CD27
Chr 12ARCD27 molecule
Also known as: S152, S152. LPFS2, T14, TNFRSF7, Tp55
CD27 encodes a costimulatory immune-checkpoint receptor on T-cells, NK-cells and B-cells that binds CD70 to mediate antigen-specific T-cell activation and expansion, providing immune surveillance of B-cells. Mutations cause lymphoproliferative syndrome 2, an autosomal recessive primary immunodeficiency characterized by abnormal lymphocyte proliferation and immune dysregulation. The gene shows low constraint to loss-of-function variants (pLI 0.01, LOEUF 0.92), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
CD27 · 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
SUV PDL1/PD1 in Sun Damaged & Sun Protected Human Skin of Participants
RECRUITINGPancreatic Cancer Initial Detection Via Liquid Biopsy
ENROLLING BY INVITATIONStudy of Elranatamab for Relapsed or Refractory Myeloma in Patients Previously Exposed to Three-drug Classes
RECRUITINGSafety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)
RECRUITINGPrecision Microbiota Interventions for Senoreduction Trial
NOT YET RECRUITINGAdversity and Its Association With the Development and Expression of Rheumatic Diseases
NOT YET RECRUITINGModified Immune Cells (TAG72-CAR T Cells) for the Treatment of Patients With Platinum Resistant Epithelial Ovarian Cancer
RECRUITINGDC Migration Study to Evaluate TReg Depletion In GBM Patients With and Without Varlilumab
ACTIVE NOT RECRUITINGA Study of Apabetalone in Subjects With Long -COVID
RECRUITINGCD70.CAR for CD70+ Lymphoma, Myeloma and Solid Tumors
NOT YET RECRUITINGChimeric Antigen Receptor Treatment Targeting CD70 (SEVENTY)
NOT YET RECRUITINGMultimodal Prehabilitation Program That Combines Physical Exercise, Psychological Intervention and Nutritional Support to Improve the Response to Neoadjuvant Chemoterhapy in Early Breast Cancer Patients
RECRUITINGExternal Resources
Links to major genomics databases and tools