GSDMC (gasdermin C)

Gene

• Entrez ID: 56169
• Gene name: Gasdermin C
• Gene symbol: GSDMC
• Synonyms (NCBI Gene): MLZE
• Chromosome: 8
• Chromosome location: 8q24.21

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 608384
• HGNC: 7151
• e!Ensembl: ENSG00000147697

Protein

• UniProt ID: 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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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