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Gsdme gasdermin E [ Mus musculus (house mouse) ]

Gene ID: 54722, updated on 19-Feb-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 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
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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
  • 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 wide pore channel activity ISO
Inferred from Sequence Orthology
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 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

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_018769.4NP_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