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    CCN5 cellular communication network factor 5 [ Homo sapiens (human) ]

    Gene ID: 8839, updated on 17-Jun-2024

    Summary

    Official Symbol
    CCN5provided by HGNC
    Official Full Name
    cellular communication network factor 5provided by HGNC
    Primary source
    HGNC:HGNC:12770
    See related
    Ensembl:ENSG00000064205 MIM:603399; AllianceGenome:HGNC:12770
    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
    CT58; WISP2; CTGF-L
    Summary
    This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in ovary (RPKM 59.2), fat (RPKM 22.7) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CCN5 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44714861..44727811)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46450611..46463559)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43343502..43356452)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43299119-43299620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43299621-43300120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43306608-43307108 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43307109-43307609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17940 Neighboring gene uncharacterized LOC124904911 Neighboring gene Sharpr-MPRA regulatory region 14821 Neighboring gene KCNK15 and WISP2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43355350-43355875 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43380582-43381129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:43385377-43386576 Neighboring gene potassium two pore domain channel subfamily K member 15 Neighboring gene regulating synaptic membrane exocytosis 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43401277-43401777 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:43405721-43405858 Neighboring gene piggyBac transposable element derived 4 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of WNT1 inducible signaling pathway protein 2 (WISP2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    CCN family member 5
    Names
    WNT1 inducible signaling pathway protein 2
    connective tissue growth factor-like protein
    connective tissue growth factor-related protein 58

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001323369.2NP_001310298.1  CCN family member 5 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) retains an intron in its 5' UTR, and uses an alternate splice site and lacks an alternate exon in its 5' coding region, resulting in a frameshift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF083500, AL139352, BC058074
      Consensus CDS
      CCDS82619.1
      UniProtKB/Swiss-Prot
      O76076
      Related
      ENSP00000361956.4, ENST00000372865.4
      Conserved Domains (1) summary
      pfam00219
      Location:4278
      IGFBP; Insulin-like growth factor binding protein
    2. NM_001323370.2NP_001310299.1  CCN family member 5 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AL139352, BI823598, BU623413
      Consensus CDS
      CCDS13336.1
      UniProtKB/Swiss-Prot
      B2R9N4, E1P612, O76076, Q6PEG3
      Related
      ENSP00000361959.2, ENST00000372868.6
      Conserved Domains (2) summary
      pfam00219
      Location:4478
      IGFBP; Insulin-like growth factor binding protein
      cl17735
      Location:100160
      VWC; von Willebrand factor type C domain
    3. NM_003881.4NP_003872.1  CCN family member 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_003872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) retains an intron in its 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      BC017782, BU623413
      Consensus CDS
      CCDS13336.1
      UniProtKB/Swiss-Prot
      B2R9N4, E1P612, O76076, Q6PEG3
      Related
      ENSP00000190983.4, ENST00000190983.5
      Conserved Domains (2) summary
      pfam00219
      Location:4478
      IGFBP; Insulin-like growth factor binding protein
      cl17735
      Location:100160
      VWC; von Willebrand factor type C 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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44714861..44727811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46450611..46463559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)