GSDMC

gasdermin C, the group of Gasdermins

Basic information

Region (hg38): 8:129748196-129786624

Previous symbols: [ "MLZE" ]

Links

ENSG00000147697 ∙ NCBI:56169 ∙ OMIM:608384 ∙ HGNC:7151 ∙ Uniprot:Q9BYG8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSDMC gene.

• not_specified (53 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSDMC gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031415.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			50	3	2	55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	3	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSDMC	protein_coding	protein_coding	ENST00000276708	13	38693

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.09e-14	0.0680	125711	0	34	125745	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.514	286	263	1.09	0.0000129	3329
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00119	0.00119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000382	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.000382	0.000381
South Asian	0.0000655	0.0000653
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0247
• hipred: N
• hipred_score: 0.123
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0151

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gsdmc4

Gene ontology

• Biological process: biological_process;pyroptosis
• Cellular component: cytoplasm;mitochondrion;microtubule organizing center;cytosol;plasma membrane
• Molecular function: phosphatidylserine binding;molecular_function;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-4-phosphate binding