CSPG4

Chondroitin sulfate proteoglycan 4, also known as melanoma-associated chondroitin sulfate proteoglycan (MCSP) or neuron-glial antigen 2 (NG2), is a chondroitin sulfate proteoglycan that in humans is encoded by the CSPG4 gene.^[5][6][7]

CSPG4
Identifiers
Aliases	CSPG4, HMW-MAA, MCSP, MCSPG, MEL-CSPG, MSK16, NG2, chondroitin sulfate proteoglycan 4, CSPG4A
External IDs	OMIM: 601172; MGI: 2153093; HomoloGene: 20445; GeneCards: CSPG4; OMA:CSPG4 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q24.2 Start 75,674,322 bp[1] End 75,712,848 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 B Start 56,772,317 bp[2] End 56,807,154 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii cartilage tissue tibia popliteal artery tibial arteries right coronary artery Descending thoracic aorta ascending aorta left coronary artery muscle layer of sigmoid colon Top expressed in ascending aorta tunica media of zone of aorta internal carotid artery aortic valve fossa condyle external carotid artery phalanx of foot phalanx of third toe phalanx of fourth toe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signal transducer activity protein kinase binding Cellular component integral component of membrane cell projection membrane focal adhesion plasma membrane integral component of plasma membrane extracellular region cell surface lysosomal lumen apical plasma membrane Golgi lumen extracellular exosome lamellipodium membrane extracellular matrix collagen-containing extracellular matrix Biological process glycosaminoglycan metabolic process cell differentiation intracellular signal transduction transmembrane receptor protein tyrosine kinase signaling pathway chondroitin sulfate biosynthetic process multicellular organism development angiogenesis positive regulation of peptidyl-tyrosine phosphorylation chondroitin sulfate catabolic process dermatan sulfate biosynthetic process cell population proliferation tissue remodeling signal transduction glial cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1464 121021 Ensembl ENSG00000173546 ENSMUSG00000032911 UniProt Q6UVK1 Q8VHY0 RefSeq (mRNA) NM_001897 NM_139001 RefSeq (protein) NP_001888 NP_620570 Location (UCSC) Chr 15: 75.67 – 75.71 Mb Chr 9: 56.77 – 56.81 Mb PubMed search [3] [4]
Wikidata
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Function

CSPG4 plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. It represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells.^[7]

Implications in disease

CSPG4/NG2 is also a hallmark protein of oligodendrocyte progenitor cells (OPCs)^[8] and OPC dysfunction has been implicated as a candidate pathophysiological mechanism of familial schizophrenia.^[9] A research group investigating the role of genetics in schizophrenia, reported, two rare missense mutations in CSPG4 gene, segregating within families (CSPG4^A131T and CSPG4^V901G mutations). The researchers also demonstrate that the induced pluripotent stem cells (iPSCs)-derived OPCs from CSPG4^A131T mutation carriers exhibited abnormal post-translational processing, subcellular localization of the mutant NG2 protein, aberrant cellular morphology, and a decreased cell viability and myelination potential. In vivo diffusion tensor imaging of the brain of CSPG4^A131T mutation carriers demonstrated a reduced white matter integrity compared to the unaffected sibling and matched general population controls.^[10]

See also

• NG2-glia