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Aliases for CSPG4 Gene

Aliases for CSPG4 Gene

  • Chondroitin Sulfate Proteoglycan 4 2 3 3 5
  • Melanoma-Associated Chondroitin Sulfate Proteoglycan 2 3 4
  • Chondroitin Sulfate Proteoglycan 4 (Melanoma-Associated) 2 3
  • Melanoma Chondroitin Sulfate Proteoglycan 3 4
  • Chondroitin Sulfate Proteoglycan NG2 3 4
  • MCSP 3 4
  • MEL-CSPG 3
  • HMW-MAA 3
  • MCSPG 3
  • MSK16 3
  • NG2 3

External Ids for CSPG4 Gene

Previous GeneCards Identifiers for CSPG4 Gene

  • GC15M071843
  • GC15M069056
  • GC15M073542
  • GC15M073682
  • GC15M073754
  • GC15M075966
  • GC15M052722

Summaries for CSPG4 Gene

Entrez Gene Summary for CSPG4 Gene

  • 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]

GeneCards Summary for CSPG4 Gene

CSPG4 (Chondroitin Sulfate Proteoglycan 4) is a Protein Coding gene. Diseases associated with CSPG4 include Melanoma and Demyelinating Disease. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein kinase binding and obsolete signal transducer activity. An important paralog of this gene is FREM2.

UniProtKB/Swiss-Prot for CSPG4 Gene

  • Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades.

Gene Wiki entry for CSPG4 Gene

Additional gene information for CSPG4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSPG4 Gene

Genomics for CSPG4 Gene

GeneHancer (GH) Regulatory Elements for CSPG4 Gene

Promoters and enhancers for CSPG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J075711 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 655 +0.1 61 2.6 PKNOX1 INSM2 KLF17 SIN3A GLI4 ZNF2 ZNF335 GLIS2 EGR1 ZFP91 CSPG4 MAN2C1 ENSG00000203392 SIN3A ENSG00000260274 DNM1P35 FBXO22 ENSG00000261043 DNM1P34 MIR631
GH15J075637 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 12.2 +73.4 73360 4.5 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 ENSG00000275454 MAN2C1 SIN3A SNUPN ENSG00000260274 EDC3 DNM1P49 LOC105370902 GOLGA6D ENSG00000261232
GH15J075604 Enhancer 0.9 Ensembl ENCODE 11.9 +106.1 106103 4 TEAD4 TAL1 ZKSCAN1 TCF12 ZNF316 NCOR1 VEZF1 CBFA2T2 PRDM10 MAFK MAN2C1 DNM1P35 SNUPN ENSG00000203392 FBXO22 PTPN9 CSPG4 IMP3 SNX33 MIR631
GH15J075775 Enhancer 0.8 ENCODE 12.2 -63.5 -63470 0.7 ATF1 INSM2 KLF17 RARA ETS1 ZEB1 GLIS2 ZNF366 FOS ATF7 LOC441728 ENSG00000261043 CSPG4 ENSG00000203392 SNX33 IMP3 DNM1P35 GC15P075786
GH15J075619 Enhancer 0.7 Ensembl ENCODE 11.4 +91.5 91471 3.2 SCRT1 ZNF121 JUND JUN SCRT2 ZBTB17 MAN2C1 SNUPN ENSG00000260274 PTPN9 SNX33 IMP3 ENSG00000203392 CSPG4 MIR631 ENSG00000260235
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSPG4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSPG4 gene promoter:
  • YY1
  • HTF
  • Pax-2
  • Pax-2a
  • NF-kappaB
  • NF-kappaB1
  • HFH-3
  • FOXI1
  • Nkx5-1
  • Lmo2

Genomic Locations for CSPG4 Gene

Genomic Locations for CSPG4 Gene
chr15:75,674,322-75,712,848
(GRCh38/hg38)
Size:
38,527 bases
Orientation:
Minus strand
chr15:75,966,663-76,005,189
(GRCh37/hg19)
Size:
38,527 bases
Orientation:
Minus strand

Genomic View for CSPG4 Gene

Genes around CSPG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSPG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSPG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSPG4 Gene

Proteins for CSPG4 Gene

  • Protein details for CSPG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UVK1-CSPG4_HUMAN
    Recommended name:
    Chondroitin sulfate proteoglycan 4
    Protein Accession:
    Q6UVK1
    Secondary Accessions:
    • D3DW77
    • Q92675

