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    Gsdme gasdermin E [ Mus musculus (house mouse) ]

    Gene ID: 54722, updated on 2-Nov-2024

    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, Nov 2024]
    Expression
    Broad expression in large intestine adult (RPKM 17.8), CNS E18 (RPKM 5.1) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_018769.4NP_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:1246
      Gasdermin; Gasdermin family
      pfam17708
      Location:280464
      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_036152238.1XP_036008131.1  gasdermin-E isoform X2

      UniProtKB/TrEMBL
      D3YYP5, E9Q5V3
      Related
      ENSMUSP00000130522.2, ENSMUST00000165099.8
      Conserved Domains (2) summary
      pfam04598
      Location:1246
      Gasdermin; Gasdermin family
      pfam17708
      Location:279422
      Gasdermin_C; Gasdermin PUB domain
    2. XM_030255507.2XP_030111367.1  gasdermin-E isoform X1

      UniProtKB/Swiss-Prot
      Q9Z2D3
      UniProtKB/TrEMBL
      Q3TBE9
      Related
      ENSMUSP00000031845.7, ENSMUST00000031845.13
      Conserved Domains (2) summary
      pfam04598
      Location:1246
      Gasdermin; Gasdermin family
      pfam17708
      Location:280464
      Gasdermin_C; Gasdermin PUB domain
    3. XM_006506402.5XP_006506465.1  gasdermin-E isoform X3

      UniProtKB/TrEMBL
      D3YYP5
      Related
      ENSMUSP00000098952.4, ENSMUST00000101405.10
      Conserved Domains (2) summary
      pfam04598
      Location:1246
      Gasdermin; Gasdermin family
      pfam17708
      Location:280397
      Gasdermin_C; Gasdermin PUB domain

    RNA

    1. XR_003956235.2 RNA Sequence

    2. XR_001785156.3 RNA Sequence