CHAC2: ChaC Glutathione Specific Gamma-Glutamylcyclotransferase 2
A key enzyme in glutathione degradation and cellular redox homeostasis
Gene Information Card
| Symbol | CHAC2 |
|---|---|
| Full Name | ChaC Glutathione Specific Gamma-Glutamylcyclotransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 494143 ncbi.nlm.nih.gov/gene/494143 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8WUX2 |
| OMIM ID | 615696 |
| HGNC ID | 28480 |
| Aliases | FLJ20489, MGC13170, C2orf34 |
Description
CHAC2 encodes a member of the ChaC family of gamma-glutamylcyclotransferases that specifically catalyze the degradation of glutathione. The enzyme cleaves glutathione into 5-oxoproline and a cysteinyl-glycine dipeptide, playing a critical role in cellular redox balance and amino acid metabolism. CHAC2 is expressed in multiple tissues and is implicated in stress responses and disease processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of glutathione metabolism via CHAC2 may alter redox balance, promoting tumor growth or resistance to therapy. | COSMIC; literature |
| Neurodegenerative disorders | Impaired glutathione degradation by CHAC2 could contribute to oxidative stress and neuronal damage. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 4.1 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
| A549 | 4.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Potential loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the active site or protein stability are predicted to reduce glutathione degradation, leading to glutathione accumulation and altered redox status.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CHAC2.
Dominant Negative (DN)
No dominant-negative mutations have been described for CHAC2.
View complete mutation data：
Gene Ontology (GO)
| • gamma-glutamylcyclotransferase activity | • glutathione catabolic process |
| • cellular response to oxidative stress | • cytoplasm |
Pathways
• Glutathione metabolism (Reactome: R-HSA-174403)
• Cellular responses to stress
Protein Summary
CHAC2 is a 222-amino acid protein that functions as a homodimer in the cytoplasm. It specifically recognizes glutathione and catalyzes its conversion to 5-oxoproline and cysteinyl-glycine. The enzyme is essential for maintaining intracellular glutathione levels and protecting cells from oxidative damage. Its expression is regulated by stress signals and is altered in various pathological conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHAC2 Knockout HEK293 Cell Line | EDJ-KQ12903 | Human | 494143 | Details Get a Quote |
| CHAC2 Knockout A-549 Cell Line | EDJ-KQ42087 | Human | 494143 | Details Get a Quote |
| CHAC2 Knockout HeLa Cell Line | EDJ-KQ42089 | Human | 494143 | Details Get a Quote |
| CHAC2 Knockout HCT 116 Cell Line | EDJ-KQ40840 | Human | 494143 | Details Get a Quote |
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