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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLS3
plastin 3
Chromosome X Β· Xq23
NCBI Gene: 5358Ensembl: ENSG00000102024.20HGNC: HGNC:9091UniProt: B4DPW9
205PubMed Papers
22Diseases
0Drugs
48Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolbone developmentactin filament network formationactin filament bundleX-linked osteoporosis with fracturescongenital diaphragmatic herniaosteoporosispostmenopausal osteoporosis
✦AI Summary

PLS3 (plastin 3) is an X-chrX actin-bundling protein that plays a critical role in bone homeostasis 1. The gene encodes T-plastin, which mediates actin filament formation and bundle assembly in multiple cell types 2. PLS3 functions in osteocytes, osteoblasts, and osteoclasts through regulation of mechanotransduction, calcium homeostasis, vesicle trafficking, and cell differentiation 3. Loss-of-function variants in PLS3 cause X-linked osteoporosis, an early-onset monogenic bone disease characterized by abnormal bone microarchitecture, reduced bone mineral density, and increased fracture risk 4. PLS3-defective individuals show markedly reduced trabecular and cortical bone density, decreased trabecular number, increased trabecular separation, and impaired bone strength 5. Males are predominantly affected, though severe phenotypes have been documented in heterozygous females 4. Biochemically, PLS3 mutation carriers display elevated serum dickkopf-1 (DKK1) concentrations, suggesting altered Wnt pathway regulation 6. Recent evidence indicates PLS3 pathology extends beyond simple actin-bundling deficiency, involving broader bone metabolic pathways including Wnt signaling 2. Clinical significance: PLS3 mutations account for approximately 2.9% of monogenic early-onset osteoporosis cases 4. Genetic testing is recommended for early-onset osteoporosis diagnosis, though treatment strategies remain under development 7.

Sources cited
1
PLS3 encodes actin-binding plastin-3 protein causing X-linked osteoporosis; identified as genetic contributor to early-onset osteoporosis
PMID: 37668887
2
PLS3 encodes T-plastin actin-bundling protein; loss-of-function causes X-linked osteoporosis; mechanism involves Wnt pathway and bone metabolism beyond actin-bundling
PMID: 39273077
3
PLS3 variants cause syndromic and nonsyndromic osteoporosis; functions in osteocytes, osteoblasts, osteoclasts through mechanotransduction, calcium regulation, vesicle trafficking, and mineralization
PMID: 37484945
4
PLS3 variants found in 2.9% of early-onset osteoporosis cases; more common in males; severe females may have digenic inheritance
PMID: 39316135
5
PLS3 variants cause reduced trabecular/cortical bone density, decreased trabecular number, increased trabecular separation, impaired bone strength; frameshift/nonsense variants more severe than missense
PMID: 39658012
6
PLS3 mutation carriers show significantly elevated DKK1 concentrations, linking PLS3 to Wnt pathway dysfunction in bone metabolism
PMID: 31968132
7
X-chromosomal osteoporosis caused by PLS3 mutations affects especially males; part of monogenic early-onset osteoporosis spectrum
PMID: 34236445
Disease Associationsβ“˜22
X-linked osteoporosis with fracturesOpen Targets
0.72Strong
congenital diaphragmatic herniaOpen Targets
0.62Moderate
osteoporosisOpen Targets
0.47Moderate
postmenopausal osteoporosisOpen Targets
0.36Weak
genetic disorderOpen Targets
0.19Weak
osteogenesis imperfectaOpen Targets
0.18Weak
gastric cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Kallmann syndromeOpen Targets
0.07Suggestive
familial avascular necrosis of femoral headOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
hypogonadotropic hypogonadismOpen Targets
0.07Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.07Suggestive
Hypocalcemic vitamin D-resistant ricketsOpen Targets
0.07Suggestive
melorheostosisOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Patent ductus arteriosusOpen Targets
0.06Suggestive
acroosteolysisOpen Targets
0.06Suggestive
12q14 microdeletion syndromeOpen Targets
0.06Suggestive
Diaphragmatic hernia 5, X-linkedUniProt
OsteoporosisUniProt
Pathogenic Variants48
NM_005032.7(PLS3):c.766C>T (p.Arg256Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 256
NM_005032.7(PLS3):c.501-1G>APathogenic
Bone mineral density quantitative trait locus 18|not provided
β˜…β˜…β˜†β˜†2024
NM_005032.7(PLS3):c.234_237+10delLikely pathogenic
not provided|Bone mineral density quantitative trait locus 18
β˜…β˜…β˜†β˜†2023
NM_005032.7(PLS3):c.1290dup (p.Gln431fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 431
NM_005032.7(PLS3):c.1635+2T>CPathogenic
Bone mineral density quantitative trait locus 18
β˜…β˜†β˜†β˜†2026
NM_005032.7(PLS3):c.985_987+6delinsGPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_005032.7(PLS3):c.74-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_005032.7(PLS3):c.1627_1628del (p.Ser543fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 543
NM_005032.7(PLS3):c.1303C>T (p.Arg435Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 435
NM_005032.7(PLS3):c.1184-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_005032.7(PLS3):c.1050_1053del (p.Arg350fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 350
NM_005032.7(PLS3):c.1613C>A (p.Ser538Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 538
NM_005032.7(PLS3):c.1067del (p.Ala356fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 356
NM_005032.7(PLS3):c.367+1G>APathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2024
NM_005032.7(PLS3):c.1580G>A (p.Trp527Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 527
NM_005032.7(PLS3):c.500+1G>ALikely pathogenic
Thyroid cancer, nonmedullary, 1|Bone mineral density quantitative trait locus 18
β˜…β˜†β˜†β˜†2024
NM_005032.7(PLS3):c.1252del (p.His418fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 418
NM_005032.7(PLS3):c.1620del (p.Ile541fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 541
NM_005032.7(PLS3):c.994_995del (p.Thr331_Asp332insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 331
NM_005032.7(PLS3):c.352C>T (p.Gln118Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 118
View on ClinVar β†—
Related Genes
ACTA1Protein interaction94%SMN1Protein interaction86%SMN2Protein interaction83%CORO1CProtein interaction82%FSCN1Protein interaction78%LCP1Protein interaction57%
Tissue Expression6 tissues
Heart
100%
Liver
90%
Lung
61%
Ovary
45%
Brain
25%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
PLS3ACTA1SMN1SMN2CORO1CFSCN1LCP1
PROTEIN STRUCTURE
Preparing viewer…
PDB1AOA Β· 2.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.39Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.15–0.39]
RankingsWhere PLS3 stands among ~20K protein-coding genes
  • #2,047of 20,598
    Most Researched205 Β· top 10%
  • #1,367of 5,498
    Most Pathogenic Variants48 Β· top quartile
  • #1,921of 17,882
    Most Constrained (LOEUF)0.39 Β· top quartile
Genes detectedPLS3
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Early-Onset Osteoporosis.
PMID: 34236445
Calcif Tissue Int Β· 2022
1.00
2
Bone fragility and osteoporosis in children and young adults.
PMID: 37668887
J Endocrinol Invest Β· 2024
0.90
3
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
PMID: 39316135
Calcif Tissue Int Β· 2024
0.80
4
Tumor heterogeneity and immune-evasive T follicular cell lymphoma phenotypes at single-cell resolution.
PMID: 38012392
Leukemia Β· 2024
0.76
5
The intricate mechanism of PLS3 in bone homeostasis and disease.
PMID: 37484945
Front Endocrinol (Lausanne) Β· 2023
0.70