Gsdme gasdermin E [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gsdmeprovided by MGI
Official Full Name: gasdermin Eprovided by MGI
Primary source: MGI:MGI:1889850
See related: Ensembl:ENSMUSG00000029821 AllianceGenome:MGI:1889850
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dfna5; Fin15; Dfna5h; EG14210; 2310037D07Rik; 4932441K13Rik
Summary: Enables cardiolipin binding activity. Involved in cellular response to virus and pyroptotic inflammatory response. Acts upstream of or within inner ear auditory receptor cell differentiation. Located in cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 5 and sensorineural hearing loss. Orthologous to human GSDME (gasdermin E). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in large intestine adult (RPKM 17.8), CNS E18 (RPKM 5.1) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B2.3; 6 24.13 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (50167013..50240837, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (50207401..50263857, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
Title: Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
Gasdermin-E-mediated pyroptosis drives immune checkpoint inhibitor-associated myocarditis via cGAS-STING activation.
Title: Gasdermin-E-mediated pyroptosis drives immune checkpoint inhibitor-associated myocarditis via cGAS-STING activation.
GSDMD and GSDME synergy in the transition of acute kidney injury to chronic kidney disease.
Title: GSDMD and GSDME synergy in the transition of acute kidney injury to chronic kidney disease.
Inhibition of ROS/caspase-3/GSDME-mediated pyroptosis alleviates high glucose-induced injury in AML-12 cells.
Title: Inhibition of ROS/caspase-3/GSDME-mediated pyroptosis alleviates high glucose-induced injury in AML-12 cells.
Gasdermin E promotes translocation of p65 and c-jun into nucleus in keratinocytes for progression of psoriatic skin inflammation.
Title: Gasdermin E promotes translocation of p65 and c-jun into nucleus in keratinocytes for progression of psoriatic skin inflammation.
Caspase-3 and gasdermin E mediate macrophage pyroptosis in periodontitis.
Title: Caspase-3 and gasdermin E mediate macrophage pyroptosis in periodontitis.
Iron induces B cell pyroptosis through Tom20-Bax-caspase-gasdermin E signaling to promote inflammation post-spinal cord injury.
Title: Iron induces B cell pyroptosis through Tom20-Bax-caspase-gasdermin E signaling to promote inflammation post-spinal cord injury.
Intravital molecular imaging reveals that ROS-caspase-3-GSDME-induced cell punching enhances humoral immunotherapy targeting intracellular tumor antigens.
Title: Intravital molecular imaging reveals that ROS-caspase-3-GSDME-induced cell punching enhances humoral immunotherapy targeting intracellular tumor antigens.
GSDME deficiency leads to the aggravation of UVB-induced skin inflammation through enhancing recruitment and activation of neutrophils.
Title: GSDME deficiency leads to the aggravation of UVB-induced skin inflammation through enhancing recruitment and activation of neutrophils.
Autophagy promotes GSDME-mediated pyroptosis via intrinsic and extrinsic apoptotic pathways in cobalt chloride-induced hypoxia reoxygenation-acute kidney injury.
Title: Autophagy promotes GSDME-mediated pyroptosis via intrinsic and extrinsic apoptotic pathways in cobalt chloride-induced hypoxia reoxygenation-acute kidney injury.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (11) 1 citation
Targeted (4) 1 citation

General gene information

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Markers

Fin15 (e-PCR), detects polymorphism
- UniSTS:143111

U42384 (e-PCR)
- UniSTS:163384

Dfna5h (e-PCR), detects polymorphism
- UniSTS:256861

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cardiolipin binding	IDA Inferred from Direct Assay more info	PubMed
enables cardiolipin binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables wide pore channel activity	IEA Inferred from Electronic Annotation more info
enables wide pore channel activity	ISO Inferred from Sequence Orthology more info
enables wide pore channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to tumor necrosis factor	ISO Inferred from Sequence Orthology more info
involved_in cellular response to tumor necrosis factor	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to virus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to virus	ISS Inferred from Sequence or Structural Similarity more info
involved_in granzyme-mediated programmed cell death signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in granzyme-mediated programmed cell death signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of immune response to tumor cell	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of immune response to tumor cell	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of immune response to tumor cell	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in programmed cell death	ISO Inferred from Sequence Orthology more info
involved_in programmed cell death	ISS Inferred from Sequence or Structural Similarity more info
involved_in pyroptotic cell death	IEA Inferred from Electronic Annotation more info
involved_in pyroptotic inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyroptotic inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in pyroptotic inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: gasdermin-E

Names: deafness associated tumor suppressor; deafness, autosomal dominant 5 homolog; non-syndromic hearing impairment protein 5 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018769.4 → NP_061239.1 gasdermin-E precursor

See identical proteins and their annotated locations for NP_061239.1

Status: VALIDATED

Source sequence(s)

AC153819

Consensus CDS

CCDS20130.1

UniProtKB/Swiss-Prot

Q9Z2D3

UniProtKB/TrEMBL

Q3TBE9

Related

ENSMUSP00000126759.2, ENSMUST00000170142.8

Conserved Domains (2) summary

pfam04598
Location:1 → 246

Gasdermin; Gasdermin family

pfam17708
Location:280 → 464

Gasdermin_C; Gasdermin PUB domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

50167013..50240837 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152238.1 → XP_036008131.1 gasdermin-E isoform X2

UniProtKB/TrEMBL

D3YYP5, E9Q5V3

Related

ENSMUSP00000130522.2, ENSMUST00000165099.8

Conserved Domains (2) summary

pfam04598
Location:1 → 246

Gasdermin; Gasdermin family

pfam17708
Location:279 → 422

Gasdermin_C; Gasdermin PUB domain
XM_030255507.2 → XP_030111367.1 gasdermin-E isoform X1

UniProtKB/Swiss-Prot

Q9Z2D3

UniProtKB/TrEMBL

Q3TBE9

Related

ENSMUSP00000031845.7, ENSMUST00000031845.13

Conserved Domains (2) summary

pfam04598
Location:1 → 246

Gasdermin; Gasdermin family

pfam17708
Location:280 → 464

Gasdermin_C; Gasdermin PUB domain
XM_006506402.5 → XP_006506465.1 gasdermin-E isoform X3

UniProtKB/TrEMBL

D3YYP5

Related

ENSMUSP00000098952.4, ENSMUST00000101405.10

Conserved Domains (2) summary

pfam04598
Location:1 → 246

Gasdermin; Gasdermin family

pfam17708
Location:280 → 397

Gasdermin_C; Gasdermin PUB domain