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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
Chromosome 3 · 3q22.1
NCBI Gene: 23317Ensembl: ENSG00000138246.17HGNC: HGNC:30343UniProt: B3KN02
116PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
WASH complexprotein bindingosteoblast differentiationregulation of endocytic recyclingHereditary late-onset Parkinson diseaseParkinson diseasesleep apneagout
✦AI Summary

DNAJC13 (DnaJ heat shock protein family member C13) is an endosome-associated protein that functions as a co-chaperone of HSP70, playing critical roles in intracellular membrane trafficking and protein homeostasis 1. The protein regulates endosomal membrane dynamics, facilitating cargo transport from early endosomes to both recycling and late endosomes, and coordinates with the WASH complex and retromer machinery to control SNX1 dynamics on endosomal membranes 2. DNAJC13 positively modulates macroautophagy, a lysosomal degradative pathway essential for cellular quality control 2. Disease-associated mutations, particularly the N855S variant, have been identified in Parkinson's disease and essential tremor 34. The PD-linked N855S mutant exhibits reduced protein stability and loss-of-function deficits, impairing autophagic activity and causing abnormal α-synuclein accumulation in endosomal compartments, ultimately promoting dopaminergic neurodegeneration 25. These findings suggest DNAJC13 mutations contribute to PD pathogenesis through disrupted endosomal trafficking and autophagy, highlighting the critical role of endosomal pathway impairment in neurodegeneration.

Sources cited
1
DNAJC13 is an HSP40/DNAJ family protein with J-domain that acts as HSP70 co-chaperone; mutations in DNAJC13 prevent endosome protein trafficking and are associated with essential tremor and neurodegenerative diseases
PMID: 36581576
2
DNAJC13 is an endosome-associated protein and positive modulator of autophagy; the N855S PD variant is less stable than wild-type, has functional deficits in autophagy, and shows dominant negative effects on endosomal trafficking
PMID: 40717240
3
PD-linked N855S-mutant DNAJC13 causes α-synuclein accumulation in endosomal compartments due to defective cargo trafficking, inducing neurodegeneration in transgenic models
PMID: 29309590
4
DNAJC13 c.2564A>G (p.N855S) is a disease-causing variant identified in both Parkinson's disease and essential tremor patients
PMID: 25118025
5
DNAJC13 is among 26 candidate genes identified for late-onset Parkinson's disease through family-based whole exome analysis with significant excess of deleterious variants in PD cases
PMID: 34148545
Disease Associationsⓘ21
Hereditary late-onset Parkinson diseaseOpen Targets
0.47Moderate
Parkinson diseaseOpen Targets
0.45Moderate
sleep apneaOpen Targets
0.43Moderate
goutOpen Targets
0.43Moderate
essential tremorOpen Targets
0.38Weak
late-onset Parkinson diseaseOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
frozen shoulderOpen Targets
0.30Weak
Abnormality of refractionOpen Targets
0.27Weak
melanomaOpen Targets
0.20Weak
coronary artery diseaseOpen Targets
0.14Weak
vascular dementiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.06Suggestive
Rh deficiency syndromeOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.05Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.05Suggestive
Parkinson diseaseUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNX1Protein interaction94%VPS35Protein interaction94%HSPA8Protein interaction84%SYNJ1Protein interaction74%ATP13A2Protein interaction73%TMEM230Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
99%
Lung
72%
Ovary
65%
Liver
36%
Brain
34%
Gene Interaction Network
Click a node to explore
DNAJC13SNX1VPS35HSPA8SYNJ1ATP13A2TMEM230
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75165
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.27Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.17–0.27]
RankingsWhere DNAJC13 stands among ~20K protein-coding genes
  • #4,079of 20,598
    Most Researched116 · top quartile
  • #890of 17,882
    Most Constrained (LOEUF)0.27 · top 5%
Genes detectedDNAJC13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
PMID: 36581576
Zhejiang Da Xue Xue Bao Yi Xue Ban · 2022
1.00
2
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID: 34148545
Mol Neurodegener · 2021
0.90
3
The Parkinson Disease-Associated Mutant DNAJC13(N855S) Leads to Its Accelerated Degradation and Negatively Affects Macroautophagy and Retromer Complex-Mediated Dynamics.
PMID: 40717240
J Cell Physiol · 2025
0.80
4
DNAJC proteins and pathways to parkinsonism.
PMID: 31120186
FEBS J · 2019
0.70
5
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
PMID: 39051491
Mov Disord · 2024
0.60