GSDMC

protein-coding

gasdermin C, the group of Gasdermins

Gene summary

Enables wide pore channel activity. Involved in pyroptotic inflammatory response. Located in cytoplasm. Is active in plasma membrane. Biomarker of lung adenocarcinoma. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

MLZE

MANE transcript

NM_031415.3

Inheritance

—

ClinVar variants

U:68B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr8:129,748,196-129,786,624

External References & Databases

Ensembl (ENSG00000147697)

Transcript & Mutation Effects

hg38 • Region Span ~38.4 kb

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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 GSDMC variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 64

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031415.3. 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 clinvar	4
missense			62 clinvar	4 clinvar	2 clinvar	68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	68	4	4	76

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031415.3	RefSeq	NP_113603.1	13	MANE Select
ENST00000276708.9	Ensembl	ENSP00000276708.4	13	MANE Select
XM_011517158.3	RefSeq	XP_011515460.1	12	Standard
XM_011517159.3	RefSeq	XP_011515461.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process
pyroptosis

Molecular Function

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

Cellular Component

cytoplasm
mitochondrion
microtubule organizing center
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000276708
Coding exons: 13
Length: 38693
Individuals with no LoFs: 125711
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 125745
p: 0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.514	286	263	1.09	0.0000129	3329
Missense (PolyPhen)		73	76.248	0.9574		1090
Synonymous	-0.129	103	101	1.02	0.00000525	938
Loss of Function	0.580	22	25.1	0.875	0.00000116	307

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00099	0.00098	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00038	0.00038	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable). {ECO:0000269|PubMed:27281216, ECO:0000305}.;

Recessive Scores

pRec: 0.0750

Intolerance Scores

LoFtool: 0.959
RVIS EVS: 0.69
RVIS percentile EVS: 85.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0151

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium