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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GSDME
gasdermin E
Chromosome 7 Β· 7p15.3
NCBI Gene: 1687Ensembl: ENSG00000105928.17HGNC: HGNC:2810UniProt: A4FVA8
112PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingphosphatidylinositol-4,5-bisphosphate bindingwide pore channel activitycardiolipin bindingautosomal dominant nonsyndromic hearing lossbipolar disordernonsyndromic genetic hearing losscancer
✦AI Summary

GSDME (gasdermin E) is a pore-forming protein that executes pyroptosis, a form of inflammatory programmed cell death 1. GSDME is activated through caspase-3 cleavage of its linker domain, releasing an N-terminal fragment that perforates cell membranes 2. This activation can be triggered by chemotherapy drugs, TNF, and granzyme B from cytotoxic lymphocytes 23. GSDME functions as a tumor suppressor by converting apoptotic signals to pyroptosis, which enhances anti-tumor immunity through increased phagocytosis by macrophages and activation of CD8+ T cells and natural killer cells 3. However, dysregulated GSDME-mediated pyroptosis contributes to pathological inflammation in atherosclerosis, where GSDME is highly expressed in macrophages and regulated by STAT3 4. In the nervous system, GSDME mediates mitochondrial damage and axon loss in neurodegeneration, with GSDME knockout extending survival in ALS models 5. Recently, GSDME-mediated pyroptosis was identified as a driver of immune checkpoint inhibitor-induced myocarditis through cGAS-STING-interferon activation 6. GSDME phosphorylation by AMPK at Thr6 negatively regulates pyroptosis and can be enhanced by mannose metabolism, offering therapeutic potential to reduce chemotherapy toxicity 7. GSDME mutations associated with autosomal dominant deafness disrupt its pore-forming function 2.

Sources cited
1
GSDME is a gasdermin family member that executes pyroptosis through pore-forming activity and contributes to dysregulated pyroptotic responses in various diseases
PMID: 37352727
2
GSDME is cleaved by caspase-3 to produce a pore-forming N-terminal fragment that induces pyroptosis in response to TNF and chemotherapy; GSDME was originally identified as DFNA5 (deafness, autosomal dominant 5)
PMID: 28459430
3
GSDME acts as a tumor suppressor by promoting pyroptosis and activating anti-tumor immunity through enhanced phagocytosis and activation of cytotoxic lymphocytes; granzyme B directly cleaves GSDME
PMID: 32188940
4
GSDME-mediated pyroptosis promotes atherosclerosis progression, particularly in macrophages, and is positively regulated by STAT3
PMID: 36807553
5
GSDME mediates mitochondrial damage and axon loss in neurons; GSDME knockout extends survival and reduces neurodegeneration in ALS models
PMID: 36917977
6
AMPK phosphorylates GSDME at Thr6 to block caspase-3-induced cleavage and inhibit pyroptosis; mannose enhances this protective mechanism
PMID: 37460805
7
GSDME-mediated pyroptosis drives immune checkpoint inhibitor-induced myocarditis through mitochondrial DNA release and cGAS-STING-interferon activation
PMID: 39103324
8
GSDME in tumor-associated macrophages promotes M2-like polarization and anti-PD1 resistance through PDPK1-PI3K-AKT pathway activation
PMID: 39496854
Disease Associationsβ“˜21
autosomal dominant nonsyndromic hearing lossOpen Targets
0.63Moderate
bipolar disorderOpen Targets
0.46Moderate
nonsyndromic genetic hearing lossOpen Targets
0.41Moderate
cancerOpen Targets
0.40Weak
head and neck squamous cell carcinomaOpen Targets
0.39Weak
melanomaOpen Targets
0.39Weak
deafnessOpen Targets
0.37Weak
Non-syndromic genetic deafnessOpen Targets
0.37Weak
schizophreniaOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.35Weak
Rare genetic deafnessOpen Targets
0.34Weak
major depressive disorderOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.33Weak
smoking initiationOpen Targets
0.31Weak
hemolytic anemiaOpen Targets
0.30Weak
cholelithiasisOpen Targets
0.28Weak
anorexia nervosaOpen Targets
0.26Weak
autism spectrum disorderOpen Targets
0.26Weak
obsessive-compulsive disorderOpen Targets
0.26Weak
Tourette syndromeOpen Targets
0.26Weak
Deafness, autosomal dominant, 5UniProt
Pathogenic Variants8
NM_001127453.2(GSDME):c.991-21TTC[2]Pathogenic
Rare genetic deafness|not provided|Autosomal dominant nonsyndromic hearing loss 5|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026
NM_001127453.2(GSDME):c.1183+1G>APathogenic
not provided
β˜…β˜…β˜†β˜†2023
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 5
β˜…β˜†β˜†β˜†2025β†’ Residue 368
NM_001127453.2(GSDME):c.1183+1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61delLikely pathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2016
NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 5
β˜†β˜†β˜†β˜†2016β†’ Residue 372
NM_004403.3(GSDME):c.1183+4A>GPathogenic
Autosomal dominant nonsyndromic hearing loss 5
β˜†β˜†β˜†β˜†2007
NM_004403.3(GSDME):c.991-6C>GPathogenic
Autosomal dominant nonsyndromic hearing loss 5
β˜†β˜†β˜†β˜†2004
View on ClinVar β†—
Related Genes
HMGB1Protein interaction100%CASP3Protein interaction99%GSDMAProtein interaction98%GSDMBProtein interaction98%TP53Protein interaction95%CYCSProtein interaction91%
Tissue Expression6 tissues
Ovary
100%
Heart
63%
Brain
38%
Liver
26%
Lung
24%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
GSDMEHMGB1CASP3GSDMAGSDMBTP53CYCS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60443
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.69–1.14]
RankingsWhere GSDME stands among ~20K protein-coding genes
  • #4,227of 20,598
    Most Researched112 Β· top quartile
  • #3,051of 5,498
    Most Pathogenic Variants8
  • #11,859of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedGSDME
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pyroptosis-induced inflammation and tissue damage.
PMID: 37352727
Semin Immunol Β· 2023
1.00
2
GSDME-mediated pyroptosis promotes the progression and associated inflammation of atherosclerosis.
PMID: 36807553
Nat Commun Β· 2023
0.90
3
Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin.
PMID: 28459430
Nature Β· 2017
0.80
4
Gasdermin E suppresses tumour growth by activating anti-tumour immunity.
PMID: 32188940
Nature Β· 2020
0.70
5
Mannose antagonizes GSDME-mediated pyroptosis through AMPK activated by metabolite GlcNAc-6P.
PMID: 37460805
Cell Res Β· 2023
0.60