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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCN6
cellular communication network factor 6
Chromosome 6 Β· 6q21
NCBI Gene: 8838Ensembl: ENSG00000112761.22HGNC: HGNC:12771UniProt: A0A384NYW3
78PubMed Papers
21Diseases
0Drugs
69Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of angiogenesismitochondrionnegative regulation of cell population proliferationregulation of mitochondrial membrane potentialprogressive pseudorheumatoid arthropathy of childhoodgenetic disorderaortic aneurysminborn disorder of amino acid metabolism
✦AI Summary

CCN6 (cellular communication network factor 6) is a matricellular protein with dual functions as both a secreted signaling molecule and an intracellular regulator of mitochondrial function. As a secreted protein, CCN6 acts as a tumor suppressor in breast cancer by antagonizing Wnt/Ξ²-catenin signaling through interaction with FZD8 and LRP6 receptors, thereby preventing epithelial-to-mesenchymal transition and inhibiting EZH2-driven metastasis 1. CCN6 expression is reduced in aggressive breast cancer phenotypes, particularly metaplastic carcinomas, where it normally maintains epithelial phenotype and inhibits tumor progression 2. Intracellularly, CCN6 localizes to mitochondria and regulates electron transport chain activity, mitochondrial respiration, and ATP synthesis 3. It also functions in transcriptional regulation by associating with RNA Polymerase II and controlling expression of mitochondrial electron transport complex genes 4. CCN6 protein levels are regulated by the ubiquitin-proteasome system, with OTUB1 acting as a deubiquitinating enzyme that stabilizes CCN6 through non-canonical mechanisms 5. Mutations in CCN6 cause Progressive Pseudorheumatoid Dysplasia, likely through impaired mitochondrial function affecting cartilage and muscle homeostasis 4.

Sources cited
1
CCN6 antagonizes Wnt/Ξ²-catenin signaling by interacting with FZD8 and LRP6 receptors to prevent EZH2-driven EMT in metaplastic breast carcinoma
PMID: 39024552
2
CCN6 is reduced in aggressive breast cancer phenotypes and acts as a tumor suppressor in metaplastic carcinomas
PMID: 29357008
3
CCN6 localizes to mitochondria and regulates electron transport chain activity, mitochondrial respiration, and ATP synthesis
PMID: 27252383
4
CCN6 associates with RNA Polymerase II and controls transcription of mitochondrial electron transport complex genes
PMID: 36794678
5
OTUB1 stabilizes CCN6 protein levels through non-canonical deubiquitination mechanisms
PMID: 37608493
Disease Associationsβ“˜21
progressive pseudorheumatoid arthropathy of childhoodOpen Targets
0.81Strong
genetic disorderOpen Targets
0.47Moderate
aortic aneurysmOpen Targets
0.34Weak
inborn disorder of amino acid metabolismOpen Targets
0.30Weak
aneurysmOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.25Weak
subarachnoid hemorrhageOpen Targets
0.23Weak
pericarditisOpen Targets
0.22Weak
Townes-Brocks syndromeOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
Inguinal herniaOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
HerniaOpen Targets
0.10Suggestive
chondrosarcomaOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
tuberculosisOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
sarcoidosisOpen Targets
0.07Suggestive
Progressive pseudorheumatoid dysplasiaUniProt
Pathogenic Variants69
NM_198239.2(CCN6):c.862_863dup (p.Gln289fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided|CCN6-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 289
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 197
NM_198239.2(CCN6):c.624dup (p.Cys209fs)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 209
NM_198239.2(CCN6):c.116C>A (p.Ser39Ter)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 39
NM_198239.2(CCN6):c.1A>G (p.Met1Val)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)Pathogenic
Progressive pseudorheumatoid dysplasia|See cases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 52
NM_198239.2(CCN6):c.197G>A (p.Ser66Asn)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr)Pathogenic
Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 78
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)Pathogenic
Inborn genetic diseases|Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 337
NM_198239.2(CCN6):c.49-1G>APathogenic
not provided|Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2025
NM_198239.2(CCN6):c.868_869del (p.Ser290fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 290
NM_198239.2(CCN6):c.246del (p.Glu84fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 84
NM_198239.2(CCN6):c.40_44del (p.Leu14fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 14
NM_198239.2(CCN6):c.536_537del (p.Asn178_Cys179insTer)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 178
NM_198239.2(CCN6):c.740_741del (p.Cys247fs)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 247
NM_198239.2(CCN6):c.149G>A (p.Trp50Ter)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 50
NM_198239.2(CCN6):c.296_298delinsTTA (p.Tyr99_Cys100delinsPheSer)Pathogenic
Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2023β†’ Residue 99
NM_198239.2(CCN6):c.707del (p.Ser236fs)Pathogenic
not provided|Progressive pseudorheumatoid dysplasia
β˜…β˜…β˜†β˜†2023β†’ Residue 236
NM_198239.2(CCN6):c.667T>G (p.Cys223Gly)Pathogenic
Progressive pseudorheumatoid dysplasia|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 223
NM_198239.2(CCN6):c.783+1_783+6delPathogenic
not provided
β˜…β˜†β˜†β˜†2026
View on ClinVar β†—
Related Genes
CCN5Shared pathway38%STAB1Shared pathway27%SIGLEC6Shared pathway25%CCN2Shared pathway21%CD33Shared pathway21%SLURP1Shared pathway20%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
60%
Ovary
59%
Lung
26%
Heart
22%
Brain
15%
Gene Interaction Network
Click a node to explore
CCN6CCN5STAB1SIGLEC6CCN2CD33SLURP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95389
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.59–1.05]
RankingsWhere CCN6 stands among ~20K protein-coding genes
  • #6,053of 20,598
    Most Researched78
  • #1,055of 5,498
    Most Pathogenic Variants69 Β· top quartile
  • #10,580of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedCCN6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CCN6 Suppresses Metaplastic Breast Carcinoma by Antagonizing Wnt/Ξ²-Catenin Signaling to Inhibit EZH2-Driven EMT.
PMID: 39024552
Cancer Res Β· 2024
1.00
2
CCN6 enhances ICAM-1 expression and cell motility in human chondrosarcoma cells.
PMID: 21391218
J Cell Physiol Β· 2012
0.90
3
Analysis of CCN6 in the Context of Human Health and Disease: Current Insights and Unexplored Frontiers.
PMID: 41837718
FASEB J Β· 2026
0.80
4
Matricellular CCN6 (WISP3) protein: a tumor suppressor for mammary metaplastic carcinomas.
PMID: 29357008
J Cell Commun Signal Β· 2018
0.70
5
CCN6 influences transcription and controls mitochondrial mass and muscle organization.
PMID: 36794678
FASEB J Β· 2023
0.60