CD2 (T-cell surface antigen CD2) variants and mutations

CD2 (also known as T-cell surface antigen CD2) is a human protein-coding gene encoding a t-cell surface antigen protein. It strengthens adhesion and signaling between T cells or natural-killer cells and antigen-presenting target cells through interactions including CD58. Altered expression affects lymphocyte activation and is also used diagnostically and therapeutically in selected hematologic diseases. This analysis covers 685 CD2 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes hypothyroidism, rheumatoid arthritis, and Graves disease. Example CD2 variants include S2R, S2S, and F3C.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CD2 variants

Examples include S2R, S2S, F3C, F3S, P4L, P4P, C5Y, C5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.