Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56169
Gene name Gene Name - the full gene name approved by the HGNC.	Gasdermin C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GSDMC
Synonyms (NCBI Gene) Gene synonyms aliases	MLZE
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.21

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

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

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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Stimulate	31939622
Breast Neoplasms	Associate	35233921, 36042287
Carcinoma Hepatocellular	Associate	35535333, 37919059
Carcinoma Renal Cell	Stimulate	34778452
Glioma	Associate	21742680, 35463276
Intervertebral disc disease	Associate	33273635
Lichen Planus Oral	Associate	37741915
Liver Neoplasms	Associate	35562678
Lumbar Stenosis Familial	Associate	33273635
Melanoma Cutaneous Malignant	Associate	34903008
Neoplasm Metastasis	Associate	37919059
Neoplasms	Stimulate	34778452
Neoplasms	Associate	36042287
Pancreatic Neoplasms	Associate	36199146
Pulmonary Disease Chronic Obstructive	Associate	37194062

GSDMC (gasdermin C)