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    GSDME gasdermin E [ Homo sapiens (human) ]

    Gene ID: 1687, updated on 17-Jun-2024

    Summary

    Official Symbol
    GSDMEprovided by HGNC
    Official Full Name
    gasdermin Eprovided by HGNC
    Primary source
    HGNC:HGNC:2810
    See related
    Ensembl:ENSG00000105928 MIM:608798; AllianceGenome:HGNC:2810
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GSDME in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (24698355..24795539, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (24836367..24933504, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (24737974..24797558, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1103, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25743 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:24613275-24613774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25746 Neighboring gene NANOG hESC enhancer GRCh37_chr7:24615771-24616272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25748 Neighboring gene SUMO2 pseudogene 14 Neighboring gene protein associated with LIN7 2, MAGUK p55 family member Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:24725223-24725819 Neighboring gene Sharpr-MPRA regulatory region 3197 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:24744538-24744707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:24757299-24757886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:24764003-24764686 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:24765371-24766054 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:24766055-24766736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25753 Neighboring gene Sharpr-MPRA regulatory region 13058 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18020 Neighboring gene Sharpr-MPRA regulatory region 12520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25755 Neighboring gene MPRA-validated peak6442 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:24834361-24834866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:24834867-24835372 Neighboring gene NANOG hESC enhancer GRCh37_chr7:24841903-24842404 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:24865671-24866870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25758 Neighboring gene oxysterol binding protein like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25760 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:24990225-24990724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:25010975-25011630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25068437-25068938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25098668-25099168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:25163804-25164348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:25164349-25164892 Neighboring gene cytochrome c, somatic

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cardiolipin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables wide pore channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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.

    Genomic

    1. NG_011593.1 RefSeqGene

      Range
      5557..64666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1428

    mRNA and Protein(s)

    1. NM_001127453.2NP_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
      A4D156, B2RAX9, B3KT05, O14590, O60443, Q08AQ8, Q9UBV3
      UniProtKB/TrEMBL
      A4FTY0, A8K410
      Related
      ENSP00000494186.1, ENST00000645220.1
      Conserved Domains (1) summary
      pfam04598
      Location:1468
      Gasdermin; Gasdermin family
    2. NM_001127454.2NP_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_004403.3NP_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
      A4D156, B2RAX9, B3KT05, O14590, O60443, Q08AQ8, Q9UBV3
      UniProtKB/TrEMBL
      A4FTY0, A8K410
      Related
      ENSP00000339587.3, ENST00000342947.9
      Conserved Domains (1) summary
      pfam04598
      Location:1468
      Gasdermin; Gasdermin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      24698355..24795539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446670.2XP_024302438.1  gasdermin-E isoform X1

      UniProtKB/Swiss-Prot
      A4D156, B2RAX9, B3KT05, O14590, O60443, Q08AQ8, Q9UBV3
      UniProtKB/TrEMBL
      A4FTY0, A8K410
      Conserved Domains (1) summary
      pfam04598
      Location:1468
      Gasdermin; Gasdermin family
    2. XM_017011802.2XP_016867291.1  gasdermin-E isoform X2

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      24836367..24933504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357398.1XP_054213373.1  gasdermin-E isoform X1

      UniProtKB/Swiss-Prot
      A4D156, B2RAX9, B3KT05, O14590, O60443, Q08AQ8, Q9UBV3
      UniProtKB/TrEMBL
      A4FTY0, A8K410
    2. XM_054357399.1XP_054213374.1  gasdermin-E isoform X2