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Gsdme gasdermin E [ Mus musculus (house mouse) ]

Gene ID: 54722, updated on 12-Nov-2024

Summary

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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, Nov 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

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See Gsdme in Genome Data Viewer
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_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_15836 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15837 Neighboring gene STARR-seq mESC enhancer starr_15840 Neighboring gene STARR-seq mESC enhancer starr_15842 Neighboring gene predicted gene, 38805 Neighboring gene STARR-seq mESC enhancer starr_15843 Neighboring gene protein associated with LIN7 2, MAGUK family member Neighboring gene STARR-positive B cell enhancer mm9_chr6:50244177-50244478 Neighboring gene STARR-seq mESC enhancer starr_15846 Neighboring gene STARR-positive B cell enhancer ABC_E8102 Neighboring gene STARR-seq mESC enhancer starr_15847 Neighboring gene oxysterol binding protein-like 3 Neighboring gene predicted gene, 52900 Neighboring gene predicted gene, 40372

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Gasdermin E Deletion Attenuates Ureteral Obstruction- and 5/6 Nephrectomy-Induced Renal Fibrosis and Kidney Dysfunction. Wu M, et al. Front Cell Dev Biol, 2021. PMID 34746148, Free PMC Article
  2. GSDME deficiency leads to the aggravation of UVB-induced skin inflammation through enhancing recruitment and activation of neutrophils. Chen Y, et al. Cell Death Dis, 2022 Oct 1. PMID 36182937, Free PMC Article
  3. Radiosensitivity of colorectal cancer and radiation-induced gut damages are regulated by gasdermin E. Tan G, et al. Cancer Lett, 2022 Mar 31. PMID 34979164
  4. Gasdermin-E mediates mitochondrial damage in axons and neurodegeneration. Neel DV, et al. Neuron, 2023 Apr 19. PMID 36917977, Free PMC Article
  5. Cyclophosphamide induced intestinal injury is alleviated by blocking the TLR9/caspase3/GSDME mediated intestinal epithelium pyroptosis. Luo X, et al. Int Immunopharmacol, 2023 Jun. PMID 37137263

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Caspase-3 and gasdermin E mediate macrophage pyroptosis in periodontitis.
    Title: Caspase-3 and gasdermin E mediate macrophage pyroptosis in periodontitis.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Pathways from PubChem

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General gene information

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Markers

Homology

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)

  1. 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

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    50167013..50240837 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

RNA

  1. XR_003956235.2 RNA Sequence

  2. XR_001785156.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z2D3.1 GenPept UniProtKB/Swiss-Prot:Q9Z2D3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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