CCN2 cellular communication network factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCN2provided by HGNC
Official Full Name: cellular communication network factor 2provided by HGNC
Primary source: HGNC:HGNC:2500
See related: Ensembl:ENSG00000118523 MIM:121009; AllianceGenome:HGNC:2500
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: KMD; CTGF; NOV2; HCS24; IBP-8; IGFBP8; SEMDLSL
Summary: The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
Expression: Broad expression in spleen (RPKM 355.2), gall bladder (RPKM 303.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (131948176..131951372, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (133143212..133146410, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (132269316..132272512, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Extracellular matrix protein 1 binds to connective tissue growth factor against liver fibrosis and ductular reaction.
Title: Extracellular matrix protein 1 binds to connective tissue growth factor against liver fibrosis and ductular reaction.
A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass.
Title: A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass.
The protective effects of pericyte-derived microvesicles on vascular endothelial functions via CTGF delivery in sepsis.
Title: The protective effects of pericyte-derived microvesicles on vascular endothelial functions via CTGF delivery in sepsis.
CCN2/CTGF expression does not correlate with fibrosis in myeloproliferative neoplasms, consistent with noncanonical TGF-beta signaling driving myelofibrosis.
Title: CCN2/CTGF expression does not correlate with fibrosis in myeloproliferative neoplasms, consistent with noncanonical TGF-β signaling driving myelofibrosis.
Characterization of gastric cancer-stimulated signaling pathways and function of CTGF in cancer-associated fibroblasts.
Title: Characterization of gastric cancer-stimulated signaling pathways and function of CTGF in cancer-associated fibroblasts.
CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling.
Title: CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling.
CTGF promotes the repair and regeneration of alveoli after acute lung injury by promoting the proliferation of subpopulation of AEC2s.
Title: CTGF promotes the repair and regeneration of alveoli after acute lung injury by promoting the proliferation of subpopulation of AEC2s.
Human blood vessel organoids reveal a critical role for CTGF in maintaining microvascular integrity.
Title: Human blood vessel organoids reveal a critical role for CTGF in maintaining microvascular integrity.
SPARC accelerates biliary tract cancer progression through CTGF-mediated tumor-stroma interactions: SPARC as a prognostic marker of survival after neoadjuvant therapy.
Title: SPARC accelerates biliary tract cancer progression through CTGF-mediated tumor-stroma interactions: SPARC as a prognostic marker of survival after neoadjuvant therapy.
Hsa-miR-379 down-regulates Rac1/MLK3/JNK/AP-1/Collagen I cascade reaction by targeting connective tissue growth factor in human alveolar basal epithelial A549 cells.
Title: Hsa-miR-379 down-regulates Rac1/MLK3/JNK/AP-1/Collagen I cascade reaction by targeting connective tissue growth factor in human alveolar basal epithelial A549 cells.

Submit: New GeneRIF Correction See all GeneRIFs (561)

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

Associated conditions

Description	Tests
Kyphomelic dysplasia MedGen: C0432239 OMIM: 211350 GeneReviews: Not available	not available
Spondyloepimetaphyseal dysplasia, Li-Shao-Li type MedGen: CN379036 OMIM: 621099 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-12753 (e-PCR)
- UniSTS:65046

ECD03619 (e-PCR)
- UniSTS:284699

ECD16754 (e-PCR)
- UniSTS:297769

ECD22450 (e-PCR)
- UniSTS:303436

RH18002 (e-PCR)
- UniSTS:72291

REN29375 (e-PCR)
- UniSTS:354175

REN29376 (e-PCR)
- UniSTS:354176

REN29377 (e-PCR)
- UniSTS:354177

REN29378 (e-PCR)
- UniSTS:354178

REN29379 (e-PCR)
- UniSTS:354179

REN29380 (e-PCR)
- UniSTS:354180

REN29381 (e-PCR)
- UniSTS:354181

REN29382 (e-PCR)
- UniSTS:354182

D6S2424 (e-PCR)
- UniSTS:40582

REN29383 (e-PCR)
- UniSTS:354183

REN29384 (e-PCR)
- UniSTS:354184

REN29385 (e-PCR)
- UniSTS:354185

REN29386 (e-PCR)
- UniSTS:354186

REN29387 (e-PCR)
- UniSTS:354187

REN29388 (e-PCR)
- UniSTS:354188

REN29389 (e-PCR)
- UniSTS:354189

RH35874 (e-PCR)
- UniSTS:6798

REN29390 (e-PCR)
- UniSTS:354190

REN29391 (e-PCR)
- UniSTS:354191

REN29392 (e-PCR)
- UniSTS:354192

ECD10947 (e-PCR)
- UniSTS:291984

REN29393 (e-PCR)
- UniSTS:354193

REN29394 (e-PCR)
- UniSTS:354194

REN29395 (e-PCR)
- UniSTS:354195

REN29396 (e-PCR)
- UniSTS:354196

REN29397 (e-PCR)
- UniSTS:354197

ECD04257 (e-PCR)
- UniSTS:285335

STS-X78947 (e-PCR)
- UniSTS:44703

ECD02742 (e-PCR)
- UniSTS:283836

ECD03031 (e-PCR)
- UniSTS:284120

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables insulin-like growth factor binding	TAS Traceable Author Statement more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cartilage condensation	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within connective tissue development	IEA Inferred from Electronic Annotation more info
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lung development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within tissue homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: CCN family member 2

Names: IGF-binding protein 8; connective tissue growth factor; hypertrophic chondrocyte-specific protein 24; insulin-like growth factor-binding protein 8

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

NG_016131.2 RefSeqGene

Range

5000..8196

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001901.4 → NP_001892.2 CCN family member 2 precursor

Status: REVIEWED

Source sequence(s)

AL354866

Consensus CDS

CCDS5151.1

UniProtKB/Swiss-Prot

E1P578, P29279, Q6LCY0, Q96A79, Q96QX2, Q9UDL6

UniProtKB/TrEMBL

Q5M8T4

Related

ENSP00000356954.3, ENST00000367976.4

Conserved Domains (4) summary

pfam00093
Location:103 → 163

VWC; von Willebrand factor type C domain

pfam00219
Location:29 → 82

IGFBP; Insulin-like growth factor binding protein

pfam19035
Location:199 → 242

TSP1_CCN; CCN3 Nov like TSP1 domain

cl21545
Location:253 → 345

GHB_like; Glycoprotein hormone beta chain homologues