HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DNAJB6
DnaJ heat shock protein family (Hsp40) member B6
Chromosome 7 · 7q36.3
NCBI Gene: 10049Ensembl: ENSG00000105993.15HGNC: HGNC:14888UniProt: A0A0J9YX62
226PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ATPase activator activitynucleusnucleoplasmcytosolautosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)Autosomal dominant limb-girdle muscular dystrophy type 1DAutosomal dominant limb-girdle muscular dystrophymuscular dystrophy, limb-girdle, autosomal dominant
✦AI Summary

DNAJB6 is a DnaJ/Hsp40 co-chaperone protein that functions primarily as a suppressor of protein aggregation, particularly huntingtin and α-synuclein 1. The protein operates through isoform-specific mechanisms, where isoform B (but not isoform A) inhibits huntingtin aggregation 1. DNAJB6 is widely expressed across tissues with highest levels in the brain, where it localizes to both neurons (68-80%) and oligodendrocytes (41-53%) 2. The protein functions in protein quality control, intermediate filament organization, and Z-disc maintenance 3. Clinically, DNAJB6 mutations cause limb-girdle muscular dystrophy type 1E (LGMD1E), an autosomal dominant myopathy characterized by progressive proximal muscle weakness 4. DNAJB6-associated LGMD shows increased prevalence in some populations and manifests as a distal myopathy form, contributing to myofibrillar myopathy pathology through disrupted protein aggregation pathways 56. Beyond muscle disease, altered DNAJB6 expression is implicated in neurodegenerative conditions including Parkinson's disease and Multiple System Atrophy, suggesting therapeutic potential as a drug development target 2. Recent evidence indicates circDNAJB6 derived from human milk exosomes can promote DNAJB6 transcription and ameliorate bronchopulmonary dysplasia in experimental models 7.

Sources cited
1
DNAJB6 is a DnaJ/Hsp40 co-chaperone; isoform B inhibits huntingtin aggregation; widely expressed with higher levels in brain
PMID: 27276715
2
DNAJB6 suppresses α-synuclein aggregation; expressed in 68-80% of neurons and 41-53% of oligodendrocytes; altered expression in Parkinson's Disease and Multiple System Atrophy
PMID: 39228066
3
DNAJB6-associated LGMD subtype 1E identified with increased prevalence; molecular diagnosis established in large US LGMD cohort
PMID: 30564623
4
DNAJB6 associated with autosomal dominant distal myopathy
PMID: 33458580
5
DNAJB6-proteinopathy (HSP40) identified in Indian myopathy cohort; pathogenic variants associated with inherited myopathies
PMID: 33250842
6
DNAJB6 is a causative gene for myofibrillar myopathy; encodes Z-line related protein involved in protein quality control
PMID: 24291893
7
circDNAJB6 promotes DNAJB6 gene transcription and ameliorates bronchopulmonary dysplasia in experimental models
PMID: 38244155
Disease Associationsⓘ21
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)Open Targets
0.78Strong
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.75Strong
Autosomal dominant limb-girdle muscular dystrophyOpen Targets
0.48Moderate
muscular dystrophy, limb-girdle, autosomal dominantOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
Abnormality of the musculatureOpen Targets
0.34Weak
gastric cancerOpen Targets
0.32Weak
Abnormality of the cardiovascular systemOpen Targets
0.31Weak
dementiaOpen Targets
0.29Weak
respiratory system diseaseOpen Targets
0.29Weak
Parkinson diseaseOpen Targets
0.27Weak
Hereditary late-onset Parkinson diseaseOpen Targets
0.26Weak
late-onset Parkinson diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
myofibrillar myopathy, dominantOpen Targets
0.19Weak
aortic diseaseOpen Targets
0.17Weak
Abruptio PlacentaeOpen Targets
0.17Weak
Muscle weaknessOpen Targets
0.15Weak
cardiomyopathyOpen Targets
0.15Weak
diabetes mellitusOpen Targets
0.14Weak
Muscular dystrophy, limb-girdle, autosomal dominant 1UniProt
Pathogenic Variants14
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)|not provided|Ehlers-Danlos syndrome, classic type, 2;Ehlers-Danlos syndrome, classic type, 1
★★☆☆2026→ Residue 89
NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)|not provided
★★☆☆2025→ Residue 96
NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)|not provided
★★☆☆2025→ Residue 93
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)|not provided
★★☆☆2025→ Residue 93
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)|not provided|Abnormality of the musculature
★★☆☆2024→ Residue 91
NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★★☆☆2024→ Residue 91
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)Pathogenic
not provided|Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★★☆☆2023→ Residue 91
NM_058246.4(DNAJB6):c.290ATG[1] (p.Asp98del)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★☆☆☆2025→ Residue 98
NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★☆☆☆2022→ Residue 96
NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp)Likely pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★☆☆☆2020→ Residue 79
NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★☆☆☆2019→ Residue 93
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
★☆☆☆2019→ Residue 91
NM_058246.4(DNAJB6):c.346+5G>APathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
☆☆☆☆2018
NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)Pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
☆☆☆☆2018→ Residue 100
View on ClinVar ↗
Related Genes
HSP90AA1Protein interaction100%HSP90AB1Protein interaction100%HSPH1Protein interaction99%GRPEL1Protein interaction96%HSPA4LProtein interaction95%HSPA5Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
96%
Bone Marrow
78%
Lung
55%
Ovary
53%
Liver
31%
Gene Interaction Network
Click a node to explore
DNAJB6HSP90AA1HSP90AB1HSPH1GRPEL1HSPA4LHSPA5
PROTEIN STRUCTURE
Preparing viewer…
PDB6U3R · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.41–0.92]
RankingsWhere DNAJB6 stands among ~20K protein-coding genes
  • #1,789of 20,598
    Most Researched226 · top 10%
  • #2,495of 5,498
    Most Pathogenic Variants14
  • #8,435of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedDNAJB6
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
PMID: 30564623
Ann Clin Transl Neurol · 2018
1.00
2
Panorama of the distal myopathies.
PMID: 33458580
Acta Myol · 2020
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.80
4
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
PMID: 33250842
Front Neurol · 2020
0.70
5
Multiplex neurodegeneration proteotoxicity platform reveals DNAJB6 promotes non-toxic FUS condensate gelation and inhibits neurotoxicity.
PMID: 41271702
Nat Commun · 2025
0.64