    Protein attributes for CSPG4 Gene

    Size:
    2322 amino acids
    Molecular mass:
    250537 Da
    Quaternary structure:
    • Interacts with the first PDZ domain of MPDZ. Interacts with PRKCA. Binds TNC, laminin-1, COL5A1 and COL6A2. Interacts with PLG and angiostatin. Binds FGF2 and PDGFA. Interacts with GRIP1, GRIP2 and GRIA2. Forms a ternary complex with GRIP1 and GRIA2 (By similarity). Interacts with LGALS3 and the integrin composed of ITGB1 and ITGA3. Interacts with ITGA4 through its chondroitin sulfate glycosaminoglycan. Interacts with BCAR1, CDC42 and ACK1. Interacts with MMP16.
    Miscellaneous:
    • Valuable marker for several incompletely differentiated precursor cells.

neXtProt entry for CSPG4 Gene

Post-translational modifications for CSPG4 Gene

  • O-glycosylated; contains glycosaminoglycan chondroitin sulfate which are required for proper localization and function in stress fiber formation (By similarity). Involved in interaction with MMP16 and ITGA4.
  • Phosphorylation by PRKCA regulates its subcellular location and function in cell motility.
  • Glycosylation at Asn2075, posLast=20402040, posLast=20342034, Asn2016, Asn1909, Asn1645, posLast=14491449, posLast=13641364, Asn1202, posLast=11311131, Ser995, Asn772, Asn685, posLast=427427, posLast=348348, and Asn130
  • Modification sites at PhosphoSitePlus

Other Protein References for CSPG4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSPG4 Gene

Domains & Families for CSPG4 Gene

Gene Families for CSPG4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CSPG4 Gene

Suggested Antigen Peptide Sequences for CSPG4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CSPG4: view

No data available for UniProtKB/Swiss-Prot for CSPG4 Gene

Function for CSPG4 Gene

Molecular function for CSPG4 Gene

UniProtKB/Swiss-Prot Function:
Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades.

Phenotypes From GWAS Catalog for CSPG4 Gene

Gene Ontology (GO) - Molecular Function for CSPG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 obsolete signal transducer activity IEA --
GO:0019901 protein kinase binding IPI 10587647
genes like me logo Genes that share ontologies with CSPG4: view
genes like me logo Genes that share phenotypes with CSPG4: view

Animal Models for CSPG4 Gene

MGI Knock Outs for CSPG4:
  • Cspg4 Cspg4<tm1Wbst>
  • Cspg4 Cspg4<tm1(cre)Akik>
  • Cspg4 Cspg4<tm1.1Trot>
  • Cspg4 Cspg4<tm1.1(cre/ERT2)Fki>
  • Cspg4 Cspg4<tm1b(KOMP)Wtsi>

Animal Model Products

miRNA for CSPG4 Gene

miRTarBase miRNAs that target CSPG4

Clone Products

  • Addgene plasmids for CSPG4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSPG4 Gene

Localization for CSPG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSPG4 Gene

Cell membrane; Single-pass type I membrane protein; Extracellular side. Apical cell membrane; Single-pass type I membrane protein; Extracellular side. Cell projection, lamellipodium membrane; Single-pass type I membrane protein; Extracellular side. Cell surface. Note=Localized at the apical plasma membrane it relocalizes to the lamellipodia of astrocytoma upon phosphorylation by PRKCA. Localizes to the retraction fibers. Localizes to the plasma membrane of oligodendrocytes (By similarity). {ECO:0000250 UniProtKB:Q00657, ECO:0000250 UniProtKB:Q8VHY0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSPG4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
golgi apparatus 5
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSPG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 8790396
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with CSPG4: view

Pathways & Interactions for CSPG4 Gene

genes like me logo Genes that share pathways with CSPG4: view

Pathways by source for CSPG4 Gene

Gene Ontology (GO) - Biological Process for CSPG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0001525 angiogenesis IEA --
GO:0007165 signal transduction IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with CSPG4: view

No data available for SIGNOR curated interactions for CSPG4 Gene

Drugs & Compounds for CSPG4 Gene

(1) Drugs for CSPG4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chondroitin sulfate Approved, Investigational Nutra 0

(2) Additional Compounds for CSPG4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CSPG4: view

Transcripts for CSPG4 Gene

mRNA/cDNA for CSPG4 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(117) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSPG4 Gene

Chondroitin sulfate proteoglycan 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for CSPG4

Alternative Splicing Database (ASD) splice patterns (SP) for CSPG4 Gene

No ASD Table

Relevant External Links for CSPG4 Gene

GeneLoc Exon Structure for
CSPG4
ECgene alternative splicing isoforms for
CSPG4

Expression for CSPG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSPG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSPG4 Gene

This gene is overexpressed in Artery - Tibial (x7.1), Artery - Aorta (x4.8), and Artery - Coronary (x4.4).

