Format

Send to:

Choose Destination

CCN6 cellular communication network factor 6 [ Homo sapiens (human) ]

Gene ID: 8838, updated on 2-Mar-2021

Summary

Official Symbol
CCN6provided by HGNC
Official Full Name
cellular communication network factor 6provided by HGNC
Primary source
HGNC:HGNC:12771
See related
Ensembl:ENSG00000112761 MIM:603400
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
PPD; LIBC; PPAC; PPRD; WISP3; WISP-3
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 is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 1.0), skin (RPKM 0.5) and 4 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CCN6 in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (112052813..112069686)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (112375307..112390889)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2527 Neighboring gene uncharacterized LOC105377947 Neighboring gene tubulin epsilon 1 Neighboring gene family with sequence similarity 229 member B

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125987, MGC125988, MGC125989

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
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 
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 angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of reactive oxygen species biosynthetic process IMP
Inferred from Mutant Phenotype
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 
extracellular space NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cellular communication network factor 6
Names
CCN family member 6
WNT1 inducible signaling pathway protein 3
epididymis secretory sperm binding protein

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.

Genomic

  1. NG_011748.1 RefSeqGene

    Range
    5001..20612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003880.4NP_003871.1  cellular communication network factor 6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_003871.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate splice pattern near the 5' end and uses a downstream start codon, compared to variant 3. The resulting isoform (1) has a shorter N-terminus, compared to isoform 3.
    Source sequence(s)
    AL512299, BC012028, BC035250, BC105941
    Consensus CDS
    CCDS5098.1
    UniProtKB/Swiss-Prot
    O95389
    UniProtKB/TrEMBL
    I6L968
    Related
    ENSP00000230529.5, ENST00000230529.9
    Conserved Domains (2) summary
    pfam00219
    Location:48100
    IGFBP; Insulin-like growth factor binding protein
    cl21545
    Location:275341
    GHB_like; Glycoprotein hormone beta chain homologues
  2. NM_198239.2NP_937882.2  cellular communication network factor 6 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).
    Source sequence(s)
    AL512299, Z99289
    Consensus CDS
    CCDS5097.1
    Related
    ENSP00000357655.3, ENST00000368666.6
    Conserved Domains (2) summary
    pfam00219
    Location:48100
    IGFBP; Insulin-like growth factor binding protein
    cl21545
    Location:275341
    GHB_like; Glycoprotein hormone beta chain homologues

RNA

  1. NR_125353.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL512299, BC035250, BC105940
    Related
    ENST00000368664.7
  2. NR_125354.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC012028, BC035250, BG928545
    Related
    ENST00000454589.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    112052813..112069686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536222.2XP_011534524.2  cellular communication network factor 6 isoform X3

    Conserved Domains (1) summary
    pfam00219
    Location:69121
    IGFBP; Insulin-like growth factor binding protein
  2. XM_011536220.1XP_011534522.1  cellular communication network factor 6 isoform X1

    See identical proteins and their annotated locations for XP_011534522.1

    UniProtKB/Swiss-Prot
    O95389
    Conserved Domains (2) summary
    pfam00219
    Location:48100
    IGFBP; Insulin-like growth factor binding protein
    cl21545
    Location:275341
    GHB_like; Glycoprotein hormone beta chain homologues
  3. XM_011536223.3XP_011534525.1  cellular communication network factor 6 isoform X2

    Conserved Domains (1) summary
    cl21545
    Location:81147
    GHB_like; Glycoprotein hormone beta chain homologues

RNA

  1. XR_001743705.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_130396.1: Suppressed sequence

    Description
    NM_130396.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Support Center