CD53: Tetraspanin Family Member, Immune Cell Marker
A comprehensive biomedical resource on CD53 gene, protein, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CD53 |
|---|---|
| Full Name | CD53 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 963 ncbi.nlm.nih.gov/gene/963 |
| Ensembl ID | ENSG00000143119 |
| UniProt ID | P19397 |
| OMIM ID | 151525 |
| HGNC ID | 1686 |
| Aliases | MOX44, TSPAN25 |
Description
CD53 is a member of the tetraspanin family, characterized by four transmembrane domains. It is expressed predominantly on leukocytes and plays a role in signal transduction, cell adhesion, and immune regulation. CD53 is involved in the formation of membrane microdomains and interacts with integrins and other surface receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency due to CD53 deficiency | Loss-of-function mutations impair immune cell signaling and adhesion | PMID: 32888943, ClinVar |
| B-cell non-Hodgkin lymphoma | Altered CD53 expression may contribute to tumor immune evasion | PMID: 25428262, COSMIC |
| Systemic lupus erythematosus | CD53 polymorphisms associated with increased risk | PMID: 23434563, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 58.2 | High |
| Lymph node | 45.1 | High |
| Bone marrow | 32.8 | Medium |
| Blood | 28.5 | Medium |
| Lung | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (B-lymphoblastoid) | 62.4 | High expression |
| Jurkat (T-cell) | 55.1 | High expression |
| THP-1 (monocyte) | 48.7 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199C>T (p.Arg67Trp) | Missense | <0.01% | Loss of function; associated with immunodeficiency |
| c.334G>A (p.Gly112Ser) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair CD53 protein expression or function, leading to defective immune cell signaling and adhesion.
Gain of Function (GOF)
No gain-of-function mutations reported in CD53.
Dominant Negative (DN)
No dominant-negative mutations reported in CD53.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Tetraspanin-enriched microdomain (TEM) formation (Reactome: R-HSA-2172127)
• Immune system (Reactome: R-HSA-168256)
Protein Summary
CD53 is a 219-amino-acid tetraspanin protein with four transmembrane domains, a small extracellular loop (SEL) and a large extracellular loop (LEL). It localizes to the plasma membrane and is involved in organizing membrane microdomains that facilitate immune receptor clustering and signaling. CD53 interacts with integrins, MHC class II molecules, and other tetraspanins to modulate cell adhesion, migration, and activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD53 Knockout HEK293 Cell Line | EDJ-KQ4223 | Human | 963 | Details Get a Quote |
| CD53 Knockout HeLa Cell Line | EDJ-KQ52844 | Human | 963 | Details Get a Quote |
| CD53 Knockout A-549 Cell Line | EDJ-KQ61311 | Human | 963 | Details Get a Quote |
| CD53 Knockout HCT 116 Cell Line | EDJ-KQ69805 | Human | 963 | Details Get a Quote |
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