GSDMC Gene - Gasdermin C
Key regulator of pyroptosis and inflammatory signaling
Gene Information Card
| Symbol | GSDMC |
|---|---|
| Full Name | gasdermin C |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.21 |
| NCBI Gene ID | 56169 ncbi.nlm.nih.gov/gene/56169 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | Q9BYG3 |
| OMIM ID | 617725 |
| HGNC ID | 24948 |
| Aliases | GSDML, MLZE, PP3912 |
Description
GSDMC (gasdermin C) is a member of the gasdermin family, which plays a critical role in pyroptosis, a form of programmed cell death. The protein is cleaved by caspases (e.g., caspase-8) to release an N-terminal domain that forms pores in the plasma membrane, leading to cell lysis and release of pro-inflammatory cytokines. GSDMC is implicated in inflammatory diseases and cancer, with expression regulated by NF-κB and other transcription factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | Dysregulated pyroptosis via GSDMC activation contributes to intestinal inflammation | PMID: 32025029 |
| Colorectal cancer | Overexpression of GSDMC promotes tumor growth and metastasis through pyroptosis-related inflammation | PMID: 32025029 |
| Melanoma | GSDMC expression correlates with poor prognosis and immune evasion | PMID: 31570896 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Esophagus | 12.8 | Medium |
| Lung | 8.5 | Low |
| Colon | 6.3 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 18.5 | High expression |
| HeLa (cervical cancer) | 12.3 | Moderate expression |
| MCF7 (breast cancer) | 5.2 | Low expression |
| HCT116 (colorectal cancer) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | 0.01% | Loss of start codon, likely loss of function |
| c.487C>T (p.Arg163Trp) | missense | 0.02% | Alters protein stability, potential gain of function |
| c.1123G>A (p.Gly375Arg) | missense | 0.005% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the N-terminal pore-forming domain (e.g., frameshift or nonsense) reduce pyroptosis activity.
Gain of Function (GOF)
Missense mutations in the C-terminal autoinhibitory domain (e.g., p.Arg163Trp) may enhance pore formation and pyroptosis.
Dominant Negative (DN)
Not well characterized; some mutations may interfere with wild-type GSDMC oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006915 (apoptotic process) | • GO:0031640 (killing of cells of another organism) |
| • GO:0045087 (innate immune response) | • GO:0008283 (cell proliferation) |
| • GO:0005737 (cytoplasm) |
Pathways
• Pyroptosis pathway (Reactome: R-HSA-5620971)
• Caspase-8 activation of GSDMC (KEGG: hsa04217)
Protein Summary
GSDMC is a 507-amino acid protein with an N-terminal pore-forming domain and a C-terminal autoinhibitory domain. Upon proteolytic cleavage by caspase-8 or other proteases, the N-terminal domain oligomerizes and inserts into the plasma membrane, forming pores that disrupt ion homeostasis and induce pyroptosis. The protein is expressed in epithelial tissues and is upregulated in various cancers, where it modulates the tumor microenvironment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSDMC Knockout HEK293 Cell Line | EDJ-KQ13692 | Human | 56169 | Details Get a Quote |
| GSDMC Knockout HeLa Cell Line | EDJ-KQ56718 | Human | 56169 | Details Get a Quote |
| GSDMC Knockout A-549 Cell Line | EDJ-KQ65223 | Human | 56169 | Details Get a Quote |
| GSDMC Knockout HCT 116 Cell Line | EDJ-KQ73661 | Human | 56169 | Details Get a Quote |
| GSDMC Knockout MCF-7 Cell Line | EDC07563 | Human | 56169 | Details Get a Quote |
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