CD5 Gene (CD5 Molecule): Structure, Function, and Clinical Significance
A comprehensive guide to the CD5 gene, its protein product, expression patterns, associated diseases, and mutations, with curated references from authoritative databases.
Gene Information Card
| Symbol | CD5 |
|---|---|
| Full Name | CD5 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 921 ncbi.nlm.nih.gov/gene/921 |
| Ensembl ID | ENSG00000132561 |
| UniProt ID | P06127 |
| OMIM ID | 153340 |
| HGNC ID | 1685 |
| Aliases | T1; LEU1; Ly-1; Lyt-1 |
Description
The CD5 gene encodes the CD5 protein, a type I transmembrane glycoprotein belonging to the scavenger receptor cysteine-rich (SRCR) superfamily. CD5 is expressed on the surface of T cells, a subset of B cells (B-1a cells), and some immune cells. It functions as a co-receptor modulating T and B cell receptor signaling, playing a role in immune tolerance and autoimmunity. CD5 is also a well-known biomarker for T-cell lymphomas and chronic lymphocytic leukemia (CLL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic lymphocytic leukemia (CLL) | CD5 is aberrantly expressed on malignant B cells; it contributes to tumor cell survival by modulating B cell receptor signaling and promoting resistance to apoptosis. | Expression studies and clinical diagnostics (e.g., flow cytometry) confirm CD5 positivity in CLL. |
| T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) | CD5 is expressed on malignant T cells; it may enhance oncogenic signaling pathways, though the exact mechanism is still under investigation. | Immunophenotyping of T-ALL shows CD5 expression in a majority of cases. |
| Autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus) | CD5 regulates immune tolerance; altered CD5 expression or function may lead to autoreactive B and T cell activation. | Association studies and mouse models indicate CD5 involvement in autoimmune pathogenesis. |
| B-cell lymphomas (subset) | CD5 expression is seen in some B-cell lymphomas (e.g., mantle cell lymphoma), where it may contribute to tumor progression. | Diagnostic immunophenotyping identifies CD5 positivity in these lymphomas. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Thymus | 9.2 | Medium |
| Blood | 8.7 | Medium |
| Bone marrow | 6.3 | Low |
| Lung | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression; used as a model for T-cell signaling. |
| MOLT-4 (T-ALL) | 14.8 | High expression; typical for T-cell malignancies. |
| Ramos (Burkitt lymphoma) | 0.3 | Negative; B-cell line without CD5. |
| K-562 (CML) | 0.1 | Negative; non-lymphoid line. |
| Daudi (Burkitt lymphoma) | 0.2 | Negative; B-cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare (<0.1%) | Alters SRCR domain; potential impact on ligand binding. |
| c.456_458del (p.Glu153del) | In-frame deletion | Rare | May affect protein stability. |
| c.789G>A (p.Trp263Ter) | Nonsense | Very rare | Premature truncation; likely loss of function. |
| c.1001A>G (p.Asn334Ser) | Missense | Rare | Located in cytoplasmic domain; may affect signaling. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD5 are rare and may impair its inhibitory role on immune receptor signaling, potentially leading to enhanced autoimmunity or altered lymphocyte activation. However, no common pathogenic loss-of-function variants are documented in major databases.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized for CD5. Overexpression of wild-type CD5 is more common in malignancies, suggesting a role in tumor survival rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CD5. The protein functions as a monomer; thus, dominant-negative effects are unlikely.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T cell receptor signaling pathway (KEGG: hsa04660)
• B cell receptor signaling pathway (KEGG: hsa04662)
• PD-1 signaling (Reactome: R-HSA-389948)
• Costimulation by the CD28 family (Reactome: R-HSA-388841)
Protein Summary
The CD5 protein is a 495-amino-acid type I transmembrane glycoprotein with an extracellular region containing three scavenger receptor cysteine-rich (SRCR) domains, a transmembrane domain, and a cytoplasmic tail with immunoreceptor tyrosine-based inhibitory motifs (ITIMs). It is expressed on thymocytes, mature T cells, and a subset of B cells. CD5 modulates antigen receptor signaling by recruiting phosphatases such as SHP-1, thereby setting the threshold for activation. It also interacts with CD5 ligand (CD5L) and other molecules, influencing cell survival and differentiation. In cancer, CD5 is a diagnostic marker and a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD5 Knockout HEK293 Cell Line | EDJ-KQ1505 | Human | 921 | Details Get a Quote |
| SCD5 Knockout HEK293 Cell Line | EDJ-KQ1873 | Human | 79966 | Details Get a Quote |
| CD55 Knockout HEK293 Cell Line | EDJ-KQ3223 | Human | 1604 | Details Get a Quote |
| CD5L Knockout HEK293 Cell Line | EDJ-KQ4216 | Human | 922 | Details Get a Quote |
| CD53 Knockout HEK293 Cell Line | EDJ-KQ4223 | Human | 963 | Details Get a Quote |
| CD58 Knockout HEK293 Cell Line | EDJ-KQ4224 | Human | 965 | Details Get a Quote |
| C2CD5 Knockout HEK293 Cell Line | EDJ-KQ6775 | Human | 9847 | Details Get a Quote |
| TLCD5 Knockout HEK293 Cell Line | EDJ-KQ8427 | Human | 219902 | Details Get a Quote |
| BRICD5 Knockout HEK293 Cell Line | EDJ-KQ12566 | Human | 283870 | Details Get a Quote |
| TLCD5 Knockout HeLa Cell Line | EDJ-KQ33195 | Human | 219902 | Details Get a Quote |
| SCD5 Knockout A-549 Cell Line | EDJ-KQ20446 | Human | 79966 | Details Get a Quote |
| SCD5 Knockout HCT 116 Cell Line | EDJ-KQ21750 | Human | 79966 | Details Get a Quote |
| SCD5 Knockout HeLa Cell Line | EDJ-KQ21751 | Human | 79966 | Details Get a Quote |
| CD55 Knockout A-549 Cell Line | EDJ-KQ24720 | Human | 1604 | Details Get a Quote |
| CD55 Knockout HCT 116 Cell Line | EDJ-KQ24721 | Human | 1604 | Details Get a Quote |
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