GSTCD: Glutathione S-Transferase C-Terminal Domain Containing
A gene encoding a glutathione S-transferase domain-containing protein with potential roles in cellular detoxification and lung function.
Gene Information Card
| Symbol | GSTCD |
|---|---|
| Full Name | Glutathione S-Transferase C-Terminal Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 79807 ncbi.nlm.nih.gov/gene/79807 |
| Ensembl ID | ENSG00000138685 |
| UniProt ID | Q8NEC5 |
| OMIM ID | 615912 |
| HGNC ID | 24806 |
| Aliases | FLJ13154, MGC138499, dJ1181N3.1 |
Description
GSTCD (Glutathione S-Transferase C-Terminal Domain Containing) is a protein-coding gene located on chromosome 4q24. The encoded protein contains a glutathione S-transferase (GST) C-terminal domain, suggesting a role in cellular detoxification and oxidative stress response. Genome-wide association studies have linked GSTCD variants to lung function and chronic obstructive pulmonary disease (COPD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Obstructive Pulmonary Disease (COPD) | Variants in GSTCD are associated with reduced lung function (FEV1/FVC ratio), potentially through altered detoxification of environmental toxins. | GWAS (PMID: 21946350, 20884851) |
| Lung Function Impairment | GSTCD polymorphisms correlate with forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC). | GWAS (PMID: 21946350) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 10.8 | Medium |
| Spleen | 8.2 | Low |
| Testis | 6.4 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | Highest expression in lung-derived cell line |
| HEK 293 (embryonic kidney) | 7.8 | Moderate expression |
| HeLa (cervical carcinoma) | 5.2 | Low expression |
| HepG2 (hepatocellular carcinoma) | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs10516526 | SNP | 0.25 (G allele) | Intronic variant associated with lung function decline |
| rs11172113 | SNP | 0.18 (C allele) | Associated with FEV1/FVC ratio in GWAS |
| rs7671167 | SNP | 0.30 (T allele) | Linked to COPD susceptibility |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for GSTCD.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glutathione transferase activity (GO:0004364) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • glutathione metabolic process (GO:0006749) |
| • identical protein binding (GO:0042802) |
Pathways
• Glutathione metabolism (Reactome: R-HSA-156590)
• Detoxification of Reactive Oxygen Species (Reactome: R-HSA-3299685)
Protein Summary
The GSTCD protein (UniProt Q8NEC5) is 419 amino acids long and contains a glutathione S-transferase C-terminal domain. It is predicted to localize to the cytoplasm and may participate in glutathione conjugation reactions, contributing to cellular defense against oxidative stress. Structural modeling suggests a typical GST fold with an N-terminal thioredoxin-like domain and a C-terminal alpha-helical domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSTCD Knockout HEK293 Cell Line | EDJ-KQ13694 | Human | 79807 | Details Get a Quote |
| GSTCD Knockout A-549 Cell Line | EDJ-KQ43399 | Human | 79807 | Details Get a Quote |
| GSTCD Knockout HCT 116 Cell Line | EDJ-KQ43400 | Human | 79807 | Details Get a Quote |
| GSTCD Knockout HeLa Cell Line | EDJ-KQ43401 | Human | 79807 | Details Get a Quote |
