DNAJC18: DnaJ Heat Shock Protein Family (Hsp40) Member C18
A co-chaperone gene with limited functional characterization, implicated in cellular stress responses and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | DNAJC18 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member C18 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 55792 ncbi.nlm.nih.gov/gene/55792 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q5T6V5 |
| OMIM ID | 615574 |
| HGNC ID | 24608 |
| Aliases | FLJ10706, MGC13170 |
Description
DNAJC18 encodes a member of the DnaJ/Hsp40 family of co-chaperones, which stimulate the ATPase activity of Hsp70 chaperones and assist in protein folding, trafficking, and degradation. The protein contains a conserved J-domain that mediates interaction with Hsp70. DNAJC18 is broadly expressed in human tissues, with highest levels in testis and brain. Its precise cellular functions remain under investigation, but it is thought to participate in stress responses and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression may disrupt chaperone-mediated protein homeostasis, contributing to tumorigenesis. | COSMIC; TCGA data show somatic mutations and copy number alterations in various cancers. |
| Neurodevelopmental disorders | Potential role in neuronal protein folding; variants observed in patients with intellectual disability. | ClinVar; limited case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Brain (cortex) | 7.1 | Low |
| Heart | 5.3 | Low |
| Liver | 4.0 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Embryonic kidney cells; moderate expression |
| K562 | 4.2 | Leukemia cell line; low expression |
| HeLa | 3.9 | Cervical cancer cells; low expression |
| HepG2 | 3.5 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; rare population variant |
| c.112G>A (p.Gly38Ser) | Missense | <0.01% | Unknown; reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in curated databases.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • Hsp70 protein binding (GO:0030544) |
| • ATPase activator activity (GO:0001671) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Chaperone-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
DNAJC18 is a 238-amino acid protein with a conserved J-domain at the N-terminus (residues 1-70) and a C-terminal region of unknown function. It belongs to the DnaJ/Hsp40 family and is predicted to act as a co-chaperone for Hsp70, stimulating ATP hydrolysis to facilitate substrate folding. The protein is localized in the cytoplasm and cytosol. Structural studies are limited; no 3D structure has been solved experimentally.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC18 Knockout HEK293 Cell Line | EDJ-KQ5069 | Human | 202052 | Details Get a Quote |
| DNAJC18 Knockout HCT 116 Cell Line | EDJ-KQ27993 | Human | 202052 | Details Get a Quote |
| DNAJC18 Knockout HeLa Cell Line | EDJ-KQ27994 | Human | 202052 | Details Get a Quote |
| DNAJC18 Knockout A-549 Cell Line | EDJ-KQ26768 | Human | 202052 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
