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    Gsdma2 gasdermin A2 [ Mus musculus (house mouse) ]

    Gene ID: 76758, updated on 8-Feb-2024

    Summary

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    Official Symbol
    Gsdma2provided by MGI
    Official Full Name
    gasdermin A2provided by MGI
    Primary source
    MGI:MGI:1921490
    See related
    Ensembl:ENSMUSG00000017211 AllianceGenome:MGI:1921490
    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
    Gsdm2; Gsdml2; GsdmA-2; 2200001G21Rik; 2210006M16Rik; 2210009F20Rik; 2210411P14Rik
    Summary
    Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Predicted to be involved in apoptotic process; defense response to bacterium; and pyroptosis. Predicted to act upstream of or within programmed cell death. Predicted to be located in perinuclear region of cytoplasm. Is expressed in esophagus epithelium and stomach. Orthologous to human GSDMA (gasdermin A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward stomach adult (RPKM 247.5) See more
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    Genomic context

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    Location:
    11 D; 11 62.28 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (98537569..98548791)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (98646743..98657964)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_30672 Neighboring gene serine and arginine rich splicing factor 3, pseudogene Neighboring gene gasdermin A3 Neighboring gene STARR-positive B cell enhancer ABC_E7059 Neighboring gene gasdermin A Neighboring gene STARR-seq mESC enhancer starr_30673 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:98543708-98543891 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 3

    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. The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3. Runkel F, et al. Genomics, 2004 Nov. PMID 15475261
    2. Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. Katoh M, et al. Int J Oncol, 2004 Apr. PMID 15010812
    3. Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. Tamura M, et al. Genomics, 2007 May. PMID 17350798
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC130173, MGC130174

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables wide pore channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to bacterium ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within programmed cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pyroptosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyroptosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gasdermin-A2
    Names
    gasdermin-2
    gasderminA-2

    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_001363220.1 → NP_001350149.1  gasdermin-A2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL591125, BC109335
      Consensus CDS
      CCDS36301.1
      UniProtKB/Swiss-Prot
      Q32M21, Q8CF01, Q9D810
      UniProtKB/TrEMBL
      A0A679B178
      Conserved Domains (1) summary
      pfam04598
      Location:3 → 416
      Gasdermin; Gasdermin family

    2. NM_001363221.1 → NP_001350150.1  gasdermin-A2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK008613, AL591125
      Consensus CDS
      CCDS88246.1
      Related
      ENSMUSP00000017355.6, ENSMUST00000017355.12
      Conserved Domains (1) summary
      pfam04598
      Location:19 → 249
      Gasdermin; Gasdermin family

    3. NM_029727.3 → NP_084003.2  gasdermin-A2 isoform 1

      See identical proteins and their annotated locations for NP_084003.2

      Status: VALIDATED

      Source sequence(s)
      AK008663, BC109336, BY090779
      Consensus CDS
      CCDS36301.1
      UniProtKB/Swiss-Prot
      Q32M21, Q8CF01, Q9D810
      UniProtKB/TrEMBL
      A0A679B178
      Related
      ENSMUSP00000091470.4, ENSMUST00000093938.10
      Conserved Domains (1) summary
      pfam04598
      Location:3 → 416
      Gasdermin; Gasdermin family

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      98537569..98548791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157079.1 → XP_036012972.1  gasdermin-A2 isoform X1

      UniProtKB/TrEMBL
      A0A679B178
      Conserved Domains (2) summary
      pfam04598
      Location:24 → 254
      Gasdermin; Gasdermin family
      pfam17708
      Location:273 → 437
      Gasdermin_C; Gasdermin PUB domain

    2. XM_006534455.3 → XP_006534518.1  gasdermin-A2 isoform X1

      UniProtKB/TrEMBL
      A0A679B178
      Conserved Domains (2) summary
      pfam04598
      Location:24 → 254
      Gasdermin; Gasdermin family
      pfam17708
      Location:273 → 437
      Gasdermin_C; Gasdermin PUB domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32M21.1 GenPept UniProtKB/Swiss-Prot:Q32M21

    Gene LinkOut

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

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