NCAN: Neurocan Core Protein

A chondroitin sulfate proteoglycan involved in neural development and extracellular matrix organization

Gene Information Card

Symbol NCAN
Full Name Neurocan
Gene Type protein-coding
Chromosomal Location 19p13.11
NCBI Gene ID 1463 ncbi.nlm.nih.gov/gene/1463
Ensembl ID ENSG00000130287
UniProt ID O14594
OMIM ID 600338
HGNC ID 7669
Aliases CSPG3, NEUR, neurocan core protein

Description

NCAN encodes neurocan, a chondroitin sulfate proteoglycan of the lectican family. It is a component of the extracellular matrix in the central nervous system, involved in neural cell adhesion, neurite outgrowth, and synaptic plasticity. Neurocan interacts with hyaluronan and other matrix molecules to modulate cell migration and axon guidance during development.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Bipolar disorder Genetic association; NCAN variants linked to altered brain structure and function GWAS studies (PMID: 21926972)
Schizophrenia Risk variant rs1064395 associated with increased susceptibility Meta-analysis (PMID: 21926972)
Osteoarthritis Polymorphisms in NCAN associated with hip and knee osteoarthritis GWAS (PMID: 22561529)

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 High
Cerebellum 15.2 High
Cerebral cortex 14.8 High
Spinal cord 8.3 Medium
Heart 1.2 Low
Liver 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 10.1 Neuronal model
U-87 MG (glioblastoma) 7.8 Glial model
HEK 293 (embryonic kidney) 0.3 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs1064395 SNV (intronic) 0.15 (European) Risk allele for bipolar disorder and schizophrenia
rs2228603 missense (p.Pro230Leu) 0.02 (global) Associated with osteoarthritis
Mutation functional classification

Loss of Function (LOF)

Not well characterized; complete loss may impair extracellular matrix integrity in CNS.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Pathways

ECM proteoglycans (Reactome: R-HSA-3000178)
Syndecan interactions (Reactome: R-HSA-3000170)

Protein Summary

Neurocan is a 1321-amino acid core protein with a signal peptide, an N-terminal hyaluronan-binding domain, a central mucin-like region with chondroitin sulfate attachment sites, and a C-terminal lectin-like domain. It is secreted and incorporated into the extracellular matrix, where it modulates cell adhesion and neurite growth. Post-translational modification includes glycosaminoglycan attachment.

Related Products

Product name Cat.No. Species Gene ID
NCAN Knockout HEK293 Cell Line EDJ-KQ4367 Human 1463 Details Get a Quote
NCAN Knockout HeLa Cell Line EDJ-KQ53014 Human 1463 Details Get a Quote
NCAN Knockout A-549 Cell Line EDJ-KQ61479 Human 1463 Details Get a Quote
NCAN Knockout HCT 116 Cell Line EDJ-KQ69976 Human 1463 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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