Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	56169
Gene name	Gasdermin C
Gene symbol	GSDMC
Synonyms (NCBI Gene)	MLZE
Chromosome	8
Chromosome location	8q24.21

28 Show/Hide all (28)

miRTarBase ID	miRNA	Experiments
MIRT1035722	hsa-miR-1269	CLIP-seq
MIRT1035723	hsa-miR-1269b	CLIP-seq
MIRT1035724	hsa-miR-1288	CLIP-seq
MIRT1035725	hsa-miR-326	CLIP-seq
MIRT1035726	hsa-miR-330-5p	CLIP-seq
MIRT1035727	hsa-miR-378	CLIP-seq
MIRT1035728	hsa-miR-378b	CLIP-seq
MIRT1035729	hsa-miR-378c	CLIP-seq
MIRT1035730	hsa-miR-378d	CLIP-seq
MIRT1035731	hsa-miR-378e	CLIP-seq
MIRT1035732	hsa-miR-378f	CLIP-seq
MIRT1035733	hsa-miR-378h	CLIP-seq
MIRT1035734	hsa-miR-378i	CLIP-seq
MIRT1035735	hsa-miR-422a	CLIP-seq
MIRT1035736	hsa-miR-4513	CLIP-seq
MIRT1035737	hsa-miR-4515	CLIP-seq
MIRT1035738	hsa-miR-4638-3p	CLIP-seq
MIRT1035739	hsa-miR-4641	CLIP-seq
MIRT1035740	hsa-miR-4740-5p	CLIP-seq
MIRT2239594	hsa-miR-1224-5p	CLIP-seq
MIRT2239595	hsa-miR-1304	CLIP-seq
MIRT2239596	hsa-miR-2052	CLIP-seq
MIRT2239597	hsa-miR-3150b-3p	CLIP-seq
MIRT2239598	hsa-miR-3915	CLIP-seq
MIRT2239599	hsa-miR-4689	CLIP-seq
MIRT2239600	hsa-miR-4784	CLIP-seq
MIRT2239601	hsa-miR-514	CLIP-seq
MIRT2239602	hsa-miR-514b-3p	CLIP-seq

15 Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005737	Component	Cytoplasm	IDA	11223543
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	32929201
GO:0005886	Component	Plasma membrane	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0016020	Component	Membrane	IEA
GO:0022829	Function	Wide pore channel activity	IDA	32929201, 34012073
GO:0042742	Process	Defense response to bacterium	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IBA
GO:0070269	Process	Pyroptotic inflammatory response	IDA	32929201, 34012073
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IBA

MIM	HGNC	e!Ensembl
608384	7151	ENSG00000147697

Q9BYG8

Protein name

Gasdermin-C (Melanoma-derived leucine zipper-containing extranuclear factor) [Cleaved into: Gasdermin-C, N-terminal (GSDMC-NT); Gasdermin-C, C-terminal (GSDMC-CT)]

Protein function

[Gasdermin-C]: This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-C, N-terminal) binds to membranes and forms pores, triggering pyroptosis. {ECO:0000269|PubMed:32929201, ECO:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04598	Gasdermin	4 → 240	Gasdermin pore forming domain	Domain
PF17708	Gasdermin_C	313 → 482	Gasdermin PUB domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed mainly in trachea and spleen (PubMed:11223543). In the esophagus, expressed in differentiating cells and probably in differentiated cells. Also detected in gastric epithelium (PubMed:19051310). {ECO:0000269|PubMed:11223543, E

Sequence

MPSMLERISKNLVKEIGSKDLTPVKYLLSATKLRQFVILRKKKDSRSSFWEQSDYVPVEF
SLNDILEPSSSVLETVVTGPFHFSDIMIQKHKADMGVNVGIEVSVSGEASVDHGCSLEFQ
IVTIPSPNLEDFQKRKLLDPEPSFLKECRRRGDNLYVVTEAVELINNTVLYDSSSVNILG
KIALWITYGKGQGQGESLRVKKKALTLQKGMVMAYKRKQLVIKEKAILISDDDEQRTFQD
EYEISEMVGYCAARSEGLLPSFHTISPTLFNASSNDMKLKPELFLTQQFLSGHLPKYEQV
HILPVGRIEEPFWQNFKHLQEEVFQKIKTLAQLSKDVQDVMFYSILAMLRDRGALQDLMN
MLELDSSGHLDGPGGAILKKLQQDSNHAWFNPKDPILYLLEAIMVLSDFQHDLLACSMEK
RILLQQQELVRSILEPNFRYPWSIPFTLKPELLAPLQSEGLAITYGLLEECGLRMELDNP
RSTWDVEAKMPLSALYGTLSLLQQLAEA

Sequence length

508

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	23266556	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	30664745	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	30664745	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
Breast Neoplasms	Breast neoplasm	Pubtator	35233921, 36042287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35535333, 37919059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34778452	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27835699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21742680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21742680, 35463276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	33273635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35562678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19051310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34903008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27835699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36199146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37194062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with GSDMC across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for GSDMC.

Diseases Linked via Similar Genes Diseases curated for genes most similar to GSDMC (see Related Genes above), that are NOT already directly curated for GSDMC itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to GSDMC.

GSDMC (gasdermin C)

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