U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    GSDMD gasdermin D [ Homo sapiens (human) ]

    Gene ID: 79792, updated on 2-Nov-2024

    Summary

    Official Symbol
    GSDMDprovided by HGNC
    Official Full Name
    gasdermin Dprovided by HGNC
    Primary source
    HGNC:HGNC:25697
    See related
    Ensembl:ENSG00000104518 MIM:617042; AllianceGenome:HGNC:25697
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DF5L; DFNA5L; FKSG10; GSDMDC1
    Summary
    Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in spleen (RPKM 35.6), duodenum (RPKM 18.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GSDMD in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143553387..143563062)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144702722..144712453)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144635557..144645232)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 3 Neighboring gene small nucleolar RNA, C/D box 149 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144597771-144597965 Neighboring gene RN7SK pseudogene 175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144631415-144632004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144632005-144632593 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144635671-144636416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144636417-144637160 Neighboring gene uncharacterized LOC100310756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144640331-144640972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144653451-144654300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144659908-144660815 Neighboring gene maestro heat like repeat family member 6 Neighboring gene nicotinate phosphoribosyltransferase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2024-03-27)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2024-03-27)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12150

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cardiolipin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-4-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylserine binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables wide pore channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in defense response to Gram-negative bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in defense response to Gram-positive bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pore complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-1 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-18 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyroptotic cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyroptotic inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pyroptotic inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyroptotic inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of NLRP3 inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of NLRP3 inflammasome complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    gasdermin-D
    Names
    gasdermin domain containing 1
    gasdermin domain-containing protein 1

    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_001166237.1NP_001159709.1  gasdermin-D

      See identical proteins and their annotated locations for NP_001159709.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK291817, BC008904, BC069000
      Consensus CDS
      CCDS34956.1
      UniProtKB/Swiss-Prot
      A8K702, D3DWJ9, P57764, Q96Q98
      UniProtKB/TrEMBL
      G3V1A6
      Related
      ENSP00000433209.1, ENST00000526406.5
      Conserved Domains (1) summary
      pfam04598
      Location:4456
      Gasdermin; Gasdermin family
    2. NM_024736.7NP_079012.3  gasdermin-D

      See identical proteins and their annotated locations for NP_079012.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC008904, BC069000
      Consensus CDS
      CCDS34956.1
      UniProtKB/Swiss-Prot
      A8K702, D3DWJ9, P57764, Q96Q98
      UniProtKB/TrEMBL
      G3V1A6
      Related
      ENSP00000262580.4, ENST00000262580.9
      Conserved Domains (1) summary
      pfam04598
      Location:4456
      Gasdermin; Gasdermin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      143553387..143563062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187571.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      43427..53102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      144702722..144712453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)