BSG (Basigin) - CD147, EMMPRIN: Function, Disease Associations, and Expression
A comprehensive biomedical overview of the BSG gene, its protein product basigin (CD147/EMMPRIN), associated diseases, tissue and cell expression profiles, and mutation landscape.
Gene Information Card
| Symbol | BSG |
|---|---|
| Full Name | Basigin (Ok blood group) |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 682 ncbi.nlm.nih.gov/gene/682 |
| Ensembl ID | ENSG00000172270 |
| UniProt ID | P35613 |
| OMIM ID | 109480 |
| HGNC ID | 1116 |
| Aliases | CD147, EMMPRIN, M6, OK, 5F7, TCSF, HAb18G |
Description
The BSG gene encodes basigin, also known as CD147 or EMMPRIN (Extracellular Matrix Metalloproteinase Inducer). This highly glycosylated transmembrane protein belongs to the immunoglobulin superfamily. It is widely expressed on the surface of various cell types, including hematopoietic, epithelial, endothelial, and tumor cells. Basigin plays a crucial role in numerous physiological and pathological processes, including matrix metalloproteinase (MMP) induction, cell adhesion, spermatogenesis, retinal function, and immune responses. It is also a receptor for cyclophilins and is involved in the entry of certain pathogens, such as the malaria parasite Plasmodium falciparum. Due to its overexpression in many cancers and its role in tumor invasion and metastasis, BSG is a significant focus in cancer research and a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Cancer (various types) | Overexpression of BSG on tumor cells induces the production of matrix metalloproteinases (MMPs) by neighboring fibroblasts and tumor cells, promoting extracellular matrix degradation, tumor invasion, and metastasis. It also promotes angiogenesis and tumor cell survival. | High expression levels are found in numerous cancers (breast, lung, colorectal, melanoma, etc.) and correlate with poor prognosis and increased metastatic potential. (Source: COSMIC, NCBI Gene, UniProt) |
| Alzheimer's Disease | BSG is involved in the regulation of amyloid precursor protein (APP) processing. It interacts with gamma-secretase, potentially influencing the production of amyloid-beta (Aβ) peptides, which are central to Alzheimer's disease pathology. | Genetic and functional studies have linked BSG to Aβ metabolism and Alzheimer's disease risk. (Source: NCBI Gene, UniProt) |
| Rheumatoid Arthritis | BSG (EMMPRIN) is highly expressed in the inflamed synovium and on activated T cells. It stimulates the production of MMPs and inflammatory cytokines, contributing to joint destruction and inflammation. | Elevated levels of soluble BSG are found in the serum and synovial fluid of patients with rheumatoid arthritis. (Source: NCBI Gene, UniProt) |
| Malaria (Plasmodium falciparum) | BSG (CD147) acts as a receptor for the Plasmodium falciparum reticulocyte-binding protein homolog 5 (PfRh5), which is essential for the parasite's invasion of human erythrocytes. | Studies have demonstrated that blocking CD147 prevents erythrocyte invasion by P. falciparum. (Source: NCBI Gene, UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Kidney | ~1000 | High |
| Liver | ~800 | High |
| Lung | ~700 | High |
| Heart | ~600 | Medium |
| Brain | ~500 | Medium |
| Skeletal Muscle | ~400 | Medium |
| Pancreas | ~300 | Medium |
| Spleen | ~250 | Low |
| Bone Marrow | ~200 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| A549 (Lung Carcinoma) | ~1200 | High expression, consistent with its role in tumor invasion. |
| HepG2 (Hepatocellular Carcinoma) | ~900 | High expression, reflecting liver tissue levels. |
| MCF7 (Breast Adenocarcinoma) | ~800 | High expression, associated with metastatic potential. |
| HeLa (Cervical Adenocarcinoma) | ~750 | High expression, a common laboratory cell line. |
| K562 (Chronic Myelogenous Leukemia) | ~300 | Moderate expression in this hematopoietic cell line. |
| SH-SY5Y (Neuroblastoma) | ~250 | Moderate expression in a neuronal-like cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.22G>A (p.Ala8Thr) | Missense | Rare (found in specific populations) | Associated with the Ok(a-) blood group phenotype; may affect protein function or expression on red blood cells. |
| c.230C>T (p.Pro77Leu) | Missense | Rare | Reported in ClinVar; clinical significance is uncertain, but may affect protein stability or interactions. |
| c.412G>A (p.Gly138Ser) | Missense | Rare | Reported in ClinVar; clinical significance is uncertain, potentially affecting ligand binding. |
| c.563A>G (p.Asn188Ser) | Missense | Rare | Reported in ClinVar; clinical significance is uncertain, may affect glycosylation patterns. |
Mutation functional classification
Loss of Function (LOF)
Complete loss-of-function mutations in BSG are likely lethal or cause severe developmental defects, as the protein is essential for basic cellular processes like spermatogenesis and retinal function. However, specific missense mutations, such as those causing the Ok(a-) blood group phenotype, may result in partial loss of function in specific contexts (e.g., on erythrocytes) without systemic lethality.
Gain of Function (GOF)
Gain-of-function mutations are not commonly described in the literature. The primary oncogenic mechanism is overexpression of the wild-type protein, which leads to increased MMP induction and tumor progression. Therefore, regulatory mutations that increase BSG expression are more relevant than coding mutations that alter protein activity.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BSG. Given that it functions as a dimer and interacts with multiple partners, a dominant-negative effect is theoretically possible, but no such variants have been reported in major databases like ClinVar or COSMIC.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • identical protein binding |
| • signaling receptor activity | • extracellular matrix structural constituent |
| • cell adhesion molecule binding | • cyclosporin A binding |
| • plasma membrane | • integral component of membrane |
| • extracellular exosome | • cell surface |
| • cell-cell adhesion | • positive regulation of cell population proliferation |
| • positive regulation of peptidase activity | • response to hypoxia |
| • angiogenesis | • spermatogenesis |
| • retina development | • inflammatory response |
| • viral entry into host cell |
Pathways
• Extracellular matrix organization
• Matrix metalloproteinase (MMP) induction pathway
• Tumor invasion and metastasis
• Interleukin-6 (IL-6) signaling
• VEGF signaling
• Monocyte extravasation
• Plasmodium falciparum erythrocyte invasion
Protein Summary
Basigin (CD147/EMMPRIN) is a highly glycosylated type I transmembrane protein of the immunoglobulin superfamily. It consists of two extracellular immunoglobulin-like domains, a transmembrane domain, and a short cytoplasmic tail. The protein is heavily N-glycosylated, which is essential for its function. Basigin is a multifunctional protein that stimulates the production of matrix metalloproteinases (MMPs) by adjacent cells, playing a key role in tissue remodeling, inflammation, and tumor invasion. It also functions as a receptor for cyclophilins and is involved in cell adhesion, spermatogenesis, and retinal function. Its expression is upregulated in various cancers and inflammatory diseases, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BSG Knockout HEK293 Cell Line | EDJ-KQ17722 | Human | 682 | Details Get a Quote |
| BSG Knockout A-549 Cell Line | EDJ-KQ19796 | Human | 682 | Details Get a Quote |
| BSG Knockout HCT 116 Cell Line | EDJ-KQ19797 | Human | 682 | Details Get a Quote |
| BSG Knockout HeLa Cell Line | EDJ-KQ19798 | Human | 682 | Details Get a Quote |
| BSG Knockout HEK293T Cell Line | EDC90865 | Human | 682 | Details Get a Quote |
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