GSDMD (gasdermin D)

Gene

• Entrez ID: 79792
• Gene name: Gasdermin D
• Gene symbol: GSDMD
• Synonyms (NCBI Gene): DF5L, DFNA5L, FKSG10, GSDMDC1
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been descr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT733592	hsa-miR-22-5p	Luciferase reporter assay	32307887
MIRT736884	hsa-miR-22-3p	Immunofluorescence	34250722
MIRT2007070	hsa-miR-4715-3p	CLIP-seq
MIRT2239603	hsa-miR-4470	CLIP-seq
MIRT2239604	hsa-miR-541	CLIP-seq
MIRT2239605	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	IDA	20530211
GO:0001786	Function	Phosphatidylserine binding	IBA
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0001786	Function	Phosphatidylserine binding	ISS
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 34296442
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	27281216, 36227980
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	32109412, 33883744, 36227980, 38530158, 38599239
GO:0005886	Component	Plasma membrane	IDA	33883744
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009306	Process	Protein secretion	IDA	33883744, 37993712, 37993714
GO:0009306	Process	Protein secretion	IDA	33883744, 37993712, 37993714
GO:0009306	Process	Protein secretion	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0016020	Component	Membrane	IDA	32109412, 33883744
GO:0016020	Component	Membrane	IEA
GO:0022829	Function	Wide pore channel activity	IDA	32109412, 32820063, 33883744, 35794369, 38040708, 38530158, 38599239
GO:0022829	Function	Wide pore channel activity	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031966	Component	Mitochondrial membrane	ISS
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032732	Process	Positive regulation of interleukin-1 production	IDA	33883744
GO:0032741	Process	Positive regulation of interleukin-18 production	IDA	33883744
GO:0035580	Component	Specific granule lumen	TAS
GO:0035655	Process	Interleukin-18-mediated signaling pathway	IDA	14528293, 25500532
GO:0042742	Process	Defense response to bacterium	IBA
GO:0044546	Process	NLRP3 inflammasome complex assembly	IDA	35114687, 35254907
GO:0045087	Process	Innate immune response	IEA
GO:0046513	Process	Ceramide biosynthetic process	IDA	17303575
GO:0046931	Process	Pore complex assembly	IEA
GO:0046931	Process	Pore complex assembly	ISS
GO:0050729	Process	Positive regulation of inflammatory response	IDA	33883744
GO:0050729	Process	Positive regulation of inflammatory response	IDA	32109412, 33883744
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	ISS
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	ISS
GO:0051260	Process	Protein homooligomerization	IDA	33883744, 38040708
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051260	Process	Protein homooligomerization	ISS
GO:0051604	Process	Protein maturation	IDA	21157428
GO:0055085	Process	Transmembrane transport	IEA
GO:0061702	Component	Canonical inflammasome complex	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IBA
GO:0070269	Process	Pyroptotic inflammatory response	IDA	32109412, 33883744
GO:0070269	Process	Pyroptotic inflammatory response	IDA	28392147, 30361383, 32109412, 33883744, 36227980
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0070269	Process	Pyroptotic inflammatory response	ISS
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IBA
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IDA	36227980
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IEA
GO:0070300	Function	Phosphatidic acid binding	IEA
GO:0070300	Function	Phosphatidic acid binding	ISS
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IDA	1919436
GO:0072559	Component	NLRP3 inflammasome complex	IBA
GO:0072559	Component	NLRP3 inflammasome complex	IEA
GO:0072559	Component	NLRP3 inflammasome complex	ISS
GO:0141201	Process	Pyroptotic cell death	IDA	32109412, 33883744, 37198476, 38614101, 38632402
GO:0141201	Process	Pyroptotic cell death	IDA	32109412, 32820063, 33883744, 36227980, 38530158, 38599239, 38632402
GO:0141201	Process	Pyroptotic cell death	IEA
GO:1901612	Function	Cardiolipin binding	IEA
GO:1901612	Function	Cardiolipin binding	ISS
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 617042
• HGNC: 25697
• e!Ensembl: ENSG00000104518

Protein

• UniProt ID: P57764
• Protein name: Gasdermin-D (Gasdermin domain-containing protein 1) [Cleaved into: Gasdermin-D, N-terminal (GSDMD-NT) (hGSDMD-NTD); Gasdermin-D, C-terminal (GSDMD-CT) (hGSDMD-CTD); Gasdermin-D, p13 (Gasdermin-D, 13 kDa) (13 kDa GSDMD); Gasdermin-D, p40]
• Protein function: [Gasdermin-D]: Precursor of a pore-forming protein that plays a key role in host defense against pathogen infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27281216). This form constitutes the precursor of the pore-forming p
• PDB: 5NH1, 5WQT, 6AO4, 6KN0, 6N9O, 6VFE, 7Z1X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04598	Gasdermin	4 → 242	Gasdermin pore forming domain	Domain
  PF17708	Gasdermin_C	284 → 456	Gasdermin PUB domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the suprabasal cells of esophagus, as well as in the isthmus/neck, pit, and gland of the stomach, suggesting preferential expression in differentiating cells. {ECO:0000269|PubMed:19051310}.
• Sequence:

  MGSAFERVVRRVVQELDHGGEFIPVTSLQSSTGFQPYCLVVRKPSSSWFWKPRYKCVNLS
  IKDILEPDAAEPDVQRGRSFHFYDAMDGQIQGSVELAAPGQAKIAGGAAVSDSSSTSMNV
  YSLSVDPNTWQTLLHERHLRQPEHKVLQQLRSRGDNVYVVTEVLQTQKEVEVTRTHKREG
  SGRFSLPGATCLQGEGQGHLSQKKTVTIPSGSTLAFRVAQLVIDSDLDVLLFPDKKQRTF
  QPPATGHKRSTSEGAWPQLPSGLSMMRCLHNFLTDGVPAEGAFTEDFQGLRAEVETISKE
  LELLDRELCQLLLEGLEGVLRDQLALRALEEALEQGQSLGPVEPLDGPAGAVLECLVLSS
  GMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLGPLELVGSLLEQSAPWQERST
  MSLPPGLLGNSWGEGAPAWVLLDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLS
  QEPH

• Sequence length: 484

Pathways

KEGG:

Neutrophil extracellular trap formation
NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Salmonella infection

Reactome:

Neutrophil degranulation

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
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Aplastic	Aplastic anemia	Pubtator	40481763	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37386795	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28826527, 29521598		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36544106, 39978305	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37083255	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	28154144	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37800794	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37371484	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34731088	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37486695, 40302327	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32958051	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35653888	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36544106	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	38167983	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	38167983	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37083255	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	30388107		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31682173		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30226619, 35836259	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	30790610		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31608008		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35442481	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	40295580	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29273476		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35463276, 36199426, 37371484	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	35714832	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28154144, 36647737	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31787755		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31405732, 31648694, 31682173		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34681898	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	35634294	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31802832		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37194012	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37194012	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19051310, 29314754		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31616642		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	37950289	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	31611559		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29895691		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35229543	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36544106	Stimulate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35634294	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29314754, 30622323, 30940212		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	30622323		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29273476		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30106450		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29273476		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	30930743		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31582897		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	35403328	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35990678	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40595878	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36707884	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35990678, 39978305	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35583006	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29365280		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28826530, 29937272, 30135078, 30143556, 30731209, 31145977, 31189875, 31612397, 31796383		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	31814872		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29273476		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29314754		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37083255, 38167983	Associate	★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	37083255	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37681500	Associate	★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	35941120	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17504382	Associate	★☆☆☆☆ Found in Text Mining only