CD63: Tetraspanin Family Member and Key Regulator of Vesicular Trafficking
A comprehensive biomedical overview of CD63, its genomic context, expression, disease associations, and functional roles.
Gene Information Card
| Symbol | CD63 |
|---|---|
| Full Name | CD63 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 967 ncbi.nlm.nih.gov/gene/967 |
| Ensembl ID | ENSG00000135404 |
| UniProt ID | P08962 |
| OMIM ID | 155740 |
| HGNC ID | 1691 |
| Aliases | ME491, MLA1, TSPAN30, LAMP-3, OMA81H |
Description
CD63 is a member of the tetraspanin family, characterized by four transmembrane domains. It is widely expressed and functions in intracellular vesicular trafficking, cell adhesion, and signal transduction. CD63 is a well-established marker of exosomes and is involved in the biogenesis of lysosome-related organelles. It plays roles in immune responses, cancer progression, and viral infection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | CD63 overexpression correlates with tumor progression and metastasis; involved in exosome-mediated intercellular communication. | PMID: 25605247; COSMIC |
| Hermansky-Pudlak syndrome (HPS) | CD63 is a component of the BLOC-1 complex; mutations disrupt lysosome-related organelle biogenesis. | OMIM #155740; PMID: 15107837 |
| Viral infection (e.g., HIV-1, HPV) | CD63 facilitates viral entry and egress by mediating endosomal trafficking and exosome release. | PMID: 21917944; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 15.3 | Medium |
| Liver | 9.8 | Low |
| Lung | 18.7 | Medium |
| Skin | 22.4 | High |
| Spleen | 14.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.1 | High expression; used in exosome studies |
| HeLa | 18.5 | High expression; associated with exosome release |
| MCF7 | 12.3 | Medium expression; breast cancer cell line |
| A375 | 25.6 | Very high expression; melanoma cell line |
| THP-1 | 15.0 | Medium expression; monocytic cell line |
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; predicted loss of function |
| c.200C>T (p.Thr67Ile) | missense | 0.02% | Unknown significance; reported in COSMIC |
| c.400G>A (p.Glu134Lys) | missense | 0.01% | Reported in melanoma; potential gain of function |
| c.500_501insA | frameshift | <0.01% | Loss of function; associated with HPS-like phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations disrupt CD63 protein expression or function, leading to impaired vesicular trafficking and lysosome-related organelle biogenesis.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu134Lys) may enhance CD63-mediated exosome release or cell adhesion, potentially promoting tumor metastasis.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for CD63.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005886 (plasma membrane) |
| • GO:0005764 (lysosome) | • GO:0016021 (integral component of membrane) |
| • GO:0006897 (endocytosis) | • GO:0030141 (secretory granule) |
| • GO:0070062 (extracellular exosome) | • GO:0007155 (cell adhesion) |
Pathways
• Exosome biogenesis and secretion (Reactome: R-HSA-2173791)
• Lysosome-related organelle biogenesis (BLOC-1 complex)
• Integrin signaling pathway (KEGG: hsa04510)
• HIV-1 life cycle (Reactome: R-HSA-162906)
Protein Summary
CD63 is a 238-amino-acid tetraspanin protein with four transmembrane domains, a small extracellular loop (SEL) and a large extracellular loop (LEL). It is heavily glycosylated and localizes to the plasma membrane, endosomes, lysosomes, and exosomes. CD63 interacts with integrins, MHC class II, and other tetraspanins, regulating cell adhesion, migration, and vesicular trafficking. It is a canonical exosome marker and is implicated in cancer, immune responses, and viral pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD63 Knockout HEK293 Cell Line | EDJ-KQ3145 | Human | 967 | Details Get a Quote |
| CD63 Knockout HeLa Cell Line | EDJ-KQ18208 | Human | 967 | Details Get a Quote |
| CD63 Knockout HCT 116 Cell Line | EDJ-KQ23152 | Human | 967 | Details Get a Quote |
| CD63 Knockout A-549 Cell Line | EDJ-KQ24536 | Human | 967 | Details Get a Quote |
| CD63 Knockout THP-1 Cell Line | EDC08232 | Human | 967 | Details Get a Quote |
| CD63 Overexpression THP-1(CD63-/-) Stable Cell Line | EDC90336 | Human | 967 | Details Get a Quote |
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