DNAJC7: A Co-chaperone Regulating Protein Homeostasis and Stress Response
Comprehensive genomic and functional analysis of DNAJC7, a DnaJ/Hsp40 family member implicated in cancer and neurodegeneration.
Gene Information Card
| Symbol | DNAJC7 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member C7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 7266 ncbi.nlm.nih.gov/gene/7266 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q99615 |
| OMIM ID | 607987 |
| HGNC ID | 14872 |
| Aliases | TTC2, HSP40 |
Description
DNAJC7 encodes a member of the DnaJ/Hsp40 family of co-chaperones. The protein contains a conserved J-domain that interacts with Hsp70 chaperones to regulate protein folding, assembly, and degradation. DNAJC7 is involved in cellular stress responses, protein homeostasis, and may play roles in cancer progression and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Mutations and altered expression may disrupt chaperone-mediated protein quality control, promoting tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Impaired co-chaperone function can lead to protein aggregation and cellular toxicity. | ClinVar lists variants associated with neurological phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 7.1 | Leukemia cells |
| A549 | 6.8 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% | Unknown functional impact |
| c.1420G>A (p.Glu474Lys) | Missense | 0.005% | May alter protein stability |
| c.1873_1874insA | Frameshift | 0.002% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of co-chaperone activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Missense mutations in the J-domain may interfere with Hsp70 binding, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • Hsp70 protein binding (GO:0030544) |
| • unfolded protein binding (GO:0051082) | • response to heat (GO:0009408) |
| • cytoplasm (GO:0005737) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Hsp70 chaperone cycle
Protein Summary
DNAJC7 is a 504-amino acid co-chaperone with an N-terminal J-domain that stimulates ATPase activity of Hsp70. It contains tetratricopeptide repeat (TPR) domains that mediate client protein interactions. The protein is ubiquitously expressed and localizes to the cytoplasm. It assists in protein folding, prevents aggregation, and targets misfolded proteins for degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC7 Knockout HEK293 Cell Line | EDJ-KQ5978 | Human | 7266 | Details Get a Quote |
| DNAJC7 Knockout A-549 Cell Line | EDJ-KQ28277 | Human | 7266 | Details Get a Quote |
| DNAJC7 Knockout HCT 116 Cell Line | EDJ-KQ29553 | Human | 7266 | Details Get a Quote |
| DNAJC7 Knockout HeLa Cell Line | EDJ-KQ29554 | Human | 7266 | Details Get a Quote |
