DNAJC5G
DnaJ Heat Shock Protein Family (Hsp40) Member C5 Gamma
Gene Information Card
| Symbol | DNAJC5G |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C5 Gamma |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 285266 ncbi.nlm.nih.gov/gene/285266 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q8N5D9 |
| OMIM ID | 615247 |
| HGNC ID | 28235 |
| Aliases | CSP-gamma, DNAJC5B, FLJ32743 |
Description
DNAJC5G encodes a member of the DnaJ/Hsp40 family of co-chaperones, specifically the cysteine string protein gamma (CSP-gamma). This protein is involved in regulating chaperone activity, synaptic vesicle exocytosis, and protein folding. It is predominantly expressed in the brain and testis, and mutations have been linked to neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal Ceroid Lipofuscinosis (CLN4) | Missense mutations in DNAJC5G impair chaperone function, leading to lysosomal storage and neurodegeneration. | ClinVar, OMIM |
| Parkinson Disease | Altered CSP-gamma activity may contribute to alpha-synuclein aggregation and dopaminergic neuron loss. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Heart | 2.1 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line, high expression |
| HEK293 | 3.4 | Moderate expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Cys) | Missense | Rare | Loss of chaperone function, associated with CLN4 |
| c.424G>A (p.Glu142Lys) | Missense | Rare | Impaired synaptic vesicle recycling, linked to Parkinson disease |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce co-chaperone activity and protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some mutations may interfere with wild-type CSP-gamma function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • chaperone binding | • protein folding |
| • synaptic vesicle exocytosis | • ATPase activator activity |
| • response to heat |
Pathways
• Protein processing in endoplasmic reticulum
• Synaptic vesicle cycle
• Hsp40 chaperone network
Protein Summary
DNAJC5G encodes CSP-gamma, a 198-amino acid protein with a J-domain and a cysteine string region. It functions as a co-chaperone for Hsp70, facilitating protein folding and synaptic vesicle trafficking. The protein is highly expressed in neuronal tissues and is critical for maintaining proteostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC5G Knockout HEK293 Cell Line | EDJ-KQ13187 | Human | 285126 | Details Get a Quote |
| DNAJC5G Knockout HCT 116 Cell Line | EDJ-KQ42550 | Human | 285126 | Details Get a Quote |
| DNAJC5G Knockout HeLa Cell Line | EDJ-KQ59500 | Human | 285126 | Details Get a Quote |
| DNAJC5G Knockout A-549 Cell Line | EDJ-KQ67967 | Human | 285126 | Details Get a Quote |
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