AutismKB 2.0

Annotation Details for GSDMD


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Basic Information Top
Gene Symbol:GSDMD ( DF5L,DFNA5L,FLJ12150,GSDMDC1 )
Gene Full Name: gasdermin D
Band: 8q24.3
Quick LinksEntrez ID:79792; OMIM: NA; Uniprot ID:GSDMD_HUMAN; ENSEMBL ID: ENSG00000104518; HGNC ID: 25697
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615ISS-extracellular space-
GO:0005654IDA-nucleoplasm-
GO:0005829ISS-cytosol-
GO:0005886ISS-plasma membrane-
GO:0035580TAS-specific granule lumen-
GO:0072559ISS-NLRP3 inflammasome complex-
GO:1904724TAS-tertiary granule lumen-
GO:1904813TAS-ficolin-1-rich granule lumen-
GO ID Evidence Qualifier GO_term References
GO:0001786ISS-phosphatidylserine binding-
GO:0005515IPI-protein binding25416956
GO:0005546ISS-phosphatidylinositol-4,5-bisphosphate binding-
GO:0070273ISS-phosphatidylinositol-4-phosphate binding-
GO:0070300ISS-phosphatidic acid binding-
GO:1901612ISS-cardiolipin binding-
GO ID Evidence Qualifier GO_term References
GO:0006954IEA-inflammatory response-
GO:0019835ISS-cytolysis-
GO:0031668IEA-cellular response to extracellular stimulus-
GO:0035915ISS-pore formation in membrane of other organism-
GO:0043312TAS-neutrophil degranulation-
GO:0045087IEA-innate immune response-
GO:0046931ISS-pore complex assembly-
GO:0050718ISS-positive regulation of interleukin-1 beta secretion-
GO:0050829ISS-defense response to Gram-negative bacterium-
GO:0050830ISS-defense response to Gram-positive bacterium-
GO:0051260ISS-protein homooligomerization-
GO:0070269ISS-pyroptosis-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916396
  • Data Attributes: HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018