MS4A4A Gene - Membrane Spanning 4-Domains A4A
MS4A4A: A tetraspanin-like protein involved in immune regulation and cancer
Gene Information Card
| Symbol | MS4A4A |
|---|---|
| Full Name | Membrane Spanning 4-Domains A4A |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 51338 ncbi.nlm.nih.gov/gene/51338 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q96JQ5 |
| OMIM ID | 608402 |
| HGNC ID | 13375 |
| Aliases | CD20-L1, MS4A4, C20orf207 |
Description
MS4A4A (Membrane Spanning 4-Domains A4A) is a protein-coding gene belonging to the MS4A family, which includes CD20 (MS4A1). The encoded protein is a tetraspanin-like molecule with four transmembrane domains, predominantly expressed in immune cells. It functions as a component of signaling complexes involved in B-cell activation, calcium mobilization, and immune modulation. MS4A4A has been implicated in autoimmune diseases and various cancers, where its expression correlates with tumor progression and prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of MS4A4A in tumor-associated macrophages promotes immune evasion and correlates with poor prognosis | PMID: 31570877 |
| Colorectal cancer | MS4A4A expression on macrophages is associated with tumor progression and metastasis | PMID: 32015547 |
| Systemic lupus erythematosus | MS4A4A polymorphisms linked to altered B-cell signaling and autoantibody production | PMID: 25605269 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 3.1 | Low |
| Colon | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.3 | High expression |
| Raji (B-lymphoblast) | 12.1 | High expression |
| MCF7 (breast cancer) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.763C>T (p.Arg255Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MS4A4A.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MS4A4A.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in MS4A4A.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • protein binding (GO:0005515) | • signal transduction (GO:0007165) |
| • B cell differentiation (GO:0030183) |
Pathways
• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• CD20-like family signaling (Reactome: R-HSA-983712)
Protein Summary
The MS4A4A protein is a 4-transmembrane domain protein (tetraspanin-like) localized to the plasma membrane. It shares structural homology with CD20 (MS4A1) and is involved in B-cell receptor signaling and calcium flux. The protein is expressed predominantly in immune cells, including B cells and macrophages, and plays a role in immune modulation. Its expression is dysregulated in several cancers, where it may contribute to tumor immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MS4A4A Knockout HEK293 Cell Line | EDJ-KQ2296 | Human | 51338 | Details Get a Quote |
| MS4A4A Knockout HeLa Cell Line | EDJ-KQ56291 | Human | 51338 | Details Get a Quote |
| MS4A4A Knockout A-549 Cell Line | EDJ-KQ64780 | Human | 51338 | Details Get a Quote |
| MS4A4A Knockout HCT 116 Cell Line | EDJ-KQ73229 | Human | 51338 | Details Get a Quote |
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