GSDMA

protein-coding

gasdermin A, the group of Gasdermins

Gene summary

Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in several cellular components, including cytosol; nuclear body; and perinuclear region of cytoplasm. Is active in membrane. Biomarker of lung adenocarcinoma. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

GSDM
GSDM1

MANE transcript

NM_178171.5

Inheritance

—

ClinVar variants

U:55B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.02

Max pathogenic AF

—

Genomic locus

chr17:39,953,263-39,977,768

External References & Databases

Ensembl (ENSG00000167914)

Transcript & Mutation Effects

hg38 • Region Span ~24.5 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GSDMA variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 55

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178171.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			52 clinvar	4 clinvar		56
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	55	6	0	61

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178171.5	RefSeq	NP_835465.2	11	MANE Select
ENST00000301659.9	Ensembl	ENSP00000301659.4	11	MANE Select
ENST00000577447.1	Ensembl	ENSP00000461985.1	3	Standard
ENST00000635792.1	Ensembl	ENSP00000490739.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process
pyroptosis

Molecular Function

phosphatidylserine binding
phosphatidylinositol-4,5-bisphosphate binding
phosphatidylinositol-4-phosphate binding

Cellular Component

cytosol
plasma membrane
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301659
Coding exons: 11
Length: 14794
Individuals with no LoFs: 124434
Homozygous LoFs: 1
Heterozygous LoFs: 211
Defined: 124646
p: 0.000851

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.277	224	236	0.949	0.0000130	2823
Missense (PolyPhen)		79	80.85	0.97712		1010
Synonymous	1.02	88	101	0.871	0.00000587	898
Loss of Function	-0.0841	24	23.6	1.02	0.00000145	250

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00056	0.00052	rare
Latino/Admixed American	0.00057	0.00055	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00098	0.00089	rare
Finnish	0.000095	0.000093	rare
European (Non-Finnish)	0.00057	0.00054	rare
South Asian	0.0036	0.0034	notable
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable). {ECO:0000269|PubMed:27281216, ECO:0000305, ECO:0000305|PubMed:17471240, ECO:0000305|PubMed:27281216}.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.907
RVIS EVS: 0.4
RVIS percentile EVS: 76.41

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.190

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High