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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACTR2
actin related protein 2
Chromosome 2 · 2p14
NCBI Gene: 10097Ensembl: ENSG00000138071.16HGNC: HGNC:169UniProt: P61160
256PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of double-strand break repair via nonhomologous end joiningcilium assemblyactin filament bindingstructural constituent of cytoskeletonneurodegenerative diseasecutaneous Leishmaniasisneuroinflammatory disorderaortic stenosis
✦AI Summary

ACTR2 (actin-related protein 2) is an ATP-binding component of the Arp2/3 complex that nucleates branched actin filament networks essential for cellular motility 1. Beyond its canonical cytoplasmic role in lamellipodia formation and cell migration, ACTR2 participates in nuclear actin polymerization regulating transcription and DNA repair 23. The protein promotes homologous recombination repair by facilitating nuclear actin polymerization and double-strand break motility 3. In oocyte meiosis, ACTR2 maintains proper spindle assembly and cortical positioning through autophagy regulation 4. ACTR2 expression is transcriptionally regulated by YAP/TAZ mechanosignaling and contributes to nuclear envelope integrity via the perinuclear actin cap 5. Disease relevance spans multiple conditions: ACTR2 is differentially expressed in recurrent pregnancy loss and miscarriage, with studies identifying it as a potential therapeutic target 67. Genetic variants near ACTR2 associate with calcific aortic stenosis susceptibility through effects on dyslipidemia and inflammation pathways 8. In bladder cancer, elevated ACTR2 expression promotes pseudopodia formation and metastasis through actin nucleation 9. ACTR2 upregulation during human oocyte maturation suggests roles in meiotic progression 10. These findings establish ACTR2 as a multifunctional cytoskeletal regulator with implications for reproductive health, cardiovascular disease, and cancer metastasis.

Sources cited
1
ACTR2 is an ATP-binding component of the Arp2/3 complex mediating actin polymerization and branched actin network formation for cell motility
PMID: 9000076
2
Arp2/3 complex promotes nuclear actin polymerization regulating gene transcription and DNA repair
PMID: 17220302
3
Arp2/3 complex promotes homologous recombination repair through nuclear actin polymerization and double-strand break motility
PMID: 29925947
4
ACTR2 maintains spindle assembly and cortical migration in oocyte meiosis through autophagy regulation and PtdIns(4,5)P2 signaling
PMID: 38513669
5
ACTR2 expression is transcriptionally regulated by YAP/TAZ and contributes to nuclear envelope integrity via the perinuclear actin cap
PMID: 35768505
6
ACTR2 is a macrophage-associated marker gene with altered expression in recurrent miscarriage, representing a potential therapeutic target
PMID: 36439123
7
ACTR2 is identified as a hub gene with diagnostic value for recurrent pregnancy loss, showing downregulated expression
PMID: 37691920
8
ACTR2 differential expression is associated with calcific aortic stenosis susceptibility through dyslipidemia and inflammation pathways
PMID: 37038246
9
ACTR2 is upregulated in bladder cancer tumors and participates in pseudopodia formation and metastasis through actin nucleation
PMID: 39084455
10
ACTR2 is upregulated during human oocyte transition from germinal vesicle to metaphase I stage and involved in cell division and signal transduction
PMID: 40359387
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
cutaneous LeishmaniasisOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
aortic stenosisOpen Targets
0.36Weak
Alzheimer diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.31Weak
lysosomal storage diseaseOpen Targets
0.31Weak
psoriasisOpen Targets
0.30Weak
aortic valve calcificationOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
aortic valve diseaseOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
heart valve prosthesisOpen Targets
0.26Weak
coronary artery diseaseOpen Targets
0.26Weak
autoimmune diseaseOpen Targets
0.21Weak
kidney diseaseOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
neuromuscular diseaseOpen Targets
0.09Suggestive
Pathogenic Variants1
NM_005722.4(ACTR2):c.752_753del (p.Ile251fs)Likely pathogenic
Intellectual disability
★☆☆☆2024→ Residue 251
View on ClinVar ↗
Related Genes
CAPZA2Protein interaction100%NCKAP1LProtein interaction100%WASProtein interaction100%WIPF1Protein interaction100%WASF1Protein interaction100%GMFGProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
37%
Heart
34%
Lung
32%
Liver
19%
Ovary
12%
Gene Interaction Network
Click a node to explore
ACTR2CAPZA2NCKAP1LWASWIPF1WASF1GMFG
PROTEIN STRUCTURE
Preparing viewer…
PDB9I2B · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.06 [0.02–0.18]
RankingsWhere ACTR2 stands among ~20K protein-coding genes
  • #1,498of 20,598
    Most Researched256 · top 10%
  • #4,690of 5,498
    Most Pathogenic Variants1
  • #329of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedACTR2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
YAP/TAZ activity in stromal cells prevents ageing by controlling cGAS-STING.
PMID: 35768505
Nature · 2022
1.00
2
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
PMID: 37038246
Eur Heart J · 2023
0.90
3
Identification and validation of a signature based on macrophage cell marker genes to predict recurrent miscarriage by integrated analysis of single-cell and bulk RNA-sequencing.
PMID: 36439123
Front Immunol · 2022
0.80
4
PLD1 promotes spindle assembly and migration through regulating autophagy in mouse oocyte meiosis.
PMID: 38513669
Autophagy · 2024
0.70
5
Should it stay or should it go: gap junction protein GJA1/Cx43 conveys damaged lysosomes to the cell periphery to potentiate exocytosis.
PMID: 39394955
Autophagy · 2024
0.64