CD48: A Key Immune Cell Surface Receptor
CD48 Gene - Structure, Function, and Clinical Significance
Gene Information Card
| Symbol | CD48 |
|---|---|
| Full Name | CD48 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 962 ncbi.nlm.nih.gov/gene/962 |
| Ensembl ID | ENSG00000117091 |
| UniProt ID | P09326 |
| OMIM ID | 109530 |
| HGNC ID | 1683 |
| Aliases | SLAMF2, BLAST-1, BCM1, MEM-102 |
Description
CD48 (SLAMF2) is a member of the signaling lymphocyte activation molecule (SLAM) family. It encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein expressed on hematopoietic cells. CD48 functions as a co-stimulatory molecule in immune responses, interacting with CD2 and 2B4 (CD244) to regulate T cell, NK cell, and myeloid cell activation. It is involved in cell adhesion, cytokine production, and cytotoxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paroxysmal nocturnal hemoglobinuria (PNH) | Deficiency of GPI-anchored proteins including CD48 due to PIGA mutation leads to loss of CD48 on blood cells. | ClinVar, OMIM |
| Lymphoma (e.g., Hodgkin, diffuse large B-cell) | Overexpression of CD48 on malignant B cells may promote immune evasion by engaging inhibitory receptors on NK cells. | COSMIC, NCBI PubMed |
| Autoimmune lymphoproliferative syndrome (ALPS) | Altered CD48 expression contributes to defective lymphocyte apoptosis and immune dysregulation. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 24.3 | High |
| Spleen | 22.1 | High |
| Bone marrow | 18.7 | High |
| Blood | 15.2 | Medium |
| Lung | 6.8 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 28.5 | B-cell line, high expression |
| Jurkat (T-cell leukemia) | 19.4 | T-cell line, moderate expression |
| K-562 (chronic myeloid leukemia) | 12.1 | Myeloid line, moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Non-hematopoietic, very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, reduced protein expression |
| c.200C>T (p.Thr67Ile) | missense | 0.02% | Altered ligand binding affinity |
| c.400_402del (p.Lys134del) | in-frame deletion | <0.01% | Disrupts GPI anchor attachment |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting GPI anchor synthesis or start codon lead to reduced or absent CD48 surface expression, impairing immune cell signaling.
Gain of Function (GOF)
Not well documented; overexpression in certain lymphomas may enhance inhibitory signaling.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SLAM family signaling pathway (Reactome: R-HSA-2132295)
• Natural killer cell mediated cytotoxicity (KEGG: hsa04650)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
CD48 is a 27 kDa GPI-anchored glycoprotein (UniProt P09326) with a single Ig-like domain. It is expressed predominantly on hematopoietic cells and serves as a ligand for CD2 and 2B4 (CD244). CD48 modulates T cell activation, NK cell cytotoxicity, and cytokine production. Its expression is frequently altered in hematologic malignancies and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD48 Knockout HEK293 Cell Line | EDJ-KQ17741 | Human | 962 | Details Get a Quote |
| CD48 Knockout HeLa Cell Line | EDJ-KQ52843 | Human | 962 | Details Get a Quote |
| CD48 Knockout A-549 Cell Line | EDJ-KQ61310 | Human | 962 | Details Get a Quote |
| CD48 Knockout HCT 116 Cell Line | EDJ-KQ69804 | Human | 962 | Details Get a Quote |
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