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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79792
Gene name Gene Name - the full gene name approved by the HGNC.	Gasdermin D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GSDMD
Synonyms (NCBI Gene) Gene synonyms aliases	DF5L, DFNA5L, FKSG10, GSDMDC1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(6)

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

Show/Hide all(82)

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

MIM	HGNC	e!Ensembl
617042	25697	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

Interactions

View interactions

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

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.
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amniotic Band Syndrome	Stimulate	31461796
Anemia Aplastic	Associate	40481763
Arthritis Rheumatoid	Associate	37386795
Atherosclerosis	Associate	36544106, 39978305
Atrial Fibrillation	Associate	37083255
Autoimmune Lymphoproliferative Syndrome	Associate	28154144
Breast Neoplasms	Associate	37800794
Carcinogenesis	Associate	37371484
Carcinoma Hepatocellular	Stimulate	34731088
Carcinoma Hepatocellular	Associate	37486695, 40302327
Carcinoma Non Small Cell Lung	Associate	37194012
Carcinoma Pancreatic Ductal	Associate	32958051
Cardiomyopathies	Associate	35653888
Cardiovascular Diseases	Stimulate	36544106
Carotid Artery Diseases	Associate	38167983
Carotid Stenosis	Stimulate	38167983
Cerebral Infarction	Associate	37083255
Colorectal Neoplasms	Associate	30226619, 35836259
Endometrial Neoplasms	Associate	35442481
Erythema elevatum diutinum	Associate	35941120
Esophageal Neoplasms	Associate	40295580
Exophthalmos	Associate	36544106
Fibrosis	Stimulate	35521691
Fibrosis	Associate	35941120
Glioma	Associate	35463276, 36199426, 37371484
Hyperuricemia	Stimulate	35714832
Immunoglobulin G4 Related Disease	Associate	35218237
Infections	Associate	37486928
Inflammation	Associate	31461796, 32714980, 35008842, 35634294, 35794137, 35941120, 36647737, 37083255, 38060559
Inflammatory Bowel Diseases	Associate	28154144, 36647737
Juvenile gout	Stimulate	35714832
Labor Pain	Associate	31006293
Leukemia	Associate	34681898
Leukemia Biphenotypic Acute	Associate	37095455
Liver Cirrhosis	Stimulate	35634294
Lung Neoplasms	Stimulate	37194012
Lymphatic Metastasis	Associate	37194012
Melanoma Cutaneous Malignant	Associate	37950289
Myocardial Infarction	Associate	35229543
Myocardial Infarction	Stimulate	36544106
Necrosis	Associate	35634294
Neoplasm Metastasis	Associate	30226619
Neoplasms	Associate	36199426, 36605187, 37371484
Non alcoholic Fatty Liver Disease	Associate	35521691
Obstetric Labor Premature	Associate	31461796
Osteoglophonic dwarfism	Associate	35403328
Osteoporosis	Associate	35990678
Osteosarcoma	Associate	40595878
Ovarian Neoplasms	Associate	36707884
Periodontitis	Associate	35990678, 39978305
Plaque Atherosclerotic	Associate	35714832
Pulmonary Disease Chronic Obstructive	Associate	35583006
Sertoli Cell Only Syndrome	Associate	37296437
Stroke	Associate	37083255, 38167983
Tertiary Lymphoid Structures	Associate	30226619
Thromboembolism	Associate	37083255
Triple Negative Breast Neoplasms	Associate	37681500
Ureteral Obstruction	Stimulate	35941120
Uterine Cervical Neoplasms	Associate	17504382

GSDMD (gasdermin D)