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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DNAJC3
DnaJ heat shock protein family (Hsp40) member C3
Chromosome 13 Β· 13q32.1
NCBI Gene: 5611Ensembl: ENSG00000102580.16HGNC: HGNC:9439UniProt: A8KA82
93PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomenegative regulation of translation in response to endoplasmic reticulum stressextracellular vesiclenegative regulation of apoptotic processjuvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeinfluenzadengue diseasegenetic disorder
✦AI Summary

DNAJC3 encodes a heat shock protein 40 (Hsp40) family co-chaperone that functions as a critical regulator of endoplasmic reticulum (ER) stress responses. As a co-chaperone of BiP/HSPA5, DNAJC3 stimulates BiP's ATPase activity to facilitate proper protein folding in the ER 1. During ER stress, DNAJC3 acts as a negative regulator of eIF2-alpha kinases (GCN2, PKR, and PERK), preventing excessive phosphorylation of eIF2-alpha and attenuating translation shutdown 2. DNAJC3 also helps maintain functional phase states of nucleolar prion-like proteins through buffering mechanisms 3. Loss-of-function DNAJC3 mutations cause a monogenic recessive syndrome combining early-onset diabetes mellitus with multisystemic neurodegeneration 1. Affected individuals present with juvenile-onset diabetes, ataxia, peripheral neuropathy, sensorineural hearing loss, and cerebral atrophy 12. Mechanistically, DNAJC3 deficiency impairs ER calcium homeostasis via disrupted Sec61 channel gating, triggering beta-cell dysfunction and hyperinsulinemic hypoglycemia in infants that may progress to hyperglycemia 4. Conversely, the antisense lncRNA DNAJC3-AS1 is upregulated in multiple cancers (osteosarcoma, renal cell carcinoma, thyroid carcinoma, colon cancer), promoting tumor progression through microRNA sponging mechanisms 5678. Clinically, DNAJC3 genetic testing is warranted in syndromic diabetes with neurodegeneration or congenital hyperinsulinism.

Sources cited
1
As a co-chaperone of BiP/HSPA5, DNAJC3 stimulates BiP's ATPase activity to facilitate proper protein folding in the ER .
PMID: 25466870
2
During ER stress, DNAJC3 acts as a negative regulator of eIF2-alpha kinases (GCN2, PKR, and PERK), preventing excessive phosphorylation of eIF2-alpha and attenuating translation shutdown .
PMID: 40534546
3
DNAJC3 also helps maintain functional phase states of nucleolar prion-like proteins through buffering mechanisms .
PMID: 39579766
4
Mechanistically, DNAJC3 deficiency impairs ER calcium homeostasis via disrupted Sec61 channel gating, triggering beta-cell dysfunction and hyperinsulinemic hypoglycemia in infants that may progress to hyperglycemia .
PMID: 38279270
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeOpen Targets
0.74Strong
influenzaOpen Targets
0.38Weak
dengue diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
goutOpen Targets
0.31Weak
sialolithiasisOpen Targets
0.12Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
male infertilityOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
Abnormality of the integumentOpen Targets
0.06Suggestive
intestinal diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
vascular diseaseOpen Targets
0.05Suggestive
temporomandibular joint disorderOpen Targets
0.05Suggestive
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusUniProt
Pathogenic Variants10
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter)Pathogenic
not provided|Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 393
NM_006260.5(DNAJC3):c.435dup (p.Ser146fs)Pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 146
NM_006260.5(DNAJC3):c.558G>A (p.Trp186Ter)Likely pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 186
NM_006260.5(DNAJC3):c.1367_1370del (p.Lys456fs)Likely pathogenic
not provided|Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 456
NM_006260.5(DNAJC3):c.1305del (p.Glu436fs)Likely pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 436
NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2018β†’ Residue 433
NM_006260.5(DNAJC3):c.393+2T>CPathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜†β˜†β˜†β˜†2022
NM_006260.5(DNAJC3):c.1A>G (p.Met1Val)Pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 1
NM_006260.5(DNAJC3):c.1036C>T (p.Arg346Ter)Pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 346
NM_006260.5(DNAJC3):c.393+2T>GPathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
β˜†β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
SEC63Protein interaction100%HSPA8Protein interaction100%HSPA4Protein interaction100%ATF6Protein interaction100%EIF2AK2Protein interaction100%HSPH1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
88%
Heart
52%
Lung
51%
Brain
33%
Ovary
30%
Gene Interaction Network
Click a node to explore
DNAJC3SEC63HSPA8HSPA4ATF6EIF2AK2HSPH1
PROTEIN STRUCTURE
Preparing viewer…
PDB2Y4T Β· 3.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.42–0.74]
RankingsWhere DNAJC3 stands among ~20K protein-coding genes
  • #5,134of 20,598
    Most Researched93 Β· top quartile
  • #2,847of 5,498
    Most Pathogenic Variants10
  • #5,782of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedDNAJC3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
lncRNAs maintain the functional phase state of nucleolar prion-like protein to facilitate rRNA processing.
PMID: 39579766
Mol Cell Β· 2024
1.00
2
Long noncoding RNA DNAJC3-AS1 promotes osteosarcoma progression via its sense-cognate gene DNAJC3.
PMID: 30652414
Cancer Med Β· 2019
0.90
3
A novel homozygous missense
PMID: 40534546
J Pediatr Endocrinol Metab Β· 2025
0.80
4
LncRNA DNAJC3-AS1 functions as oncogene in renal cell carcinoma via regulation of the miR-27a-3p/PRDM14 axis.
PMID: 33629299
Eur Rev Med Pharmacol Sci Β· 2021
0.70
5
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
PMID: 25466870
Am J Hum Genet Β· 2014
0.60