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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DNAJC2
DnaJ heat shock protein family (Hsp40) member C2
Chromosome 7 · 7q22.1
NCBI Gene: 27000Ensembl: ENSG00000105821.16HGNC: HGNC:13192UniProt: Q99543
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionRNA bindingnucleusprotein bindingneurodegenerative diseaselysosomal storage diseaseresponse to xenobiotic stimuluspoisoning
✦AI Summary

DNAJC2 is a bifunctional DnaJ/Hsp40 chaperone protein with distinct cytosolic and nuclear roles 1. In the cytoplasm, DNAJC2 functions as a component of the ribosome-associated complex (RAC), stimulating ATPase activity of Hsp70 chaperones to facilitate cotranslational protein folding of nascent polypeptides 1. Nuclearly, DNAJC2 acts as a chr7 regulator that binds histone H2A ubiquitinated at lysine 119 and promotes displacement of polycomb repressive complex 1 (PRC1), thereby activating previously silenced genes 2. DNAJC2 demonstrates complex disease associations. In colorectal cancer, DNAJC2 is upregulated and promotes cell proliferation through AKT/P21 signaling, with expression correlating to tumor size 3. However, mutations in DNAJC2 are negatively associated with overall survival in lung adenocarcinoma patients 4. DNAJC2 expression increases in PD-1+ colon cancer cells treated with anti-PD-1 immunotherapy, potentially protecting tumors from chemotherapy 5. Additionally, DNAJC2 alterations show associations with Parkinson's disease 6 and appear in Alzheimer's disease plasma proteomes 7. The protein also contributes to developmental canalization, a buffering mechanism against environmental and genetic perturbations 8. These findings suggest DNAJC2 has pleiotropic functions in protein quality control and gene regulation with significant implications for cancer biology and neurodegeneration.

Sources cited
1
DNAJC2 is a DnaJ/Hsp40 family member that stimulates Hsp70 ATPase activity and is involved in protein folding, translation, and other cellular processes
PMID: 16952052
2
DNAJC2 is upregulated in colorectal cancer tissues, promotes cell proliferation, associates with tumor size, and is regulated by miR-627-3p through AKT/P21 signaling
PMID: 34165158
3
DNAJC2 mutations are significantly negatively associated with overall survival and disease-free survival in lung adenocarcinoma patients
PMID: 30419062
4
DNAJC2 is upregulated in PD-1+ human colon cancer cells treated with nivolumab anti-PD-1 therapy, contributing to tumor survival and protection from chemotherapy
PMID: 35246475
5
DNAJC2 (dnj-11) is involved in developmental canalization and buffering against environmental and genetic perturbations, with expression upregulated by heat stress
PMID: 30653842
6
DNAJC2 shows suggestive association with sporadic late-onset Parkinson's disease through rare variants
PMID: 35715682
7
DNAJC2 peptides show increased observation frequency in Alzheimer's disease plasma compared to controls
PMID: 34182925
8
DNAJC2 alternative splicing events are regulated by RNA binding proteins and associated with histone deacetylase inhibitor sensitivity in cutaneous T-cell lymphomas
PMID: 36147491
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
femur fractureOpen Targets
0.28Weak
poisoningOpen Targets
0.28Weak
response to xenobiotic stimulusOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
neuroblastomaOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
Nijmegen breakage syndromeOpen Targets
0.06Suggestive
22q11.2 deletion syndromeOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
diverticular diseaseOpen Targets
0.04Suggestive
intestinal hypomagnesemia 1Open Targets
0.04Suggestive
Primary hypomagnesemia with secondary hypocalcemiaOpen Targets
0.04Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSPA1BProtein interaction100%HSPA9Protein interaction95%HSPA5Protein interaction95%HSPA14Protein interaction88%EIF2S1Protein interaction87%ZC3H15Protein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
21%
Liver
18%
Heart
17%
Lung
16%
Brain
14%
Gene Interaction Network
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DNAJC2HSPA1BHSPA9HSPA5HSPA14EIF2S1ZC3H15
PROTEIN STRUCTURE
Preparing viewer…
PDB2M2E · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.24–0.47]
RankingsWhere DNAJC2 stands among ~20K protein-coding genes
  • #6,977of 20,598
    Most Researched67
  • #2,657of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedDNAJC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
In PD-1+ human colon cancer cells NIVOLUMAB promotes survival and could protect tumor cells from conventional therapies.
PMID: 35246475
J Immunother Cancer · 2022
1.00
2
The plasma peptides of Alzheimer's disease.
PMID: 34182925
Clin Proteomics · 2021
0.90
3
Association of specific gene mutations derived from machine learning with survival in lung adenocarcinoma.
PMID: 30419062
PLoS One · 2018
0.80
4
The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones.
PMID: 16952052
Cell Mol Life Sci · 2006
0.70
5
DnaJ chaperones contribute to canalization.
PMID: 30653842
J Exp Zool A Ecol Integr Physiol · 2019
0.60