DNAJC16 Gene - DnaJ Heat Shock Protein Family (Hsp40) Member C16
Comprehensive genomic and proteomic analysis of DNAJC16, a co-chaperone involved in protein folding and cellular stress response.
Gene Information Card
| Symbol | DNAJC16 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member C16 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 23341 ncbi.nlm.nih.gov/gene/23341 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9Y2X0 |
| OMIM ID | 618641 |
| HGNC ID | 20387 |
| Aliases | FLJ10769, MGC131851, DnaJ (Hsp40) homolog, subfamily C, member 16 |
Description
DNAJC16 encodes a member of the DnaJ/Hsp40 family of co-chaperones, which stimulate the ATPase activity of Hsp70 chaperones to facilitate protein folding, assembly, and degradation. The protein contains a conserved J-domain and is implicated in cellular stress responses and protein homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect protein folding and stress response pathways; mutations observed in tumor samples. | COSMIC; ClinVar |
| Neurodegenerative disorders (potential) | Dysregulation of Hsp40 co-chaperones linked to protein aggregation; direct evidence limited. | UniProt; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.4 | Low expression |
| A549 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.452A>G (p.Asn151Ser) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.784G>A (p.Gly262Arg) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • Hsp70 protein binding (GO:0030544) |
| • ATP binding (GO:0005524) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Chaperone-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
DNAJC16 is a 553-amino acid protein with a conserved J-domain at the N-terminus, enabling interaction with Hsp70 chaperones. It is localized in the cytoplasm and cytosol, where it participates in protein folding and stress responses. The protein is expressed at moderate levels in testis and at lower levels in other tissues. Mutations are rare and of unknown clinical significance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC16 Knockout HEK293 Cell Line | EDJ-KQ7977 | Human | 23341 | Details Get a Quote |
| DNAJC16 Knockout A-549 Cell Line | EDJ-KQ33685 | Human | 23341 | Details Get a Quote |
| DNAJC16 Knockout HCT 116 Cell Line | EDJ-KQ33686 | Human | 23341 | Details Get a Quote |
| DNAJC16 Knockout HeLa Cell Line | EDJ-KQ33687 | Human | 23341 | Details Get a Quote |
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