MS4A1 (CD20): B-Cell Marker and Therapeutic Target
A comprehensive biomedical overview of the MS4A1 gene, encoding the CD20 protein, a key B-cell surface antigen and target for immunotherapy.
Gene Information Card
| Symbol | MS4A1 |
|---|---|
| Full Name | Membrane Spanning 4-Domains A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 931 ncbi.nlm.nih.gov/gene/931 |
| Ensembl ID | ENSG00000156738 |
| UniProt ID | P11836 |
| OMIM ID | 112210 |
| HGNC ID | 7315 |
| Aliases | CD20, B1, Bp35, MS4A2, S7 |
Description
The MS4A1 gene encodes the CD20 protein, a B-lymphocyte-specific membrane-spanning protein that plays a critical role in B-cell development, differentiation, and activation. CD20 is a well-established biomarker for B-cell lineage and is the target of several therapeutic monoclonal antibodies, including rituximab, used in the treatment of B-cell malignancies and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell non-Hodgkin lymphoma | CD20 is expressed on malignant B cells; anti-CD20 antibodies induce cell death via ADCC, CDC, and direct apoptosis. | High expression in most B-cell lymphomas; therapeutic efficacy of rituximab well-documented. |
| Chronic lymphocytic leukemia (CLL) | CD20 expression is lower in CLL compared to normal B cells, but still a target for therapy. | Rituximab and obinutuzumab are used in CLL treatment. |
| Rheumatoid arthritis | CD20-positive B cells contribute to autoimmunity; depletion reduces disease activity. | Rituximab is approved for RA treatment. |
| Multiple sclerosis | B cells play a role in pathogenesis; CD20 depletion reduces relapses. | Ocrelizumab and ofatumumab target CD20 in MS. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | High | High expression in B-cell-rich tissues. |
| Spleen | High | High expression in B-cell areas. |
| Bone marrow | Medium | Expression in B-cell precursors and mature B cells. |
| Peripheral blood | Medium | Expression on circulating B cells. |
| Other tissues | Low | Minimal expression outside lymphoid tissues. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ramos (Burkitt lymphoma) | High | B-cell line with high CD20 expression. |
| Daudi (Burkitt lymphoma) | High | B-cell line with high CD20 expression. |
| Raji (Burkitt lymphoma) | High | B-cell line with high CD20 expression. |
| Jurkat (T-cell leukemia) | Low | T-cell line with negligible CD20 expression. |
| HeLa (cervical carcinoma) | Low | Non-B-cell line with minimal expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.943C>T (p.Arg315Ter) | Nonsense | Rare | Loss of function; may affect CD20 expression. |
| c.1120G>A (p.Gly374Ser) | Missense | Rare | Unknown functional impact. |
| c.1246A>G (p.Ile416Val) | Missense | Rare | Unknown functional impact. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations may reduce CD20 surface expression, potentially affecting antibody binding and therapy efficacy.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MS4A1.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 - plasma membrane | • GO:0005515 - protein binding |
| • GO:0008289 - lipid binding | • GO:0042102 - positive regulation of B cell proliferation |
| • GO:0030183 - B cell differentiation |
Pathways
• B cell receptor signaling pathway
• CD20-mediated signaling
• Antibody-dependent cellular cytotoxicity (ADCC)
• Complement-dependent cytotoxicity (CDC)
Protein Summary
CD20 is a 33-37 kDa non-glycosylated phosphoprotein with four transmembrane domains. It forms homo-oligomers and functions as a calcium channel, regulating B-cell activation and proliferation. CD20 is expressed on the surface of mature B cells but is lost upon differentiation into plasma cells. Its precise physiological function remains incompletely understood, but it is essential for optimal B-cell immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MS4A12 Knockout HEK293 Cell Line | EDJ-KQ2348 | Human | 54860 | Details Get a Quote |
| MS4A15 Knockout HEK293 Cell Line | EDJ-KQ8483 | Human | 219995 | Details Get a Quote |
| MS4A10 Knockout HEK293 Cell Line | EDJ-KQ8592 | Human | 341116 | Details Get a Quote |
| MS4A14 Knockout HEK293 Cell Line | EDJ-KQ10162 | Human | 84689 | Details Get a Quote |
| MS4A13 Knockout HEK293 Cell Line | EDJ-KQ14314 | Human | 503497 | Details Get a Quote |
| MS4A18 Knockout HEK293 Cell Line | EDJ-KQ14315 | Human | 728588 | Details Get a Quote |
| MS4A1 Knockout HEK293 Cell Line | EDJ-KQ17678 | Human | 931 | Details Get a Quote |
| MS4A15 Knockout HCT 116 Cell Line | EDJ-KQ34598 | Human | 219995 | Details Get a Quote |
| MS4A1 Knockout HeLa Cell Line | EDJ-KQ52824 | Human | 931 | Details Get a Quote |
| MS4A12 Knockout HeLa Cell Line | EDJ-KQ56491 | Human | 54860 | Details Get a Quote |
| MS4A14 Knockout HeLa Cell Line | EDJ-KQ57646 | Human | 84689 | Details Get a Quote |
| MS4A15 Knockout HeLa Cell Line | EDJ-KQ59128 | Human | 219995 | Details Get a Quote |
| MS4A10 Knockout HeLa Cell Line | EDJ-KQ59701 | Human | 341116 | Details Get a Quote |
| MS4A13 Knockout HeLa Cell Line | EDJ-KQ60488 | Human | 503497 | Details Get a Quote |
| MS4A1 Knockout A-549 Cell Line | EDJ-KQ61294 | Human | 931 | Details Get a Quote |
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