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CCN4 cellular communication network factor 4 [ Homo sapiens (human) ]

Gene ID: 8840, updated on 2-Nov-2024

Summary

Official Symbol
CCN4provided by HGNC
Official Full Name
cellular communication network factor 4provided by HGNC
Primary source
HGNC:HGNC:12769
See related
Ensembl:ENSG00000104415 MIM:603398; AllianceGenome:HGNC:12769
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
WISP1; WISP1c; WISP1i; WISP1tc; WISP1-OT1; WISP1-UT1
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 domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
Expression
Broad expression in endometrium (RPKM 7.1), adrenal (RPKM 6.0) and 17 other tissues See more
Orthologs
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Genomic context

See CCN4 in Genome Data Viewer
Location:
8q24.22
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (133191039..133231690)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (134314374..134355795)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (134203282..134243933)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene thyroglobulin Neighboring gene papillary thyroid carcinoma susceptibility candidate 1 Neighboring gene Src like adaptor Neighboring gene uncharacterized LOC105375769 Neighboring gene NANOG hESC enhancer GRCh37_chr8:134157066-134157567 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134194436-134195635 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:134204154-134204401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134208271-134208770 Neighboring gene uncharacterized LOC102723635 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134224019-134225218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19560 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134229946-134231145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134234981-134235482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27993 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134272289-134272788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134277906-134278406 Neighboring gene N-myc downstream regulated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:134297442-134297942 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:134305980-134307179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19562 Neighboring gene ribosomal protein L32 pseudogene 20

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
EBI GWAS Catalog
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ14388

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 Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in bone development IEA
Inferred from Electronic Annotation
more info
 
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 glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of smooth muscle cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of wound healing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
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 extracellular space NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
CCN family member 4
Names
WISP1 3'UTR-associated RNA 1
WISP1 overlapping transcript 1 (non-protein coding)
WNT1 induced secreted protein 1
WNT1 inducible signaling pathway protein 1

NCBI Reference Sequences (RefSeq)

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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_029529.2 RefSeqGene

    Range
    5002..45653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204869.2NP_001191798.1  CCN family member 4 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two consecutive exons in the coding region, as compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AB034725, AF192304, AI347990, AY196488, BX476382
    Consensus CDS
    CCDS56555.1
    UniProtKB/Swiss-Prot
    O95388
    Related
    ENSP00000427744.1, ENST00000517423.5
    Conserved Domains (1) summary
    pfam00219
    Location:49101
    IGFBP; Insulin-like growth factor binding protein
  2. NM_001204870.2NP_001191799.1  CCN family member 4 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001191799.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three internal exons in the coding region, as compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AF192304, AI347990, AY196486, BX476382
    Consensus CDS
    CCDS56556.1
    UniProtKB/Swiss-Prot
    O95388
    Related
    ENSP00000429185.1, ENST00000519433.1
    Conserved Domains (1) summary
    cl21545
    Location:35117
    GHB_like; Glycoprotein hormone beta chain homologues
  3. NM_003882.4NP_003873.1  CCN family member 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the full length protein (isoform 1).
    Source sequence(s)
    AF192304, AI347990, AK293031
    Consensus CDS
    CCDS6371.1
    UniProtKB/Swiss-Prot
    A8KAG6, E7EMM5, O95388, Q5JBS6, Q5JBS7, Q5JBS8, Q9HCS3
    UniProtKB/TrEMBL
    B0AZN1
    Related
    ENSP00000250160.5, ENST00000250160.11
    Conserved Domains (3) summary
    smart00209
    Location:220260
    TSP1; Thrombospondin type 1 repeats
    smart00214
    Location:123181
    VWC; von Willebrand factor (vWF) type C domain
    pfam00219
    Location:49101
    IGFBP; Insulin-like growth factor binding protein
  4. NM_080838.3NP_543028.1  CCN family member 4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_543028.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. Isoform 2 encoded by this variant thus lacks a von Willbrand type C module that is thought to participate in protein complex formation. This variant is overexpressed in scirrhous carcinomas.
    Source sequence(s)
    AB034725, AF192304, AI347990, BX476382, DN997366
    Consensus CDS
    CCDS6372.1
    UniProtKB/Swiss-Prot
    O95388
    Related
    ENSP00000220856.6, ENST00000220856.6
    Conserved Domains (2) summary
    smart00209
    Location:133173
    TSP1; Thrombospondin type 1 repeats
    pfam00219
    Location:49101
    IGFBP; Insulin-like growth factor binding protein

RNA

  1. NR_037944.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks internal two exons, resulting in an immature translation termination, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate.
    Source sequence(s)
    AF192304, AI347990, AK301508

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    133191039..133231690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447319.2XP_024303087.1  CCN family member 4 isoform X1

    Conserved Domains (2) summary
    smart00209
    Location:142182
    TSP1; Thrombospondin type 1 repeats
    smart00214
    Location:45103
    VWC; von Willebrand factor (vWF) type C domain
  2. XM_047422392.1XP_047278348.1  CCN family member 4 isoform X2

  3. XM_024447321.2XP_024303089.1  CCN family member 4 isoform X3

    Conserved Domains (2) summary
    smart00209
    Location:3777
    TSP1; Thrombospondin type 1 repeats
    cl21545
    Location:97179
    GHB_like; Glycoprotein hormone beta chain homologues

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    134314374..134355795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361447.1XP_054217422.1  CCN family member 4 isoform X4

  2. XM_054361444.1XP_054217419.1  CCN family member 4 isoform X1

  3. XM_054361445.1XP_054217420.1  CCN family member 4 isoform X2

  4. XM_054361446.1XP_054217421.1  CCN family member 4 isoform X3