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    CSPG5 chondroitin sulfate proteoglycan 5 [ Homo sapiens (human) ]

    Gene ID: 10675, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CSPG5provided by HGNC
    Official Full Name
    chondroitin sulfate proteoglycan 5provided by HGNC
    Primary source
    HGNC:HGNC:2467
    See related
    Ensembl:ENSG00000114646 MIM:606775; AllianceGenome:HGNC:2467
    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
    NGC
    Summary
    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]
    Expression
    Restricted expression toward brain (RPKM 49.7) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p21.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (47562238..47580240, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (47581316..47599318, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47603728..47621730, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47584435-47584935 Neighboring gene RNA, 7SL, cytoplasmic 870, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47613774-47614274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47614275-47614775 Neighboring gene Sharpr-MPRA regulatory region 12920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:47620980-47621684 Neighboring gene uncharacterized LOC124906234 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 Neighboring gene small nucleolar RNA, C/D box 146

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Expression and identification of a new splice variant of neuroglycan C, a transmembrane chondroitin sulfate proteoglycan, in the human brain. Aono S, et al. J Neurosci Res, 2006 Jan. PMID 16299773
    2. Chondroitin sulfate proteoglycan-5 forms perisynaptic matrix assemblies in the adult rat cortex. Pintér A, et al. Cell Signal, 2020 Oct. PMID 32653642
    3. Cloning and chromosomal mapping of the human gene of neuroglycan C (NGC), a neural transmembrane chondroitin sulfate proteoglycan with an EGF module. Yasuda Y, et al. Neurosci Res, 1998 Dec. PMID 9950058
    4. Neuroglycan C is a novel midkine receptor involved in process elongation of oligodendroglial precursor-like cells. Ichihara-Tanaka K, et al. J Biol Chem, 2006 Oct 13. PMID 16901907
    5. CALEB/NGC interacts with the Golgi-associated protein PIST. Hassel B, et al. J Biol Chem, 2003 Oct 10. PMID 12885772

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Chondroitin sulfate proteoglycan-5 forms perisynaptic matrix assemblies in the adult rat cortex.
      Title: Chondroitin sulfate proteoglycan-5 forms perisynaptic matrix assemblies in the adult rat cortex.
    2. results suggest that NGC may be a novel candidate gene, and neuregulin signaling pathways may play an important role in schizophrenia
      Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
    4. NGC IV, which was first found in the present study, had the shortest cytoplasmic domain among the four variants
      Title: Expression and identification of a new splice variant of neuroglycan C, a transmembrane chondroitin sulfate proteoglycan, in the human brain.
    5. neuroglycan C is a novel component of midkine receptors involved in process elongation
      Title: Neuroglycan C is a novel midkine receptor involved in process elongation of oligodendroglial precursor-like cells.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC44034

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glial cell projection elongation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi-associated vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    chondroitin sulfate proteoglycan 5
    Names
    acidic leucine-rich EGF-like domain-containing brain protein
    chondroitin sulfate proteoglycan 5 (neuroglycan C)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029493.1 RefSeqGene

      Range
      6376..23003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206942.2 → NP_001193871.1  chondroitin sulfate proteoglycan 5 isoform 2

      See identical proteins and their annotated locations for NP_001193871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 3. The resulting isoform (2) is shorter at the N-terminus and lacks an internal segment compared to isoform 3.
      Source sequence(s)
      AC112512, AK294621, BU732090
      Consensus CDS
      CCDS56252.1
      UniProtKB/TrEMBL
      B7Z2E0
      Conserved Domains (2) summary
      pfam06566
      Location:1 → 134
      Chon_Sulph_att; Chondroitin sulphate attachment domain
      pfam06567
      Location:309 → 400
      Neural_ProG_Cyt; Neural chondroitin sulphate proteoglycan cytoplasmic domain

    2. NM_001206943.2 → NP_001193872.1  chondroitin sulfate proteoglycan 5 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001193872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC112512, AF461089, BU732090
      Consensus CDS
      CCDS56253.1
      UniProtKB/Swiss-Prot
      O95196, Q71M39, Q71M40
      Related
      ENSP00000373244.2, ENST00000383738.6
      Conserved Domains (2) summary
      pfam06566
      Location:33 → 272
      Chon_Sulph_att; Chondroitin sulphate attachment domain
      pfam06567
      Location:447 → 565
      Neural_ProG_Cyt; Neural chondroitin sulphate proteoglycan cytoplasmic domain

    3. NM_001206944.2 → NP_001193873.1  chondroitin sulfate proteoglycan 5 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate coding exon compared to variant 3, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 3.
      Source sequence(s)
      AC112512, AF461087, BU732090
      Consensus CDS
      CCDS74930.1
      UniProtKB/TrEMBL
      A0A087WUT8
      Related
      ENSP00000478923.1, ENST00000610462.1
      Conserved Domains (2) summary
      pfam01683
      Location:359 → 412
      EB; EB module
      pfam06566
      Location:33 → 272
      Chon_Sulph_att; Chondroitin sulphate attachment domain

    4. NM_001206945.2 → NP_001193874.1  chondroitin sulfate proteoglycan 5 isoform 5

      See identical proteins and their annotated locations for NP_001193874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (5) is shorter at the N-terminus compared to isoform 3.
      Source sequence(s)
      AC112512, AK294621, BU732090
      UniProtKB/TrEMBL
      B7Z2E0
      Conserved Domains (2) summary
      pfam06566
      Location:1 → 134
      Chon_Sulph_att; Chondroitin sulphate attachment domain
      pfam06567
      Location:309 → 427
      Neural_ProG_Cyt; Neural chondroitin sulphate proteoglycan cytoplasmic domain

    5. NM_006574.4 → NP_006565.2  chondroitin sulfate proteoglycan 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006565.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame segment compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      AF461087, AW003890, BM674119, DB636494
      Consensus CDS
      CCDS2757.1
      UniProtKB/Swiss-Prot
      O95196
      Related
      ENSP00000264723.4, ENST00000264723.9
      Conserved Domains (2) summary
      pfam06566
      Location:33 → 272
      Chon_Sulph_att; Chondroitin sulphate attachment domain
      pfam06567
      Location:447 → 538
      Neural_ProG_Cyt; Neural chondroitin sulphate proteoglycan cytoplasmic domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      47562238..47580240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447332.1 → XP_047303288.1  chondroitin sulfate proteoglycan 5 isoform X1

      Related
      ENSP00000392096.1, ENST00000456150.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      47581316..47599318 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344989.1 → XP_054200964.1  chondroitin sulfate proteoglycan 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95196.3 GenPept UniProtKB/Swiss-Prot:O95196

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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