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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ACTBL2
actin beta like 2
Chromosome 5 · 5q11.2
NCBI Gene: 345651Ensembl: ENSG00000169067.4HGNC: HGNC:17780UniProt: Q562R1
140PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeGO:0005615protein bindingaxonogenesishypertrophic cardiomyopathyalcohol drinkingconnective tissue diseaseintracerebral hemorrhage
✦AI Summary

ACTBL2 (actin beta-like 2) encodes the seventh actin isoform involved in cell motility and cytoskeletal organization 1. The protein forms complexes with gelsolin and can polymerize, sharing evolutionary origins with non-muscle actins but containing the largest number of non-conserved amino acid substitutions among all actins 1. ACTBL2 is essential for cell motility, influencing invasion, focal adhesion formation, actin polymerization, and lamellipodia/stress fiber formation in melanoma cells 1. The protein is expressed at low levels in most cells, but high expression in specific cell subsets affects cytoskeletal dynamics 1. Clinically, ACTBL2 shows significant disease relevance across multiple cancer types. It is upregulated in colorectal cancer and serves as a novel biomarker 2. In epithelial ovarian cancer, ACTBL2-positive tumor-infiltrating leukocytes, primarily CD8+ T-cells and CD68+ macrophages, are associated with improved overall survival and serve as an independent prognostic factor 3. ACTBL2 is also identified as a potential therapeutic target in thymoma 4 and is regulated by the oncogene CTCFL in ovarian cancer 5. Additionally, ACTBL2 shows promise as a biomarker for schizophrenia diagnosis in proteomic analyses 6.

Sources cited
1
ACTBL2 is the seventh actin isoform, forms complexes with gelsolin, and is essential for cell motility and cytoskeletal organization
PMID: 33558623
2
ACTBL2 is upregulated in colorectal cancer and represents a novel biomarker
PMID: 27989943
3
ACTBL2-positive tumor-infiltrating leukocytes are associated with improved survival in ovarian cancer
PMID: 38114558
4
ACTBL2 serves as a potential therapeutic target in thymoma
PMID: 33277874
5
ACTBL2 is regulated by CTCFL oncogene in ovarian cancer
PMID: 35132075
6
ACTBL2 shows potential as a biomarker for schizophrenia diagnosis
PMID: 38856018
Disease Associationsⓘ20
hypertrophic cardiomyopathyOpen Targets
0.43Moderate
alcohol drinkingOpen Targets
0.40Moderate
connective tissue diseaseOpen Targets
0.31Weak
intracerebral hemorrhageOpen Targets
0.30Weak
mathematical abilityOpen Targets
0.27Weak
schizophreniaOpen Targets
0.24Weak
idiopathic pulmonary fibrosisOpen Targets
0.23Weak
clavicle fractureOpen Targets
0.22Weak
shoulder fractureOpen Targets
0.22Weak
ovarian dysfunctionOpen Targets
0.20Weak
hypertensionOpen Targets
0.20Weak
androgenetic alopeciaOpen Targets
0.20Weak
gingivitisOpen Targets
0.19Weak
benign prostatic hyperplasiaOpen Targets
0.19Weak
essential hypertensionOpen Targets
0.19Weak
intelligenceOpen Targets
0.19Weak
ovarian neoplasmOpen Targets
0.19Weak
pituitary gland diseaseOpen Targets
0.18Weak
Abnormality of the integumentOpen Targets
0.18Weak
esophageal ulcerOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POTEFShared pathway100%POTEJShared pathway100%POTEIShared pathway100%ACTL6AProtein interaction100%DMAP1Protein interaction100%RUVBL2Protein interaction100%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Brain
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACTBL2POTEFPOTEJPOTEIACTL6ADMAP1RUVBL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q562R1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.62LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.90–1.62]
RankingsWhere ACTBL2 stands among ~20K protein-coding genes
  • #3,271of 20,598
    Most Researched140 · top quartile
  • #15,769of 17,882
    Most Constrained (LOEUF)1.62
Genes detectedACTBL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The origin of the expressed retrotransposed gene ACTBL2 and its influence on human melanoma cells' motility and focal adhesion formation.
PMID: 33558623
Sci Rep · 2021
1.00
2
Are non-muscle actin isoforms functionally equivalent?
PMID: 28439872
Histol Histopathol · 2017
0.90
3
Characterization and prognostic impact of ACTBL2-positive tumor-infiltrating leukocytes in epithelial ovarian cancer.
PMID: 38114558
Sci Rep · 2023
0.80
4
Protein Profiles and Novel Molecular Biomarkers of Schizophrenia Based on 4D-DIA Proteomics.
PMID: 38856018
J Proteome Res · 2024
0.70
5
Identification of actin beta-like 2 (ACTBL2) as novel, upregulated protein in colorectal cancer.
PMID: 27989943
J Proteomics · 2017
0.60