CSPG5: Chondroitin Sulfate Proteoglycan 5

A key proteoglycan in neural development and synaptic function

Gene Information Card

Symbol CSPG5
Full Name chondroitin sulfate proteoglycan 5
Gene Type protein-coding
Chromosomal Location 3p21.31
NCBI Gene ID 10675 ncbi.nlm.nih.gov/gene/10675
Ensembl ID ENSG00000114646
UniProt ID O95196
OMIM ID 608173
HGNC ID 2468
Aliases NG2, neuroglycan C, CALEB

Description

CSPG5 (chondroitin sulfate proteoglycan 5), also known as neuroglycan C or CALEB, encodes a transmembrane proteoglycan predominantly expressed in the nervous system. It plays a critical role in neural development, neurite outgrowth, synaptic plasticity, and neuronal migration. The protein carries chondroitin sulfate chains and interacts with growth factors and extracellular matrix components.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Schizophrenia Altered CSPG5 expression may disrupt synaptic signaling and neural connectivity PMID: 21362589
Bipolar disorder Genetic association studies implicate CSPG5 variants in mood regulation pathways PMID: 22472876
Glioblastoma Overexpression of CSPG5 promotes tumor cell invasion and proliferation PMID: 25605247

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 45.2 High
Cerebral cortex 52.1 High
Cerebellum 38.7 Medium
Spinal cord 22.3 Medium
Heart 5.1 Low
Liver 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 62.4 Neuronal model
U87MG (glioblastoma) 48.9 High expression
HEK293 (embryonic kidney) 3.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.112G>A (p.Gly38Arg) Missense 0.01% Unknown functional impact
c.457C>T (p.Arg153Trp) Missense 0.005% Potential loss of function
c.789_790insA Frameshift 0.001% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations likely lead to truncated protein and loss of normal proteoglycan function.

Gain of Function (GOF)

No documented gain-of-function mutations in CSPG5.

Dominant Negative (DN)

No evidence of dominant-negative effects reported.

Pathways

• Chondroitin sulfate/dermatan sulfate metabolism (Reactome: R-HSA-1793185)
• ECM proteoglycans (KEGG: hsa04512)
• Neural crest differentiation (WikiPathways: WP2859)

Protein Summary

CSPG5 encodes a type I transmembrane proteoglycan (neuroglycan C) with an N-terminal chondroitin sulfate attachment domain, a single transmembrane helix, and a short cytoplasmic tail. The protein is heavily glycosylated and interacts with growth factors such as FGF2 and midkine, modulating neurite outgrowth and cell adhesion. It is predominantly expressed in the central nervous system and is implicated in neurodevelopmental disorders and glioblastoma.

Related Products

Product name Cat.No. Species Gene ID
CSPG5 Knockout HEK293 Cell Line EDJ-KQ7128 Human 10675 Details Get a Quote
CSPG5 Knockout A-549 Cell Line EDJ-KQ32008 Human 10675 Details Get a Quote
CSPG5 Knockout HCT 116 Cell Line EDJ-KQ32009 Human 10675 Details Get a Quote
CSPG5 Knockout HeLa Cell Line EDJ-KQ30632 Human 10675 Details Get a Quote
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