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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ACTR3B
actin related protein 3B
Chromosome 7 · 7q36.1-q36.2
NCBI Gene: 57180Ensembl: ENSG00000133627.19HGNC: HGNC:17256UniProt: Q59GD5
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeactin cytoskeletoncytoskeletonlamellipodiumeye diseaseresponse to stimulusamyotrophic lateral sclerosisalcohol drinking
✦AI Summary

ACTR3B (actin-related protein 3B) is a component of the Arp2/3 complex that regulates actin cytoskeleton organization and branched actin network formation 1. As an ATP-binding protein within this complex, ACTR3B functions together with nucleation-promoting factors to control actin polymerization and is essential for stress fiber formation in fibroblasts 1. The gene plays a critical role in cellular cytoskeletal dynamics, as demonstrated by impaired actin regulation when NSD1-regulated ACTR3B expression is suppressed 1. ACTR3B expression is dysregulated in multiple disease contexts. In colorectal cancer, elevated ACTR3B expression driven by lncRNA AC009022.1 (through miR-497-5p suppression) promotes cell proliferation, migration, and invasion 2. Conversely, ACTR3B expression is downregulated in diffuse large B-cell lymphoma associated with high PD-L1 or IDO1 expression 3. ACTR3B has also been identified as differentially expressed in non-obstructive azoospermia spermatogenic cells 4 and in kidney tissue of female offspring exposed to paternal pre-conceptional unhealthy diet 5. Additionally, ACTR3B functions as a hub gene associated with normal brain aging processes 6, and variants in ACTR3B have been identified in cemento-ossifying fibroma tumors 7 and pregnancy-related complications 8.

Sources cited
1
ACTR3B is a target gene of NSD1 isoform AT2; loss of NSD1 and AT2 impairs actin cytoskeleton regulation and stress fiber formation in fibroblasts
PMID: 39336709
2
lncRNA AC009022.1 promotes ACTR3B expression via miR-497-5p suppression, enhancing colorectal cancer cell proliferation, migration, and invasion
PMID: 31637768
3
ACTR3B expression is downregulated in diffuse large B-cell lymphoma patients with high PD-L1 or IDO1 expression
PMID: 29936139
4
ACTR3B is identified as a hub gene in the blue module associated with human brain aging processes
PMID: 30210331
5
ACTR3B expression is upregulated in spermatogenic cells of non-obstructive azoospermia patients; involved in cytoskeleton-dependent cellular processes
PMID: 39863862
6
Actr3b is differentially regulated in kidneys of female F2 offspring exposed to paternal pre-conceptional unhealthy diet
PMID: 35294083
7
ACTR3B variants of uncertain significance detected in cemento-ossifying fibroma cases
PMID: 37995913
8
Novel genome-wide association identified between ACTR3B and pregnancy-related traits
PMID: 32403311
Disease Associationsⓘ20
eye diseaseOpen Targets
0.27Weak
response to stimulusOpen Targets
0.20Weak
alcohol drinkingOpen Targets
0.19Weak
amyotrophic lateral sclerosisOpen Targets
0.19Weak
bronchial diseaseOpen Targets
0.18Weak
ankylosing spondylitisOpen Targets
0.15Weak
corneal ulcerOpen Targets
0.13Weak
joint diseaseOpen Targets
0.13Weak
nutritional deficiency diseaseOpen Targets
0.13Weak
ProptosisOpen Targets
0.12Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.12Weak
phobic disorderOpen Targets
0.12Weak
behaviorOpen Targets
0.12Weak
lacrimal apparatus diseaseOpen Targets
0.11Weak
hemorrhageOpen Targets
0.11Weak
Breast hypertrophyOpen Targets
0.11Weak
gastric ulcerOpen Targets
0.11Weak
Autosomal dominant striatal neurodegenerationOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DCTN1Protein interaction100%DCTN5Protein interaction100%CAPZBProtein interaction98%ACTG1Protein interaction98%ACTBProtein interaction97%HCLS1Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Liver
54%
Ovary
38%
Heart
30%
Bone Marrow
27%
Lung
22%
Gene Interaction Network
Click a node to explore
ACTR3BDCTN1DCTN5CAPZBACTG1ACTBHCLS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59GD5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.33]
RankingsWhere ACTR3B stands among ~20K protein-coding genes
  • #10,429of 20,598
    Most Researched38
  • #1,364of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedACTR3B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma.
PMID: 37995913
Mod Pathol · 2024
1.00
2
Gene Expression Analysis Reveals Novel Gene Signatures Between Young and Old Adults in Human Prefrontal Cortex.
PMID: 30210331
Front Aging Neurosci · 2018
0.90
3
A Data-Driven Review of the Genetic Factors of Pregnancy Complications.
PMID: 32403311
Int J Mol Sci · 2020
0.80
4
Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.
PMID: 39336709
Genes (Basel) · 2024
0.70
5
Immune Characteristics of Chinese Diffuse Large B-Cell Lymphoma Patients: Implications for Cancer Immunotherapies.
PMID: 29936139
EBioMedicine · 2018
0.60