HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 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.
DNAJB2
DnaJ heat shock protein family (Hsp40) member B2
Chromosome 2 Β· 2q35
NCBI Gene: 3300Ensembl: ENSG00000135924.18HGNC: HGNC:5228UniProt: P25686
83PubMed Papers
21Diseases
0Drugs
26Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATPase activator activityprotein bindingHsp70 protein bindingubiquitin bindingneuronopathy, distal hereditary motor, autosomal recessive 5Spinal muscular atrophy with respiratory distress type 1Charcot-Marie-Tooth disease axonal type 2Tgenetic disorder
✦AI Summary

DNAJB2 is a co-chaperone that regulates HSP70 family proteins, functioning in both protein folding and degradation pathways 1. As a member of the HSP40/DNAJ family, DNAJB2 activates HSP70 ATPase activity and facilitates substrate binding while simultaneously contributing to ubiquitin-dependent proteasomal degradation of misfolded proteins 1. The protein demonstrates dual localization, with cytoplasmic forms involved in general protein quality control and endoplasmic reticulum-localized isoforms specifically participating in ER-associated degradation 2. DNAJB2 expression occurs at neuromuscular junctions in normal skeletal muscle and increases during muscle regeneration and in protein aggregate myopathies 2. Mutations in DNAJB2 cause autosomal recessive distal hereditary motor neuropathy type 5, characterized by progressive distal motor weakness, often with hearing loss and sometimes parkinsonism 34. The disease mechanism involves loss of DNAJB2 function, leading to toxic protein accumulation including TDP-43 and phospho-alpha-synuclein deposits 3. DNAJB2 deficiency represents a chaperonopathy where impaired protein quality control specifically affects motor neurons, making it one of several chaperone genes associated with hereditary motor neuropathies 45.

Sources cited
1
DNAJB2 functions as HSP70 co-chaperone and can inhibit huntington aggregates formation
PMID: 36581576
2
DNAJB2 expression in skeletal muscle at neuromuscular junctions and in regenerating fibers
PMID: 20395441
3
DNAJB2 mutations cause CMT2 with hearing loss and parkinsonism, leading to TDP-43 and phospho-alpha-synuclein accumulation
PMID: 35286755
4
DNAJB2 is one of four chaperone genes causing distal hereditary motor neuropathies
PMID: 28018906
5
DNAJB2 is among the most frequent dHMN genes and causes autosomal recessive distal hereditary motor neuropathy
PMID: 38702287
Disease Associationsβ“˜21
neuronopathy, distal hereditary motor, autosomal recessive 5Open Targets
0.76Strong
Spinal muscular atrophy with respiratory distress type 1Open Targets
0.65Moderate
Charcot-Marie-Tooth disease axonal type 2TOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.47Moderate
charcot-marie-tooth disease, axonal, type 2tOpen Targets
0.46Moderate
Charcot-Marie-Tooth disease X-linked dominant 1Open Targets
0.34Weak
X-linked Charcot-Marie-Tooth disease type 1Open Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.33Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.18Weak
autosomal recessive distal spinal muscular atrophy 2Open Targets
0.15Weak
Griscelli diseaseOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
rosaceaOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
obsessive-compulsive disorderOpen Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
oculocutaneous albinism type 3Open Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Neuronopathy, distal hereditary motor, autosomal recessive 5UniProt
Pathogenic Variants26
NM_006736.6(DNAJB2):c.352+1G>APathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease X-linked dominant 1|not provided|Inborn genetic diseases|DNAJB2-related disorder|Autosomal recessive distal spinal muscular atrophy 2
β˜…β˜…β˜†β˜†2025
NM_006736.6(DNAJB2):c.175+2T>APathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|not provided
β˜…β˜…β˜†β˜†2024
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜…β˜†β˜†2024β†’ Residue 40
NM_006736.6(DNAJB2):c.176-2A>GLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2026
NM_006736.6(DNAJB2):c.65+1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2024
NM_006736.6(DNAJB2):c.446-1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2024
NM_006736.6(DNAJB2):c.352+1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2024
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2024β†’ Residue 132
NM_006736.6(DNAJB2):c.353-1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2024
NM_006736.6(DNAJB2):c.445+1G>ALikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2023
NM_006736.6(DNAJB2):c.175+1G>CLikely pathogenic
DNAJB2-related disorder
β˜…β˜†β˜†β˜†2023
NM_006736.6(DNAJB2):c.229+1G>APathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|Charcot-Marie-Tooth disease|Autosomal recessive distal spinal muscular atrophy 2
β˜…β˜†β˜†β˜†2022
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2022β†’ Residue 40
NM_006736.6(DNAJB2):c.65+1G>ALikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2021
NM_006736.6(DNAJB2):c.446-1G>ALikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2021
NM_006736.6(DNAJB2):c.175+3A>TLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2021
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2020β†’ Residue 68
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|Charcot-Marie-Tooth disease|Autosomal recessive distal spinal muscular atrophy 2
β˜…β˜†β˜†β˜†2020β†’ Residue 5
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β˜…β˜†β˜†β˜†2020β†’ Residue 253
NM_006736.6(DNAJB2):c.229+2T>APathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
HSPA9Protein interaction100%HSPA4Protein interaction98%GRPEL1Protein interaction85%HSPH1Protein interaction83%HSPA5Protein interaction80%UBQLN1Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Liver
75%
Ovary
68%
Heart
66%
Bone Marrow
51%
Lung
50%
Gene Interaction Network
Click a node to explore
DNAJB2HSPA9HSPA4GRPEL1HSPH1HSPA5UBQLN1
PROTEIN STRUCTURE
Preparing viewer…
PDB2LGW Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.41–0.84]
RankingsWhere DNAJB2 stands among ~20K protein-coding genes
  • #5,727of 20,598
    Most Researched83
  • #1,944of 5,498
    Most Pathogenic Variants26
  • #7,169of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedDNAJB2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Distal hereditary motor neuropathies.
PMID: 38702287
Rev Neurol (Paris) Β· 2024
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
PMID: 36581576
Zhejiang Da Xue Xue Bao Yi Xue Ban Β· 2022
0.80
4
DNAJB2 expression in normal and diseased human and mouse skeletal muscle.
PMID: 20395441
Am J Pathol Β· 2010
0.70
5
Current advance on distal myopathy genetics.
PMID: 39017652
Curr Opin Neurol Β· 2024
0.60