CSPG4 chondroitin sulfate proteoglycan 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSPG4provided by HGNC
Official Full Name: chondroitin sulfate proteoglycan 4provided by HGNC
Primary source: HGNC:HGNC:2466
See related: Ensembl:ENSG00000173546 MIM:601172; AllianceGenome:HGNC:2466
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NG2; MCSP; MCSPG; MSK16; CSPG4A; HMW-MAA; MEL-CSPG
Summary: A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]
Expression: Broad expression in fat (RPKM 18.8), placenta (RPKM 10.9) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (75674322..75713466, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (73545032..73584178, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75966663..76005189, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chondroitin Sulfate Proteoglycan 4 Provides New Treatment Approach to Preventing Peritoneal Dissemination in Ovarian Cancer.
Title: Chondroitin Sulfate Proteoglycan 4 Provides New Treatment Approach to Preventing Peritoneal Dissemination in Ovarian Cancer.
Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage.
Title: Disrupting mechanical homeostasis promotes matrix metalloproteinase-13 mediated processing of neuron glial antigen 2 in mandibular condylar cartilage.
Discovery of Hippo signaling as a regulator of CSPG4 expression and as a therapeutic target for Clostridioides difficile disease.
Title: Discovery of Hippo signaling as a regulator of CSPG4 expression and as a therapeutic target for Clostridioides difficile disease.
Trophoblast-specific knockdown of CSPG4 expression causes pregnancy complications with poor placentation in mice.
Title: Trophoblast-specific knockdown of CSPG4 expression causes pregnancy complications with poor placentation in mice.
Neuron-Glial Antigen 2 Participates in Liver Fibrosis via Regulating the Differentiation of Bone Marrow Mesenchymal Stem Cell to Myofibroblast.
Title: Neuron-Glial Antigen 2 Participates in Liver Fibrosis via Regulating the Differentiation of Bone Marrow Mesenchymal Stem Cell to Myofibroblast.
CSPG4 expression in soft tissue sarcomas is associated with poor prognosis and low cytotoxic immune response.
Title: CSPG4 expression in soft tissue sarcomas is associated with poor prognosis and low cytotoxic immune response.
CSPG4 Is a Potential Therapeutic Target in Anaplastic Thyroid Cancer.
Title: CSPG4 Is a Potential Therapeutic Target in Anaplastic Thyroid Cancer.
Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype.
Title: Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype.
NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by myocardin-related transcription factors in smooth muscle cells.
Title: NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by myocardin-related transcription factors in smooth muscle cells.
Expression of chondroitin sulfate proteoglycan 4 (CSPG4) in melanoma cells is downregulated upon inhibition of BRAF.
Title: Expression of chondroitin sulfate proteoglycan 4 (CSPG4) in melanoma cells is downregulated upon inhibition of BRAF.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coreceptor activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in glial cell migration	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in ruffle assembly	IEA Inferred from Electronic Annotation more info
involved_in substrate-dependent cell migration	IEA Inferred from Electronic Annotation more info
involved_in tissue remodeling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	HDA more info	PubMed
located_in cell surface	TAS Traceable Author Statement more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in lamellipodium membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: chondroitin sulfate proteoglycan 4

Names: chondroitin sulfate proteoglycan 4 (melanoma-associated); chondroitin sulfate proteoglycan NG2; melanoma chondroitin sulfate proteoglycan; melanoma-associated chondroitin sulfate proteoglycan

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001897.5 → NP_001888.2 chondroitin sulfate proteoglycan 4 precursor

See identical proteins and their annotated locations for NP_001888.2

Status: REVIEWED

Source sequence(s)

AY359468, BP363063, BQ679485, CA428796, CA438367, X96753

Consensus CDS

CCDS10284.1

UniProtKB/Swiss-Prot

D3DW77, Q6UVK1, Q92675

Related

ENSP00000312506.5, ENST00000308508.5

Conserved Domains (2) summary

cd00110
Location:203 → 361

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam16184
Location:1420 → 1563

Cadherin_3; Cadherin-like