This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are t... See more...

Aliases for VCAN Gene

Aliases for VCAN Gene

  • Versican 2 3 5
  • PG-M 2 3 4
  • Chondroitin Sulfate Proteoglycan Core Protein 2 3 4
  • Chondroitin Sulfate Proteoglycan 2 2 4
  • Glial Hyaluronate-Binding Protein 3 4
  • Large Fibroblast Proteoglycan 3 4
  • Versican Proteoglycan 2 3
  • Versican Core Protein 3 4
  • CSPG2 3 4
  • GHAP 3 4
  • ERVR 3
  • WGN1 3
  • VCAN 5
  • WGN 3

External Ids for VCAN Gene

Previous HGNC Symbols for VCAN Gene

  • CSPG2

Previous GeneCards Identifiers for VCAN Gene

  • GC05P082804
  • GC05P077975

Summaries for VCAN Gene

Entrez Gene Summary for VCAN Gene

  • This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

GeneCards Summary for VCAN Gene

VCAN (Versican) is a Protein Coding gene. Diseases associated with VCAN include Wagner Vitreoretinopathy and Wagner Syndrome. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is ACAN.

UniProtKB/Swiss-Prot Summary for VCAN Gene

  • May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.

Gene Wiki entry for VCAN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VCAN Gene

Genomics for VCAN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VCAN 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
GH05J083470 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 609.8 +2.0 2038 6.5 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 ZNF512 SOX13 IKZF1 ZNF692 VCAN TMEM167A piR-32325-154 HAPLN1
GH05J083306 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13.1 -165.5 -165517 5 POLR2A BACH1 STAT3 RELA SMAD5 IKZF2 TRIM22 EED DPF2 RELB VCAN ENSG00000249664 TMEM167A XRCC4 COQ10BP2 lnc-XRCC4-1
GH05J083368 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 15.7 -103.0 -102979 1.2 PKNOX1 HMBOX1 RUNX3 JUNB SPI1 BATF CEBPB ATF2 ZNF217 VCAN TMEM167A XRCC4 lnc-XRCC4-1 COQ10BP2
GH05J083375 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -94.4 -94418 6.8 TEAD4 CEBPB FOS EP300 ESR1 NFE2L2 VCAN TMEM167A XRCC4 lnc-XRCC4-1 COQ10BP2
GH05J083428 Enhancer 0.9 Ensembl ENCODE 12.3 -41.9 -41917 3.4 GATAD2A CTCF TEAD4 JUND FOXA1 REST RAD21 TRIM22 GABPA PKNOX1 VCAN FTH1P9 RF00017-4781 lnc-VCAN-2 TMEM167A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VCAN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VCAN

Top Transcription factor binding sites by QIAGEN in the VCAN gene promoter:
  • AML1a
  • E47
  • Egr-3
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HNF-3beta
  • IRF-7A
  • MyoD

Genomic Locations for VCAN Gene

Genomic Locations for VCAN Gene
chr5:83,471,618-83,582,303
(GRCh38/hg38)
Size:
110,686 bases
Orientation:
Plus strand
chr5:82,767,284-82,878,122
(GRCh37/hg19)
Size:
110,839 bases
Orientation:
Plus strand

Genomic View for VCAN Gene

Genes around VCAN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for VCAN Gene

Proteins for VCAN Gene

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

    Protein Symbol:
    P13611-CSPG2_HUMAN
    Recommended name:
    Versican core protein
    Protein Accession:
    P13611
    Secondary Accessions:
    • P20754
    • Q13010
    • Q13189
    • Q15123
    • Q9UCL9
    • Q9UNW5

    Protein attributes for VCAN Gene

    Size:
    3396 amino acids
    Molecular mass:
    372820 Da
    Quaternary structure:
    • Interacts with FBLN1.

    Alternative splice isoforms for VCAN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VCAN Gene

Post-translational modifications for VCAN Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Asn57, Asn330, Asn1398, Thr1418, Thr1419, Asn1442, Asn1468, Ser510, Thr516, Thr518, Thr522, Thr1566, Thr1569, Asn615, Thr627, Asn3369, Thr632, Asn3379, Ser641, Thr642, Thr643, Asn1663, Thr687, Thr689, Thr716, Ser1716, Thr1719, Thr1731, Thr1734, Thr751, Thr754, Ser1742, Ser1743, Thr1744, Thr1763, Ser1765, Asn782, Thr1769, Ser1772, Ser1775, Thr1777, Thr1778, Thr792, Thr1780, Thr799, Ser801, Asn809, Thr869, Thr886, Thr887, Ser888, Thr889, Asn1898, Ser1909, Tyr1917, Ser1925, Thr1926, Ser1935, Ser1942, Thr1943, Ser1945, Ser976, Thr981, Thr2036, Ser2058, Thr2059, Thr2063, Thr2069, Thr1092, Thr1093, Thr2083, Ser2085, Thr2086, Ser1101, Ser1103, Thr2091, Thr1110, Thr1116, Thr1121, Thr1123, Ser1131, Ser1133, Thr2152, Thr2153, Thr2159, Thr2160, Thr1191, Asn2179, Thr2194, Ser1212, Thr2200, Ser2203, Thr1219, Thr1220, Ser1221, Asn2272, Asn2280, Asn1332, Asn2360, Asn2385, Asn2392, Thr2416, Ser2417, Ser2422, Thr2448, Ser2455, Ser2456, Thr2457, Thr2458, Ser2473, Asn2496, Thr2503, Thr2505, Thr2509, Ser2515, Thr2516, Ser2530, Thr2531, Thr2540, Asn2628, Thr2656, Ser2661, Ser2699, Thr2701, Ser2781, Thr2784, Thr2785, Asn2934, Ser3024, Thr3025, Ser3029, and Asn3067
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CSPG2_HUMAN (1890)

