Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
GSDMD gasdermin D	DF5L , DFNA5L , FKSG10 , GSDMDC1	Homo sapiens	14		GSDMA GSDMC GSDMB PJVK		617042

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 described. [provided by RefSeq, Oct 2009]

GeneOntology

Function (1)

Go ID	Value	Evidence
1901612	enables cardiolipin binding	ISS

Component (14)

Go ID	Value	Evidence
0072559	part_of NLRP3 inflammasome complex	IBA
0072559	part_of NLRP3 inflammasome complex	ISS
0005829	located_in cytosol	ISS
0005829	located_in cytosol	TAS
0005576	located_in extracellular region	TAS
0005615	located_in extracellular space	ISS
1904813	located_in ficolin-1-rich granule lumen	TAS
0016020	is_active_in membrane	IDA
0031966	located_in mitochondrial membrane	ISS
0005654	located_in nucleoplasm	IDA
0005886	is_active_in plasma membrane	IDA
0005886	located_in plasma membrane	ISS
0035580	located_in specific granule lumen	TAS
1904724	located_in tertiary granule lumen	TAS

Process (15)

Go ID	Value	Evidence
0031668	involved_in cellular response to extracellular stimulus	IEA
0050829	involved_in defense response to Gram-negative bacterium	ISS
0050830	involved_in defense response to Gram-positive bacterium	ISS
0042742	involved_in defense response to bacterium	IBA
0006954	involved_in inflammatory response	IEA
0045087	involved_in innate immune response	IEA
0046931	involved_in pore complex assembly	ISS
0050729	involved_in positive regulation of inflammatory response	IDA
0032731	involved_in positive regulation of interleukin-1 beta production	ISS
0051260	involved_in protein homooligomerization	ISS
0009306	involved_in protein secretion	IDA
0070269	involved_in pyroptosis	IBA
0070269	involved_in pyroptosis	IDA
0070269	involved_in pyroptosis	ISS
0055085	involved_in transmembrane transport	IEA

Gene Loss events - GSDMD (4 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_CFLTFB	Manis crassicaudata	Pholidota	Exon(s) deletion	Full	Pholidota	10.1007/s00239-023-10118-z
GL_DF9FPH	Phataginus tricuspis	Pholidota	Exon(s) deletion	Full	Pholidota	10.1007/s00239-023-10118-z
GL_PDCYCF	Manis javanica	Pholidota	Exon(s) deletion	Full	Pholidota	10.1007/s00239-023-10118-z
GL_X7ZYW9	Manis pentadactyla	Pholidota	Exon(s) deletion	Full	Pholidota	10.1007/s00239-023-10118-z