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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACTR3C
actin related protein 3C
Chromosome 7 Β· 7q36.1
NCBI Gene: 653857Ensembl: ENSG00000106526.13HGNC: HGNC:37282UniProt: Q9C0K3
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeneurodegenerative diseasemultiple sclerosisArthropathyAutosomal dominant striatal neurodegeneration
✦AI Summary

ACTR3C (actin-related protein 3C) is a gene located on chromosome 7 that may function in cellular processes related to tissue remodeling and mechanical response. The gene has been identified as one of the top hypermethylated genes in keloid tissue compared to normal skin 1, suggesting altered epigenetic regulation in this fibroproliferative disorder. ACTR3C ranked among the top 10 statistically significant differentially methylated genes in keloid pathogenesis 2, indicating potential involvement in the aberrant wound healing response characteristic of keloids. More recently, ACTR3C was found to be significantly regulated within tight junction signaling pathways in human growth plate cartilage subjected to biomechanical loading 3, suggesting a role in mechanotransduction and cellular response to mechanical stress. The Gene Ontology annotation indicating localization to extracellular exosomes implies potential involvement in intercellular communication. While UniProt suggests a role in suppressing metastatic potential in lung adenocarcinoma, this function is not supported by the provided abstracts. Further investigation is needed to establish ACTR3C's specific molecular mechanisms and its clinical relevance beyond its association with altered methylation patterns in keloid tissue.

Sources cited
1
ACTR3C is one of the top 10 hypermethylated genes in keloid tissue compared to normal skin
PMID: 27312686
2
ACTR3C ranked among the top 10 statistically significant differentially methylated genes between keloid and normal tissue
PMID: 26990118
3
ACTR3C is significantly regulated in tight junction signaling pathways in biomechanically loaded human growth plate cartilage
PMID: 39655393
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.20Weak
ArthropathyOpen Targets
0.19Weak
Autosomal dominant striatal neurodegenerationOpen Targets
0.04Suggestive
placental retentionOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
brain aneurysmOpen Targets
0.04Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
KeloidOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
adrenal cortex carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
oligodendrogliomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ACTG1Protein interaction98%ACTBProtein interaction97%HCLS1Protein interaction97%WASProtein interaction97%WASLProtein interaction97%ARPC5Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Lung
10%
Brain
7%
Ovary
7%
Bone Marrow
7%
Heart
4%
Gene Interaction Network
Click a node to explore
ACTR3CACTG1ACTBHCLS1WASWASLARPC5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9C0K3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.45–1.05]
RankingsWhere ACTR3C stands among ~20K protein-coding genes
  • #16,083of 20,598
    Most Researched13
  • #10,452of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedACTR3C
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Biological significance of genome-wide DNA methylation profiles in keloids.
PMID: 27312686
Laryngoscope Β· 2017
1.00
2
Causal network analysis of head and neck keloid tissue identifies potential master regulators.
PMID: 26990118
Laryngoscope Β· 2016
0.67
3
Genomic Effects of Biomechanical Loading in Adolescent Human Growth Plate Cartilage: A Pilot Study.
PMID: 39655393
Cartilage Β· 2024
0.33