No data available for DME Specific Peptides for VCAN Gene

Domains & Families for VCAN Gene

Gene Families for VCAN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for VCAN Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin subtype
  • Aspartic acid and asparagine hydroxylation site
  • Type II EGF-like signature
  • EGF-like calcium-binding
  • Sushi domain/SCR domain/CCP module
  • Link domain
  • Type II antifreeze protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for VCAN Gene

GenScript: Design optimal peptide antigens:
  • PG-M (CSPG2_HUMAN)
  • VCAN protein (Q86W61_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13611

UniProtKB/Swiss-Prot:

CSPG2_HUMAN :
  • Belongs to the aggrecan/versican proteoglycan family.
Family:
  • Belongs to the aggrecan/versican proteoglycan family.
genes like me logo Genes that share domains with VCAN: view

Function for VCAN Gene

Molecular function for VCAN Gene

UniProtKB/Swiss-Prot Function:
May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.

Phenotypes From GWAS Catalog for VCAN Gene

Gene Ontology (GO) - Molecular Function for VCAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 23601700
GO:0005539 glycosaminoglycan binding TAS 7528742
GO:0005540 hyaluronic acid binding TAS,IEA --
GO:0030021 extracellular matrix structural constituent conferring compression resistance RCA 20551380
genes like me logo Genes that share ontologies with VCAN: view
genes like me logo Genes that share phenotypes with VCAN: view

Human Phenotype Ontology for VCAN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VCAN Gene

MGI Knock Outs for VCAN:
  • Vcan Vcan<tm1.1Dzim>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VCAN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for VCAN Gene

Localization for VCAN Gene

Subcellular locations from UniProtKB/Swiss-Prot for VCAN Gene

Secreted, extracellular space, extracellular matrix. Cell projection, cilium, photoreceptor outer segment. Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix.

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 VCAN gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
lysosome 4
golgi apparatus 4
plasma membrane 3
nucleus 3
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VCAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space HDA 20551380
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with VCAN: view

Pathways & Interactions for VCAN Gene

PathCards logo

SuperPathways for VCAN Gene

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

Pathways by source for VCAN Gene

2 GeneGo (Thomson Reuters) pathways for VCAN Gene
  • Cell adhesion_Cell-matrix glycoconjugates
  • Cell adhesion_ECM remodeling
1 R&D Systems pathway for VCAN Gene
13 Qiagen pathways for VCAN Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

SIGNOR curated interactions for VCAN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VCAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA 21873635
GO:0001649 osteoblast differentiation HDA 16210410
GO:0007155 cell adhesion TAS,IEA --
GO:0007275 multicellular organism development TAS 2583089
GO:0007417 central nervous system development IBA 21873635
genes like me logo Genes that share ontologies with VCAN: view

Drugs & Compounds for VCAN Gene

(5) Drugs for VCAN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma Target, binder 717

(17) Additional Compounds for VCAN Gene - From: Novoseek

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

Transcripts for VCAN Gene

mRNA/cDNA for VCAN Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VCAN

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: - - -
SP5:
SP6: -
SP7:
SP8:
SP9:

ExUns: 18a · 18b ^ 19a · 19b · 19c · 19d
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for VCAN Gene

GeneLoc Exon Structure for
VCAN

Expression for VCAN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Aorta (x8.3), Artery - Coronary (x7.4), and Whole Blood (x6.5).

Protein differential expression in normal tissues from HIPED for VCAN Gene

This gene is overexpressed in Amniocyte (16.9), Spinal cord (10.1), Frontal cortex (8.4), and Brain (6.4).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VCAN

SOURCE GeneReport for Unigene cluster for VCAN Gene:

Hs.643801

mRNA Expression by UniProt/SwissProt for VCAN Gene:

P13611-CSPG2_HUMAN
Tissue specificity: Expressed in the retina (at protein level) (PubMed:29777959). Cerebral white matter and plasma (PubMed:2469524). Isoform V0: Expressed in normal brain, gliomas, medulloblastomas, schwannomas, neurofibromas, and meningiomas (PubMed:8627343). Isoform V1: Expressed in normal brain, gliomas, medulloblastomas, schwannomas, neurofibromas, and meningiomas (PubMed:8627343). Isoform V2: Restricted to normal brain and gliomas (PubMed:8627343). Isoform V3: Found in all these tissues except medulloblastomas (PubMed:8627343).

