CD52: A Glycoprotein Target in Immunotherapy and Lymphocyte Depletion
CD52 Gene - Function, Expression, and Clinical Relevance in Autoimmunity and Transplantation
Gene Information Card
| Symbol | CD52 |
|---|---|
| Full Name | CD52 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 1043 ncbi.nlm.nih.gov/gene/1043 |
| Ensembl ID | ENSG00000169442 |
| UniProt ID | P31358 |
| OMIM ID | 114280 |
| HGNC ID | 1804 |
| Aliases | CAMPATH-1, CDW52, HE5, EDDM5 |
Description
CD52 encodes a glycosylphosphatidylinositol (GPI)-anchored glycoprotein expressed on the surface of mature lymphocytes, monocytes, and eosinophils. The protein is a target for the therapeutic monoclonal antibody alemtuzumab (Campath-1H), used in the treatment of chronic lymphocytic leukemia (CLL) and multiple sclerosis. CD52 is also expressed in the male reproductive tract and is involved in immune regulation and cell adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic lymphocytic leukemia (CLL) | CD52 is highly expressed on malignant B cells; alemtuzumab binding induces antibody-dependent cellular cytotoxicity and complement-mediated lysis. | ClinVar, COSMIC |
| Multiple sclerosis | Alemtuzumab depletes CD52+ lymphocytes, reducing autoimmune attack on myelin. | ClinVar |
| Graft-versus-host disease | Anti-CD52 antibodies deplete donor T cells, reducing GVHD risk. | ClinVar |
| T-cell prolymphocytic leukemia | CD52 expression on malignant T cells; alemtuzumab used therapeutically. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 45.2 | High |
| Spleen | 38.7 | High |
| Blood | 32.1 | High |
| Bone marrow | 28.5 | High |
| Thymus | 25.0 | High |
| Appendix | 22.3 | Medium |
| Tonsil | 20.1 | Medium |
| Lung | 1.2 | Low |
| Liver | 0.5 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 62.4 | High expression |
| Jurkat (T-cell leukemia) | 55.8 | High expression |
| K-562 (CML) | 12.3 | Moderate expression |
| HeLa (cervical carcinoma) | 0.2 | Not detected |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Start codon loss; predicted loss of protein expression |
| c.67G>A | Missense | <0.01% | p.Gly23Arg; altered GPI anchor attachment |
| c.124C>T | Nonsense | <0.01% | p.Gln42*; premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to absent or truncated CD52 protein, reducing lymphocyte surface expression.
Gain of Function (GOF)
No gain-of-function mutations reported in CD52.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • cell surface (GO:0009986) |
| • cell adhesion (GO:0007155) | • adaptive immune response (GO:0002250) |
| • antigen binding (GO:0003823) |
Pathways
• Complement cascade (Reactome: R-HSA-166658)
• Cell surface interactions at the vascular wall (Reactome: R-HSA-202733)
Protein Summary
CD52 is a small, heavily glycosylated GPI-anchored protein of 12 amino acids after cleavage of the signal peptide. It is highly expressed on lymphocytes and is the target of alemtuzumab, a monoclonal antibody used for lymphocyte depletion in autoimmune diseases and hematologic malignancies. The protein's function is not fully understood but may involve cell adhesion and immune modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD52 Knockout HEK293 Cell Line | EDJ-KQ50183 | Human | 1043 | Details Get a Quote |
| CD52 Knockout HeLa Cell Line | EDJ-KQ52869 | Human | 1043 | Details Get a Quote |
| CD52 Knockout A-549 Cell Line | EDJ-KQ61339 | Human | 1043 | Details Get a Quote |
| CD52 Knockout HCT 116 Cell Line | EDJ-KQ69834 | Human | 1043 | Details Get a Quote |
