also known as: AIM, BL-AC/P26, CLEC2C, EA1, GP32/28, MLR-3
The CD69 protein is a transmembrane receptor that regulates immune cell homeostasis by controlling T-cell differentiation, promoting regulatory T-cell conversion, and modulating inflammatory responses in various immune cell types including T-lymphocytes, NK cells, and platelets. Based on current medical literature, pathogenic mutations in CD69 have not been definitively associated with recognized human genetic diseases. The gene shows tolerance to loss-of-function variants (pLI = 0.03, LOEUF = 0.92), suggesting that complete loss of CD69 function may not cause severe developmental disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CD69 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Adenovirus Mediated Suicide Gene Therapy With Radiotherapy in Progressive Astrocytoma.
RECRUITINGStudy of the Immunomodulation in the Hidradenitis Suppurativa and Evaluation of a New Therapeutic Strategy
NOT YET RECRUITINGResidual Disease MEMory in PSOriasis Skin During EnstiLAR® and Narrow-band Ultraviolet B Therapy: The MEMPSOLAR Study
ACTIVE NOT RECRUITINGCrosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children
RECRUITINGAn Open-Label Phase II Study of Nivolumab or Nivolumab/Ipilimumab in Adult Participants With Progessive/ Recurrent Meningioma
ACTIVE NOT RECRUITINGEvaluating the Impact of GLP-1 Receptor Agonists With Total Neoadjuvant Therapy in Rectal Cancer
NOT YET RECRUITINGPain in Endometriosis And the Relation to Lifestyle
RECRUITINGPhase 2a Trial to Evaluate Safety and Immunogenicity of COVID-19 Vaccine Strategies in HIV-infected/Uninfected Adults.
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools