GSTM4: Glutathione S-Transferase Mu 4
A member of the mu class of glutathione S-transferases involved in detoxification and oxidative stress response.
Gene Information Card
| Symbol | GSTM4 |
|---|---|
| Full Name | Glutathione S-Transferase Mu 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 2948 ncbi.nlm.nih.gov/gene/2948 |
| Ensembl ID | ENSG00000134107 |
| UniProt ID | Q03013 |
| OMIM ID | 138380 |
| HGNC ID | 4634 |
| Aliases | GST4, GSTM4-4, GSTM4b |
Description
GSTM4 (Glutathione S-Transferase Mu 4) is a protein-coding gene that belongs to the mu class of glutathione S-transferases (GSTs). These enzymes catalyze the conjugation of reduced glutathione to a wide variety of electrophilic compounds, playing a key role in cellular detoxification, protection against oxidative stress, and metabolism of xenobiotics. GSTM4 is expressed in multiple tissues and is involved in the metabolism of drugs, carcinogens, and environmental toxins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GSTM4 expression may affect detoxification of carcinogens, influencing cancer risk and progression. | COSMIC; literature |
| Asthma | Polymorphisms in GSTM4 may modulate susceptibility to oxidative stress in airways. | ClinVar; literature |
| Drug-induced liver injury | Reduced GSTM4 activity may impair detoxification of hepatotoxic drugs. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.2 | Low |
| Brain | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| A549 | 7.5 | Lung adenocarcinoma cell line |
| HEK293 | 5.0 | Embryonic kidney cell line |
| MCF7 | 3.2 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.313A>G | Missense | 0.01% (gnomAD) | p.Thr105Ala; may alter enzyme activity |
| c.519C>T | Nonsense | <0.001% | p.Arg173*; predicted loss of function |
| c.1A>G | Start loss | <0.001% | p.Met1?; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants (e.g., c.519C>T, c.1A>G) are predicted to result in loss of enzyme function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GSTM4.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for GSTM4.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Glutathione metabolism (KEGG: hsa00480)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
Protein Summary
The GSTM4 protein (UniProt Q03013) is a 218-amino acid cytosolic enzyme belonging to the mu class of glutathione S-transferases. It forms homodimers and catalyzes the conjugation of glutathione to electrophilic substrates, facilitating detoxification. The protein is expressed in liver, kidney, lung, and other tissues, and its activity can be modulated by genetic variants. GSTM4 is involved in cellular defense against oxidative stress and metabolism of drugs and carcinogens.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSTM4 Knockout HEK293 Cell Line | EDJ-KQ4808 | Human | 2948 | Details Get a Quote |
| GSTM4 Knockout A-549 Cell Line | EDJ-KQ27574 | Human | 2948 | Details Get a Quote |
| GSTM4 Knockout HCT 116 Cell Line | EDJ-KQ27575 | Human | 2948 | Details Get a Quote |
| GSTM4 Knockout HeLa Cell Line | EDJ-KQ27576 | Human | 2948 | Details Get a Quote |