GSDME (Gasdermin E) Gene
Key regulator of pyroptosis, hearing loss, and cancer
Gene Information Card
| Symbol | GSDME |
|---|---|
| Full Name | gasdermin E |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 1687 ncbi.nlm.nih.gov/gene/1687 |
| Ensembl ID | ENSG00000105928 |
| UniProt ID | O60443 |
| OMIM ID | 604717 |
| HGNC ID | 2810 |
| Aliases | DFNA5, ICERE-1, GSDME-1 |
Description
GSDME (gasdermin E) encodes a member of the gasdermin protein family. It is a key executor of pyroptosis, a form of inflammatory programmed cell death, following cleavage by caspase-3. Mutations in GSDME cause autosomal dominant non-syndromic hearing loss (DFNA5). The gene also acts as a tumor suppressor in various cancers, and its expression is frequently silenced by promoter methylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant non-syndromic hearing loss (DFNA5) | Missense mutations (e.g., c.1183+1G>A) cause skipping of exon 8, leading to a truncated protein that induces cell death in cochlear hair cells. | OMIM #600994 |
| Colorectal cancer | Promoter hypermethylation silences GSDME expression; loss of GSDME reduces pyroptosis and promotes tumor growth. | NCBI Gene, COSMIC |
| Breast cancer | GSDME is downregulated by methylation; re-expression induces pyroptosis and suppresses metastasis. | NCBI Gene, COSMIC |
| Gastric cancer | Reduced GSDME expression correlates with poor prognosis; methylation-mediated silencing is common. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | N/A | High (RNA) – critical for hearing |
| Placenta | N/A | High |
| Brain | N/A | Moderate |
| Heart | N/A | Low |
| Liver | N/A | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | N/A | Low endogenous expression |
| HeLa | N/A | Low; inducible by demethylation |
| MCF7 | N/A | Silenced by methylation |
| HCT116 | N/A | Silenced by methylation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1183+1G>A (IVS7+1G>A) | Splice site | Founder mutation in Dutch families | Exon 8 skipping; truncated protein causes hearing loss |
| c.991-15_991-13delTTC | Splice site | Rare | Exon 7 skipping; hearing loss |
| c.1129G>T (p.Gly377Cys) | Missense | Rare | Unknown; reported in hearing loss |
| Promoter methylation | Epigenetic | Frequent in cancers | Silences GSDME expression |
Mutation functional classification
Loss of Function (LOF)
Promoter methylation silencing in cancers; loss of pyroptosis promotes tumorigenesis.
Gain of Function (GOF)
Splice-site mutations (e.g., c.1183+1G>A) produce a truncated protein that gains the ability to induce cell death in cochlear cells.
Dominant Negative (DN)
Not described for GSDME.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006915 – apoptotic process | • GO:0070269 – pyroptosis |
| • GO:0005634 – nucleus | • GO:0005737 – cytoplasm |
| • GO:0042802 – identical protein binding |
Pathways
• Pyroptosis (caspase-3/GSDME pathway)
• Apoptosis
Protein Summary
Gasdermin E (GSDME) is a 496-amino acid protein that forms pores in the plasma membrane upon N-terminal domain release by caspase-3 cleavage, leading to pyroptosis. It is widely expressed in cochlea, placenta, and brain. Loss of GSDME expression via promoter methylation is common in many cancers, contributing to immune evasion and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSDME Knockout HEK293 Cell Line | EDJ-KQ1015 | Human | 1687 | Details Get a Quote |
| GSDME Knockout A-549 Cell Line | EDJ-KQ20085 | Human | 1687 | Details Get a Quote |
| GSDME Knockout HCT 116 Cell Line | EDJ-KQ20086 | Human | 1687 | Details Get a Quote |
| GSDME Knockout HeLa Cell Line | EDJ-KQ20087 | Human | 1687 | Details Get a Quote |
| GSDME Knockout E6 Cell Line | EDJ-KZ275 | African green monkey | 1687 | Details Get a Quote |
| GSDME Knockout Huh-7 Cell Line | EDJ-KZ276 | Human | 1687 | Details Get a Quote |
| GSDME Knockout SK-OV-3 Cell Line | EDC07564 | Human | 1687 | Details Get a Quote |
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