Gene
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA 21873635
GO:0001786 Function Phosphatidylserine binding ISS
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IBA 21873635
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
Sequence length 484
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neutrophil extracellular trap formation
NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Salmonella infection
  Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
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