CD80 (B7-1) Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the CD80 gene, its protein product, expression patterns, disease associations, and mutations.
Gene Information Card
| Symbol | CD80 |
|---|---|
| Full Name | CD80 molecule |
| Gene Type | protein coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 941 ncbi.nlm.nih.gov/gene/941 |
| Ensembl ID | ENSG00000121594 |
| UniProt ID | P33681 |
| OMIM ID | 112203 |
| HGNC ID | 1700 |
| Aliases | B7-1, B7.1, CD28LG, LAB7, BB1 |
Description
The CD80 gene encodes a type I membrane protein that belongs to the immunoglobulin superfamily. CD80 (also known as B7-1) is expressed on the surface of antigen-presenting cells (APCs) such as dendritic cells, macrophages, and B cells. It provides a costimulatory signal to T cells through binding to CD28 and CTLA-4, playing a critical role in T cell activation, regulation, and immune tolerance. CD80 is also involved in the pathogenesis of autoimmune diseases and cancer, making it a target for immunomodulatory therapies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune diseases (e.g., rheumatoid arthritis, lupus) | CD80 costimulation promotes autoreactive T cell activation, contributing to inflammation. | OMIM, PubMed (via NCBI) |
| Cancer (various types) | Tumor cells or APCs may express CD80 to modulate anti-tumor immunity; CD80 can be a target for checkpoint blockade. | COSMIC, PubMed (via NCBI) |
| Infectious diseases | CD80 expression influences immune response to pathogens, affecting clearance and pathology. | PubMed (via NCBI) |
| Transplant rejection | CD80-mediated costimulation is involved in alloreactive T cell responses. | OMIM, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | High (nTPM ~ 50-100) | High expression in immune tissues |
| Spleen | High (nTPM ~ 50-100) | High expression in immune tissues |
| Bone marrow | Moderate (nTPM ~ 20-50) | Moderate expression |
| Blood | Moderate (nTPM ~ 20-50) | Expression in leukocytes |
| Lung | Low (nTPM < 10) | Low expression |
| Liver | Low (nTPM < 10) | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Dendritic cells | High | Constitutive expression, upregulated upon maturation |
| Macrophages | High | Induced by inflammatory stimuli |
| B cells | Moderate | Upregulated upon activation |
| T cells (activated) | Low | Induced upon activation |
| Tumor cell lines (e.g., melanoma) | Variable | Some tumors express CD80 |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1129055 (c.29A>G, p.Asn10Ser) | SNP | Allele frequency ~0.2-0.4 (global) | May affect CD80 function; associated with autoimmune disease susceptibility in some studies. |
| rs3177928 (c.684C>T, p.Thr228=) | Synonymous SNP | Allele frequency ~0.1-0.3 | No known functional effect. |
| Somatic mutations in cancer (e.g., missense, frameshift) | Various | Low frequency (<1%) in many cancers | May alter CD80 expression or binding affinity; potential impact on immune evasion. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD80 are rare; they may impair costimulatory signaling, leading to reduced T cell activation and potential immunodeficiency or autoimmunity.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression of CD80 on tumors may enhance anti-tumor immunity but also contribute to chronic inflammation.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CD80.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signaling receptor binding |
| • immune response | • T cell costimulation |
| • cell surface receptor signaling pathway | • positive regulation of T cell proliferation |
| • negative regulation of T cell proliferation | • plasma membrane |
Pathways
• T cell receptor signaling pathway
• Costimulation by the CD28 family
• PD-1 signaling
• Immune checkpoint pathway
• Antigen processing and presentation
Protein Summary
CD80 is a 288-amino acid type I transmembrane glycoprotein with an extracellular region containing one Ig-like V-type and one Ig-like C2-type domain. It exists as a monomer or dimer on the cell surface. CD80 binds to CD28 (activating) and CTLA-4 (inhibitory) on T cells. The interaction with CD28 provides a costimulatory signal essential for full T cell activation, while CTLA-4 binding delivers inhibitory signals, regulating immune responses. CD80 is also a ligand for PD-L1, forming a complex that modulates T cell activity. The protein is involved in antigen presentation and immune synapse formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD80 Knockout HEK293 Cell Line | EDJ-KQ17733 | Human | 941 | Details Get a Quote |
| CD80 Knockout HeLa Cell Line | EDJ-KQ52829 | Human | 941 | Details Get a Quote |
| CD80 Knockout A-549 Cell Line | EDJ-KQ61299 | Human | 941 | Details Get a Quote |
| CD80 Knockout HCT 116 Cell Line | EDJ-KQ69794 | Human | 941 | Details Get a Quote |
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