Evidence on tissue expression from TISSUES for VCAN Gene

  • Nervous system(5)
  • Lung(4.7)
  • Muscle(4.6)
  • Liver(4.5)
  • Heart(3.6)
  • Kidney(3.4)
  • Intestine(3.2)
  • Blood(3.1)
  • Spleen(3)
  • Skin(2.8)
  • Bone marrow(2.7)
  • Lymph node(2.7)
  • Pancreas(2.5)
  • Adrenal gland(2.3)
  • Bone(2.2)
  • Eye(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VCAN Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with VCAN: view

No data available for Protein tissue co-expression partners for VCAN Gene

Orthologs for VCAN Gene

This gene was present in the common ancestor of animals.

Orthologs for VCAN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VCAN 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VCAN 30 31
  • 83.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VCAN 30 31
  • 83.26 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vcan 30 17 31
  • 76.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vcan 30
  • 75.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia VCAN 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia VCAN 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves VCAN 31
  • 28 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VCAN 31
  • 33 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24776 30
Zebrafish
(Danio rerio)
Actinopterygii vcanb 31
  • 42 (a)
OneToOne
-- 30
Worm
(Caenorhabditis elegans)
Secernentea clec-149 31
  • 25 (a)
OneToMany
Species where no ortholog for VCAN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for VCAN Gene

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

Paralogs for VCAN Gene

Paralogs for VCAN Gene

(18) SIMAP similar genes for VCAN Gene using alignment to 4 proteins:

  • CSPG2_HUMAN
  • D6RGZ6_HUMAN
  • E9PF17_HUMAN
  • Q86W61_HUMAN
genes like me logo Genes that share paralogs with VCAN: view

Variants for VCAN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VCAN Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
713682 Likely Benign: not provided 83,540,815(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
713909 Benign: not provided 83,537,765(+) C/A MISSENSE_VARIANT,INTRON_VARIANT
718741 Benign: not provided 83,540,459(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
722705 Benign: not provided 83,580,059(+) G/C SYNONYMOUS_VARIANT
724226 Likely Benign: not provided 83,541,892(+) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for VCAN Gene

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

Variant ID Type Subtype PubMed ID
esv7817 CNV gain 19470904
nsv1015852 CNV gain 25217958
nsv462227 CNV loss 19166990
nsv4903 CNV insertion 18451855
nsv598784 CNV loss 21841781
nsv598785 CNV loss 21841781
nsv830366 CNV gain 17160897
nsv830367 CNV gain+loss 17160897

Variation tolerance for VCAN Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.03; 96.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VCAN Gene

Human Gene Mutation Database (HGMD)
VCAN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VCAN

SNP Genotyping and Copy Number Assay Products

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

Disorders for VCAN Gene

MalaCards: The human disease database

(21) MalaCards diseases for VCAN Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
wagner vitreoretinopathy
  • wgvrp
wagner syndrome
  • wagner vitreoretinopathy
fundus dystrophy
  • retinal dystrophy
inherited retinal disorder
  • retinal dystrophy
vitreoretinopathy
- elite association - COSMIC cancer census association via MalaCards
Search VCAN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSPG2_HUMAN
  • Wagner vitreoretinopathy (WGVRP) [MIM:143200]: A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia. {ECO:0000269 PubMed:16043844, ECO:0000269 PubMed:22739342}. Note=The disease is caused by mutations affecting the gene represented in this entry. The pathological mechanism involves a quantitative imbalance of the normally occurring splice variants (PubMed:22739342). {ECO:0000269 PubMed:22739342}.

Additional Disease Information for VCAN

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

No data available for Genatlas for VCAN Gene

Publications for VCAN Gene

  1. Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14). (PMID: 1478664) Iozzo RV … McPherson JD (Genomics 1992) 2 3 4 23
  2. Chondroitin sulfate proteoglycan 2 (CSPG2) gene polymorphisms rs173686 and rs251124 are not associated with intracranial aneurysms in Chinese Han nationality. (PMID: 18484070) Sun H … Zhao J (Upsala journal of medical sciences 2007) 3 23 41
  3. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. (PMID: 16043844) Miyamoto T … Itakura M (Investigative ophthalmology & visual science 2005) 3 4 23
  4. Versican/PG-M isoforms in vascular smooth muscle cells. (PMID: 10397680) Lemire JM … Wight TN (Arteriosclerosis, thrombosis, and vascular biology 1999) 3 4 23
  5. Differential expression of versican isoforms in brain tumors. (PMID: 8627343) Paulus W … Zimmermann DR (Journal of neuropathology and experimental neurology 1996) 3 4 23

Products for VCAN Gene

Sources for VCAN Gene