Format

Send to:

Choose Destination

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

Gene ID: 8839, updated on 22-Aug-2020

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
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

Genomic context

See CCN5 in Genome Data Viewer
Location:
20q13.12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (44714204..44728041)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43343493..43356453)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene distal ADA Alu-mediated recombination region Neighboring gene long intergenic non-protein coding RNA 1260 Neighboring gene KCNK15 and WISP2 antisense RNA 1 Neighboring gene potassium two pore domain channel subfamily K member 15 Neighboring gene regulating synaptic membrane exocytosis 4 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

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
insulin-like growth factor binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    O76076
    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
    O76076
    Related
    ENSP00000190983.4, ENST00000190983.4
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    44714204..44728041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028117.1XP_016883606.1  CCN family member 5 isoform X2

  2. XM_017028116.1XP_016883605.1  CCN family member 5 isoform X1

Support Center