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Aliases for CSPG5 Gene

Aliases for CSPG5 Gene

  • Chondroitin Sulfate Proteoglycan 5 2 3 3 5
  • Acidic Leucine-Rich EGF-Like Domain-Containing Brain Protein 3 4
  • Chondroitin Sulfate Proteoglycan 5 (Neuroglycan C) 2 3
  • Neuroglycan C 2 4
  • NGC 3 4
  • CALEB 4

External Ids for CSPG5 Gene

Previous GeneCards Identifiers for CSPG5 Gene

  • GC03M047401
  • GC03M046808
  • GC03M047564
  • GC03M047578
  • GC03M047603

Summaries for CSPG5 Gene

Entrez Gene Summary for CSPG5 Gene

  • The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

GeneCards Summary for CSPG5 Gene

CSPG5 (Chondroitin Sulfate Proteoglycan 5) is a Protein Coding gene. Diseases associated with CSPG5 include Spontaneous Ocular Nystagmus and Kabuki Syndrome 1. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include growth factor activity.

UniProtKB/Swiss-Prot for CSPG5 Gene

  • May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation.

Gene Wiki entry for CSPG5 Gene

Additional gene information for CSPG5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSPG5 Gene

Genomics for CSPG5 Gene

GeneHancer (GH) Regulatory Elements for CSPG5 Gene

Promoters and enhancers for CSPG5 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
GH03J047578 Promoter 1.6 EPDnew Ensembl 650.7 +2.2 2191 1.2 KLF1 AHR LEF1 FUS RB1 ERF ZIC2 ZNF48 RBPJ ZFHX2 CSPG5 DHX30 FCF1P2 SETD2 PTPN23 BOLA2P2 ZNF589 ATRIP RN7SL870P
GH03J046941 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.7 +634.3 634313 9.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YBX1 YY1 NBEAL2 CCDC12 PTH1R MYL3 SCAP KLHL18 CSPG5 LRRC2 PRSS45 SETD2
GH03J046924 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +648.0 648006 15.9 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 ZNF766 NBEAL2 PTH1R CCDC12 MYL3 CSPG5 KLHL18 SETD2 ENSG00000273682 GC03P046964
GH03J047511 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.1 +67.9 67938 2.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ELP6 NME6 SETD2 MRPS18AP1 ZNF589 PTPN23 ATRIP CCDC12 BOLA2P2 NBEAL2
GH03J047429 Enhancer 0.7 ENCODE dbSUPER 10.9 +150.9 150906 1.6 FOSL1 STAT1 GATA3 YY1 ELP6 SCAP PTPN23 CSPG5 DHX30 NBEAL2 PTH1R GC03M047419 PIR43961 ENSG00000276925
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CSPG5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSPG5 gene promoter:

Genomic Locations for CSPG5 Gene

Genomic Locations for CSPG5 Gene
chr3:47,562,238-47,580,792
(GRCh38/hg38)
Size:
18,555 bases
Orientation:
Minus strand
chr3:47,603,728-47,622,282
(GRCh37/hg19)

Genomic View for CSPG5 Gene

Genes around CSPG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSPG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSPG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSPG5 Gene

Proteins for CSPG5 Gene

  • Protein details for CSPG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95196-CSPG5_HUMAN
    Recommended name:
    Chondroitin sulfate proteoglycan 5
    Protein Accession:
    O95196
    Secondary Accessions:
    • Q71M39
    • Q71M40

    Protein attributes for CSPG5 Gene

    Size:
    566 amino acids
    Molecular mass:
    60016 Da
    Quaternary structure:
    • Binds TNR and probably TNC (By similarity). Interacts with ERBB3 and GOPC.
    Miscellaneous:
    • Different forms of various molecular weight have been observed. Such forms are possibly due to different levels of glycosylation, phosphorylation and/or protein cleavage (By similarity).

    Alternative splice isoforms for CSPG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSPG5 Gene

Post-translational modifications for CSPG5 Gene

  • N-glycosylated.
  • O-glycosylated; contains chondroitin sulfate glycans. Part-time proteoglycan, expressed in part as a proteoglycan exhibiting chondroitin sulfate glycans and in part as a non-proteoglycan form. The relative amount of both forms depends on tissues and tissues maturation (By similarity).
  • Phosphorylated; in intracellular and extracellular parts.
  • Glycosylation at Thr328, posLast=165165, posLast=117117, and posLast=5757
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CSPG5_HUMAN (657)

Other Protein References for CSPG5 Gene

No data available for DME Specific Peptides for CSPG5 Gene

Domains & Families for CSPG5 Gene

Gene Families for CSPG5 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CSPG5 Gene

Suggested Antigen Peptide Sequences for CSPG5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CSPG5: view

No data available for UniProtKB/Swiss-Prot for CSPG5 Gene

Function for CSPG5 Gene

Molecular function for CSPG5 Gene

UniProtKB/Swiss-Prot Function:
May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation.
GENATLAS Biochemistry:
neuroglycan,neural transmembrane chondroitin sulfate proteoglycan,brain specific

Phenotypes From GWAS Catalog for CSPG5 Gene

Gene Ontology (GO) - Molecular Function for CSPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12885772
GO:0008083 growth factor activity TAS 12885772
genes like me logo Genes that share ontologies with CSPG5: view
genes like me logo Genes that share phenotypes with CSPG5: view

Animal Models for CSPG5 Gene

MGI Knock Outs for CSPG5:

Animal Model Products

  • Taconic Biosciences Mouse Models for CSPG5

miRNA for CSPG5 Gene

miRTarBase miRNAs that target CSPG5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSPG5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSPG5 Gene

Localization for CSPG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSPG5 Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Cell surface. Note=In neurons, localizes to synaptic junctions. Also detected in the endoplasmic reticulum and the Golgi. Partially enriched in lipid rafts. {ECO:0000250 UniProtKB:Q71M36, ECO:0000250 UniProtKB:Q9ERQ6}.

