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GeneE
2 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.
ACTR5
actin related protein 5
Chromosome 20 Β· 20q11.23
NCBI Gene: 79913Ensembl: ENSG00000101442.11HGNC: HGNC:14671UniProt: Q9H9F9
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusIno80 complexregulation of DNA strand elongationUV-damage excision repairneurodegenerative diseaseschizophreniaangina pectorisinborn disorder of amino acid metabolism
✦AI Summary

Based on limited published evidence, ACTR5 is a proposed core component of the INO80 chr20 remodeling complex involved in transcriptional regulation, DNA replication, and DNA repair. UniProt annotations indicate roles in DNA double-strand break repair, UV-damage excision repair, and regulation of DNA-templated transcription. Recent studies identified ACTR5 variants in childhood-onset systemic lupus erythematosus, where a de novo variant enhanced type I interferon signaling 1, and in recessive intellectual disability 2, suggesting potential involvement in immune and neurological pathways, though mechanisms require further investigation.

Sources cited
1
De novo ACTR5 variant identified in childhood-onset SLE that enhanced type I IFN signaling, suggesting role in autoimmune pathogenesis
PMID: 40386946
2
ACTR5 identified as novel candidate gene associated with recessive intellectual disability through WES reanalysis
PMID: 39748273
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.53Moderate
schizophreniaOpen Targets
0.34Weak
angina pectorisOpen Targets
0.30Weak
inborn disorder of amino acid metabolismOpen Targets
0.29Weak
duodenitisOpen Targets
0.19Weak
smoking initiationOpen Targets
0.16Weak
anorexia nervosaOpen Targets
0.12Weak
coronary artery bypassOpen Targets
0.12Weak
major depressive episodeOpen Targets
0.12Weak
obesityOpen Targets
0.12Weak
obsessive-compulsive disorderOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.06Suggestive
diverticular diseaseOpen Targets
0.06Suggestive
restless legs syndromeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
coronary atherosclerosisOpen Targets
0.02Suggestive
rhabdomyosarcomaOpen Targets
0.02Suggestive
intelligenceOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ACTL6AProtein interaction100%YY1Protein interaction100%RUVBL1Protein interaction100%SRCAPProtein interaction100%RUVBL2Protein interaction100%BRD8Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
86%
Liver
58%
Lung
53%
Heart
34%
Brain
28%
Gene Interaction Network
Click a node to explore
ACTR5ACTL6AYY1RUVBL1SRCAPRUVBL2BRD8
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZI4 Β· 3.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.99LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.61–0.99]
RankingsWhere ACTR5 stands among ~20K protein-coding genes
  • #8,390of 20,598
    Most Researched53
  • #9,441of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedACTR5
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
PMID: 40386946
Arthritis Rheumatol Β· 2025
1.00
2
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.
PMID: 39748273
Clin Genet Β· 2025
0.50