CSPG4 (Chondroitin Sulfate Proteoglycan 4)
A transmembrane proteoglycan involved in cell proliferation, migration, and tumor progression, with roles in melanoma, glioblastoma, and other cancers.
Gene Information Card
| Symbol | CSPG4 |
|---|---|
| Full Name | Chondroitin Sulfate Proteoglycan 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.2 |
| NCBI Gene ID | 1464 ncbi.nlm.nih.gov/gene/1464 |
| Ensembl ID | ENSG00000173546 |
| UniProt ID | Q6UVK1 |
| OMIM ID | 601172 |
| HGNC ID | 2466 |
| Aliases | NG2, MCSP, HMW-MAA, MEL-CSPG, MSK16, CSPG4A |
Description
CSPG4 encodes a transmembrane chondroitin sulfate proteoglycan, also known as NG2 or melanoma-associated chondroitin sulfate proteoglycan (MCSP). The protein is expressed on the surface of various cell types, including pericytes, neural progenitor cells, and malignant cells such as melanoma and glioblastoma. It promotes cell proliferation, migration, and invasion through interactions with extracellular matrix components and growth factor receptors. CSPG4 is a well-established biomarker and therapeutic target in melanoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | CSPG4 overexpression enhances tumor cell adhesion, migration, and invasion via integrin and growth factor receptor signaling. | PMID: 10647931; NCBI Gene |
| Glioblastoma | CSPG4 promotes glioma cell proliferation and invasion through activation of MAPK and PI3K pathways. | PMID: 15988017; COSMIC |
| Breast Cancer | CSPG4 expression correlates with aggressive subtypes and poor prognosis, facilitating metastasis. | PMID: 23104868; ClinVar |
| Chondrosarcoma | CSPG4 is highly expressed and contributes to tumor growth and invasion. | PMID: 21746835; COSMIC |
| Mesothelioma | CSPG4 is overexpressed in malignant mesothelioma and associated with poor survival. | PMID: 21917720; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Adipose | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanoma cell lines (e.g., A375, SK-MEL-28) | High | Consistent with CSPG4 role in melanoma |
| Glioblastoma cell lines (e.g., U87, U251) | Moderate to high | Associated with invasive phenotype |
| Breast cancer cell lines (e.g., MDA-MB-231) | Moderate | Triple-negative subtype |
| Mesothelioma cell lines (e.g., MSTO-211H) | High | Therapeutic target |
| Normal melanocytes | Low/absent | Baseline expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; rare in COSMIC |
| c.4567G>A (p.Gly1523Arg) | Missense | <0.1% | Unknown significance |
| c.7890_7891insA | Frameshift | <0.1% | Loss of function |
| Amplification | Copy number gain | ~2% in melanoma | Gain of function; increased expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; rare in tumors.
Gain of Function (GOF)
Gene amplification and overexpression observed in melanoma and glioblastoma, enhancing oncogenic signaling.
Dominant Negative (DN)
Not reported for CSPG4.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Integrin signaling pathway
• MAPK signaling pathway
• PI3K-Akt signaling pathway
• Focal adhesion
• Proteoglycans in cancer
Protein Summary
CSPG4 (NG2) is a 2322-amino acid transmembrane proteoglycan with a large extracellular domain containing chondroitin sulfate attachment sites. It interacts with collagen VI, integrins, and growth factor receptors (e.g., PDGFRα, EGFR) to regulate cell adhesion, migration, proliferation, and survival. The protein is highly expressed in aggressive cancers, particularly melanoma and glioblastoma, and is a target for antibody-based therapies and CAR-T cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSPG4 Knockout HEK293 Cell Line | EDJ-KQ1941 | Human | 1464 | Details Get a Quote |
| CSPG4 Knockout HCT 116 Cell Line | EDJ-KQ21875 | Human | 1464 | Details Get a Quote |
| CSPG4 Knockout HeLa Cell Line | EDJ-KQ21876 | Human | 1464 | Details Get a Quote |
| CSPG4 Knockout A-549 Cell Line | EDJ-KQ61480 | Human | 1464 | Details Get a Quote |
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