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 CSPG5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
golgi apparatus 5
endoplasmic reticulum 4
lysosome 4
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA,IDA 12885772
genes like me logo Genes that share ontologies with CSPG5: view

Pathways & Interactions for CSPG5 Gene

genes like me logo Genes that share pathways with CSPG5: view

Gene Ontology (GO) - Biological Process for CSPG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 12885772
GO:0010469 regulation of signaling receptor activity IEA --
GO:0030154 cell differentiation IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
genes like me logo Genes that share ontologies with CSPG5: view

No data available for SIGNOR curated interactions for CSPG5 Gene

Drugs & Compounds for CSPG5 Gene

No Compound Related Data Available

Transcripts for CSPG5 Gene

Unigene Clusters for CSPG5 Gene

Chondroitin sulfate proteoglycan 5 (neuroglycan C):
Representative Sequences:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSPG5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSPG5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5
SP1: - -
SP2: -
SP3: -

Relevant External Links for CSPG5 Gene

GeneLoc Exon Structure for
CSPG5
ECgene alternative splicing isoforms for
CSPG5

Expression for CSPG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSPG5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSPG5 Gene

This gene is overexpressed in Brain - Amygdala (x6.2), Brain - Nucleus accumbens (basal ganglia) (x5.4), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Caudate (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.7), Brain - Putamen (basal ganglia) (x4.7), Brain - Cortex (x4.5), and Brain - Hippocampus (x4.5).

Protein differential expression in normal tissues from HIPED for CSPG5 Gene

This gene is overexpressed in Fetal Brain (31.0), Cerebrospinal fluid (23.0), Frontal cortex (7.9), and Esophagus (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CSPG5 Gene



Protein tissue co-expression partners for CSPG5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSPG5 Gene:

CSPG5

SOURCE GeneReport for Unigene cluster for CSPG5 Gene:

Hs.45127

mRNA Expression by UniProt/SwissProt for CSPG5 Gene:

O95196-CSPG5_HUMAN
Tissue specificity: Restricted to brain (at protein level).

Evidence on tissue expression from TISSUES for CSPG5 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with CSPG5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CSPG5 Gene

Orthologs for CSPG5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSPG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSPG5 34 33
  • 99.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSPG5 34 33
  • 89.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSPG5 34 33
  • 89.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cspg5 16 34 33
  • 85.63 (n)
rat
(Rattus norvegicus)
Mammalia Cspg5 33
  • 85.45 (n)
oppossum
(Monodelphis domestica)
Mammalia CSPG5 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSPG5 34
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cspg5a 34
  • 36 (a)
OneToMany
cspg5b 34
  • 28 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9906 33
Species where no ortholog for CSPG5 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • worm (Caenorhabditis elegans)

Evolution for CSPG5 Gene

ENSEMBL:
Gene Tree for CSPG5 (if available)
TreeFam:
Gene Tree for CSPG5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSPG5: view image

Paralogs for CSPG5 Gene

No data available for Paralogs for CSPG5 Gene

Variants for CSPG5 Gene

Sequence variations from dbSNP and Humsavar for CSPG5 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000195787 -- 47,564,796(-) T/C intron_variant
rs1000215023 -- 47,572,558(-) G/T intron_variant
rs1000247418 -- 47,572,147(-) C/T intron_variant
rs1000283650 -- 47,578,344(-) G/C intron_variant
rs1000291210 -- 47,563,171(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSPG5 Gene

Variant ID Type Subtype PubMed ID
nsv1122064 CNV deletion 24896259
nsv3807 CNV insertion 18451855
nsv428417 CNV loss 18775914
nsv954482 CNV deletion 24416366

Variation tolerance for CSPG5 Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 36.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSPG5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSPG5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSPG5 Gene

Disorders for CSPG5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CSPG5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spontaneous ocular nystagmus
  • ocular nystagmus
kabuki syndrome 1
  • kabuk1
- elite association - COSMIC cancer census association via MalaCards
Search CSPG5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSPG5

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 CSPG5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSPG5 Gene

Publications for CSPG5 Gene

  1. Cloning and chromosomal mapping of the human gene of neuroglycan C (NGC), a neural transmembrane chondroitin sulfate proteoglycan with an EGF module. (PMID: 9950058) Yasuda Y … Oohira A (Neuroscience research 1998) 2 3 4 22 58
  2. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 44 58
  3. Expression and identification of a new splice variant of neuroglycan C, a transmembrane chondroitin sulfate proteoglycan, in the human brain. (PMID: 16299773) Aono S … Oohira A (Journal of neuroscience research 2006) 3 22 58
  4. Neuroglycan C, a novel member of the neuregulin family. (PMID: 15358134) Kinugasa Y … Higashiyama S (Biochemical and biophysical research communications 2004) 3 4 58
  5. CALEB/NGC interacts with the Golgi-associated protein PIST. (PMID: 12885772) Hassel B … Schumacher S (The Journal of biological chemistry 2003) 3 4 58

Products for CSPG5 Gene

Sources for CSPG5 Gene

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