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    Gsdme gasdermin E [ Mus musculus (house mouse) ]

    Gene ID: 54722, updated on 17-Mar-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 necrotic cell death. Acts upstream of or within inner ear 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, Apr 2022]
    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
    • 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 mediates mitochondrial damage in axons and neurodegeneration. Neel DV, et al. Neuron, 2023 Apr 19. PMID 36917977,
    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 photoreceptor damage by all-trans-retinal in the mouse retina. Cai B, et al. J Biol Chem, 2022 Feb. PMID 34973334, Free PMC Article
    5. Plasma membrane perforation by GSDME during apoptosis-driven secondary necrosis. De Schutter E, et al. Cell Mol Life Sci, 2021 Dec 31. PMID 34971436, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Caspase-3 and gasdermin E mediate macrophage pyroptosis in periodontitis.
      Title: Caspase-3 and gasdermin E mediate macrophage pyroptosis in periodontitis.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Gasdermin E mediates photoreceptor damage by all-trans-retinal in the mouse retina.
      Title: Gasdermin E mediates photoreceptor damage by all-trans-retinal in the mouse retina.
    8. Radiosensitivity of colorectal cancer and radiation-induced gut damages are regulated by gasdermin E.
      Title: Radiosensitivity of colorectal cancer and radiation-induced gut damages are regulated by gasdermin E.
    9. Gasdermin E permits interleukin-1 beta release in distinct sublytic and pyroptotic phases.
      Title: Gasdermin E permits interleukin-1 beta release in distinct sublytic and pyroptotic phases.
    10. Gasdermin-E-mediated pyroptosis participates in the pathogenesis of Crohn's disease by promoting intestinal inflammation.
      Title: Gasdermin-E-mediated pyroptosis participates in the pathogenesis of Crohn's disease by promoting intestinal inflammation.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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 wide pore channel activity ISO
    Inferred from Sequence Orthology
    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 virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to virus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in granzyme-mediated programmed cell death signaling pathway ISO
    Inferred from Sequence Orthology
    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 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 immune response to tumor cell ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of intrinsic apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in programmed cell death ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in pyroptosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pyroptosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    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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