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    GSDME gasdermin E [ Homo sapiens (human) ]

    Gene ID: 1687, updated on 19-May-2018
    Official Symbol
    GSDMEprovided by HGNC
    Official Full Name
    gasdermin Eprovided by HGNC
    Primary source
    HGNC:HGNC:2810
    See related
    Ensembl:ENSG00000105928 MIM:608798; Vega:OTTHUMG00000023237
    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
    DFNA5; ICERE-1
    Summary
    Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 18.9), small intestine (RPKM 11.1) and 19 other tissues See more
    Orthologs
    See GSDME in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (24698355..24762235, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (24737974..24797639, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1103, pseudogene Neighboring gene SUMO2 pseudogene 14 Neighboring gene membrane palmitoylated protein 6 Neighboring gene uncharacterized LOC107986779 Neighboring gene oxysterol binding protein like 3 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 19

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cardiolipin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inner ear receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    necrotic cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyroptosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sensory perception of sound TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    gasdermin-E
    Names
    DFNA5, deafness associated tumor suppressor
    inversely correlated with estrogen receptor expression 1
    non-syndromic hearing impairment protein 5
    nonsyndromic hearing impairment protein

    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.

    Genomic

    1. NG_011593.1 RefSeqGene

      Range
      5001..64666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127453.1NP_001120925.1  gasdermin-E isoform a

      See identical proteins and their annotated locations for NP_001120925.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AF131765, BC125065, DA820184
      Consensus CDS
      CCDS5389.1
      UniProtKB/Swiss-Prot
      O60443
      UniProtKB/TrEMBL
      A0A024RA58
      Related
      ENSP00000494186.1, OTTHUMP00000202025, ENST00000645220.1, OTTHUMT00000326887
      Conserved Domains (1) summary
      pfam04598
      Location:1468
      Gasdermin; Gasdermin family
    2. NM_001127454.1NP_001120926.1  gasdermin-E isoform b

      See identical proteins and their annotated locations for NP_001120926.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, resulting in an isoform (b) that uses a downstream start site compared to isoform a.
      Source sequence(s)
      AF131765, BC125065, BC125066, DA197867, DA908548
      Consensus CDS
      CCDS47563.1
      UniProtKB/Swiss-Prot
      O60443
      UniProtKB/TrEMBL
      A4FVA8
      Related
      ENSP00000401332.1, ENST00000419307.6
      Conserved Domains (1) summary
      pfam04598
      Location:1304
      Gasdermin; Gasdermin family
    3. NM_004403.2NP_004394.1  gasdermin-E isoform a

      See identical proteins and their annotated locations for NP_004394.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AC003093, AF073308, AF131765, BC125065
      Consensus CDS
      CCDS5389.1
      UniProtKB/Swiss-Prot
      O60443
      UniProtKB/TrEMBL
      A0A024RA58
      Related
      ENSP00000339587.3, OTTHUMP00000122464, ENST00000342947.8, OTTHUMT00000214060
      Conserved Domains (1) summary
      pfam04598
      Location:1468
      Gasdermin; Gasdermin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      24698355..24762235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446670.1XP_024302438.1  gasdermin-E isoform X1

      Conserved Domains (1) summary
      pfam04598
      Location:1468
      Gasdermin; Gasdermin family
    2. XM_017011802.1XP_016867291.1  gasdermin-E isoform X2

      UniProtKB/Swiss-Prot
      O60443
      Related
      ENSP00000387119.1, OTTHUMP00000202026, ENST00000409970.6, OTTHUMT00000326889
      Conserved Domains (1) summary
      pfam04598
      Location:1304
      Gasdermin; Gasdermin family
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