Protein differential expression in normal tissues from HIPED for CSPG4 Gene

This gene is overexpressed in Esophagus (7.2), Placenta (6.7), and Uterus (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CSPG4 Gene



Protein tissue co-expression partners for CSPG4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSPG4 Gene:

CSPG4

SOURCE GeneReport for Unigene cluster for CSPG4 Gene:

Hs.513044

mRNA Expression by UniProt/SwissProt for CSPG4 Gene:

Q6UVK1-CSPG4_HUMAN
Tissue specificity: Detected only in malignant melanoma cells.

Evidence on tissue expression from TISSUES for CSPG4 Gene

  • Bone marrow(4.1)
  • Liver(3.8)
  • Nervous system(3.1)
  • Skin(2.9)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CSPG4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CSPG4 Gene

Orthologs for CSPG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CSPG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSPG4 34 33
  • 98.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSPG4 34 33
  • 86.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cspg4 16 34 33
  • 83.02 (n)
dog
(Canis familiaris)
Mammalia CSPG4 34 33
  • 82.8 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cspg4 33
  • 82.74 (n)
oppossum
(Monodelphis domestica)
Mammalia CSPG4 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves CSPG4 34 33
  • 60.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSPG4 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733782 33
  • 48.35 (n)
zebrafish
(Danio rerio)
Actinopterygii cspg4 34 33
  • 48.05 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kon 34
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C48E7.6 34 35
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for CSPG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CSPG4 Gene

ENSEMBL:
Gene Tree for CSPG4 (if available)
TreeFam:
Gene Tree for CSPG4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSPG4: view image

Paralogs for CSPG4 Gene

Paralogs for CSPG4 Gene

(1) SIMAP similar genes for CSPG4 Gene using alignment to 3 proteins:

  • CSPG4_HUMAN
  • A2VCL1_HUMAN
  • L8E9X8_HUMAN
genes like me logo Genes that share paralogs with CSPG4: view

Variants for CSPG4 Gene

Sequence variations from dbSNP and Humsavar for CSPG4 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs76827801 benign, not specified 75,690,151(-) G/A/C coding_sequence_variant, missense_variant
rs1000106936 -- 75,709,006(-) A/T intron_variant
rs1000269184 -- 75,703,294(-) G/A intron_variant
rs1000533353 -- 75,693,079(-) T/G coding_sequence_variant, synonymous_variant
rs1000703405 -- 75,702,897(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSPG4 Gene

Variant ID Type Subtype PubMed ID
esv2667001 CNV deletion 23128226
esv2749894 CNV deletion 23290073
esv2749895 CNV deletion 23290073
nsv1116463 OTHER inversion 24896259
nsv527186 CNV loss 19592680
nsv569997 CNV loss 21841781
nsv951997 CNV deletion 24416366
nsv984092 CNV duplication 23825009

Variation tolerance for CSPG4 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.72; 93.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSPG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSPG4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSPG4 Gene

Disorders for CSPG4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CSPG4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
demyelinating disease
  • demyelinating disorder
- elite association - COSMIC cancer census association via MalaCards
Search CSPG4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSPG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSPG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSPG4 Gene

Publications for CSPG4 Gene

  1. NG2 proteoglycan promotes endothelial cell motility and angiogenesis via engagement of galectin-3 and alpha3beta1 integrin. (PMID: 15181153) Fukushi J … Stallcup WB (Molecular biology of the cell 2004) 3 4 22 58
  2. A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defines a new protein family. (PMID: 12220645) Staub E … Rosenthal A (FEBS letters 2002) 3 4 22 58
  3. Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan. (PMID: 8790396) Pluschke G … Reisfeld RA (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Human skin aging is associated with reduced expression of the stem cell markers beta1 integrin and MCSP. (PMID: 19776755) Giangreco A … Watt FM (The Journal of investigative dermatology 2010) 3 22 58

Products for CSPG4 Gene

  • Addgene plasmids for CSPG4

Sources for CSPG4 Gene

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