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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSPB3
heat shock protein family B (small) member 3
Chromosome 5 · 5q11.2
NCBI Gene: 8988Ensembl: ENSG00000169271.3HGNC: HGNC:5248UniProt: Q12988
20PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmnuclear specknucleusresponse to unfolded proteindistal hereditary motor neuropathy type 2DNA methylationCharcot-Marie-Tooth disease type 2kidney disease
✦AI Summary

HSPB3 is a small heat shock protein functioning as an ATP-independent molecular chaperone with multiple roles in cellular homeostasis and muscle biology. Structurally, HSPB3 forms polydisperse oligomeric assemblies, predominantly trimeric species, with a characteristic short C-terminal extension that influences its quaternary structure 1. The protein exhibits target protein-dependent chaperone activity, preventing heat-induced aggregation of various substrates 1. Beyond general proteostasis, HSPB3 plays a specialized role in myogenesis by binding to the lamin B receptor (LBR) in the nucleoplasm, maintaining its dynamic state and promoting transcription of myogenic genes 2. HSPB3 is also implicated in actin polymerization inhibition, and mutations in its α-crystallin domain correlate with neuromuscular disease. Pathogenic HSPB3 mutations are associated with distal hereditary motor neuropathy and Charcot-Marie-Tooth disease type 2 (CMT2), with disease mechanisms involving impaired mitochondrial quality control and mitophagy dysfunction 3. Patient-derived HSPB3 mutations induce motor defects and reduced mitochondrial membrane potential, which can be rescued by PINK1 and Parkin activation 3. Clinically, HSPB3 variants represent important diagnostic candidates in exome sequencing studies of rare neurological disorders 4. The evolutionary conservation of HSPB3's α-crystallin domain reflects its functional importance, though it shows lower purifying selection than other disease-associated sHSPs, explaining its lower mutation incidence in inherited neuropathies 5.

Sources cited
1
HSPB3 forms trimeric oligomers with β-sheet structure and exhibits target protein-dependent chaperone activity in preventing heat-induced aggregation
PMID: 22610661
2
HSPB3 promotes myogenesis by binding to lamin B receptor and regulating muscle cell differentiation; patient mutations cause aggregation and disease
PMID: 33958580
3
HSPB3 mutations induce motor defects through mitochondrial dysfunction and impaired mitophagy, rescuable by PINK1/Parkin
PMID: 37804589
4
HSPB3 identified as candidate gene in clinical exome sequencing for rare genetic neurological disorders
PMID: 36964972
5
HSPB3 mutations are associated with neuromuscular disorders; shows lower purifying selection than other disease-associated sHSPs
PMID: 35678958
Disease Associationsⓘ21
distal hereditary motor neuropathy type 2Open Targets
0.42Moderate
DNA methylationOpen Targets
0.33Weak
Charcot-Marie-Tooth disease type 2Open Targets
0.27Weak
kidney diseaseOpen Targets
0.16Weak
distal hereditary motor neuropathyOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.10Weak
ovarian cancerOpen Targets
0.10Weak
prostate cancerOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
oral squamous cell carcinomaOpen Targets
0.10Suggestive
gliomaOpen Targets
0.10Suggestive
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
bladder transitional cell carcinomaOpen Targets
0.09Suggestive
squamous cell carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
Neuronopathy, distal hereditary motor, autosomal dominant 4UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CREBRFShared pathway100%HSPA8Protein interaction100%HSP90AA1Protein interaction100%HSP90AB1Protein interaction100%BAG3Protein interaction100%HSPB8Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Brain
1%
Lung
1%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HSPB3CREBRFHSPA8HSP90AA1HSP90AB1BAG3HSPB8
PROTEIN STRUCTURE
Preparing viewer…
PDB6F2R · 3.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.52–1.43]
RankingsWhere HSPB3 stands among ~20K protein-coding genes
  • #14,168of 20,598
    Most Researched20
  • #14,743of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedHSPB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical exome sequencing findings in 1589 patients.
PMID: 36964972
Am J Med Genet A · 2023
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.90
3
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
PMID: 35678958
Cell Stress Chaperones · 2022
0.80
4
Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension".
PMID: 22610661
Cell Biochem Biophys · 2012
0.70
5
PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models.
PMID: 37804589
Biochem Biophys Res Commun · 2023
0.60