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    GSDME gasdermin E [ Homo sapiens (human) ]

    Gene ID: 1687, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See GSDME in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (24698355..24795539, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (24836367..24933504, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. Chai Y, et al. Int J Pediatr Otorhinolaryngol, 2014 Aug. PMID 24933359
    2. Virus-mediated inactivation of anti-apoptotic Bcl-2 family members promotes Gasdermin-E-dependent pyroptosis in barrier epithelial cells. Orzalli MH, et al. Immunity, 2021 Jul 13. PMID 33979579, Free PMC Article
    3. GSDME: A Potential Ally in Cancer Detection and Treatment. Ibrahim J, et al. Trends Cancer, 2021 May. PMID 33422423
    4. GSDME and its role in cancer: From behind the scenes to the front of the stage. De Schutter E, et al. Int J Cancer, 2021 Jun 15. PMID 33186472
    5. Ultraviolet B induces proteolytic cleavage of the pyroptosis inducer gasdermin E in keratinocytes. Chen Y, et al. J Dermatol Sci, 2020 Nov. PMID 33004249

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Neutrophil Extracellular Traps Induce Pyroptosis of Rheumatoid Arthritis Fibroblast-Like Synoviocytes via the NF-kappaB/Caspase 3/GSDME Pathway.
      Title: Neutrophil Extracellular Traps Induce Pyroptosis of Rheumatoid Arthritis Fibroblast-Like Synoviocytes via the NF-κB/Caspase 3/GSDME Pathway.
    2. Insight into the structure, function and the tumor suppression effect of gasdermin E.
      Title: Insight into the structure, function and the tumor suppression effect of gasdermin E.
    3. Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.
      Title: Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.
    4. Gasdermin E promotes translocation of p65 and c-jun into nucleus in keratinocytes for progression of psoriatic skin inflammation.
      Title: Gasdermin E promotes translocation of p65 and c-jun into nucleus in keratinocytes for progression of psoriatic skin inflammation.
    5. AMIGO2 attenuates innate cisplatin sensitivity by suppression of GSDME-conferred pyroptosis in non-small cell lung cancer.
      Title: AMIGO2 attenuates innate cisplatin sensitivity by suppression of GSDME-conferred pyroptosis in non-small cell lung cancer.
    6. Gasdermin E regulates the stability and activation of EGFR in human non-small cell lung cancer cells.
      Title: Gasdermin E regulates the stability and activation of EGFR in human non-small cell lung cancer cells.
    7. DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR.
      Title: DFNA5 inhibits colorectal cancer proliferation by suppressing the mTORC1/2 signaling pathways via upregulation of DEPTOR.
    8. Expression levels of caspase-3 and gasdermin E and their involvement in the occurrence and prognosis of lung cancer.
      Title: Expression levels of caspase-3 and gasdermin E and their involvement in the occurrence and prognosis of lung cancer.
    9. Increased IRF9-STAT2 Signaling Leads to Adaptive Resistance toward Targeted Therapy in Melanoma by Restraining GSDME-Dependent Pyroptosis.
      Title: Increased IRF9-STAT2 Signaling Leads to Adaptive Resistance toward Targeted Therapy in Melanoma by Restraining GSDME-Dependent Pyroptosis.
    10. Zika virus causes placental pyroptosis and associated adverse fetal outcomes by activating GSDME.
      Title: Zika virus causes placental pyroptosis and associated adverse fetal outcomes by activating GSDME.
    Submit: New GeneRIF Correction See all GeneRIFs (66)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant nonsyndromic hearing loss 5
    MedGen: C1832932 OMIM: 600994 GeneReviews: Genetic Hearing Loss Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    Process Evidence Code Pubs
    involved_in cellular response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in granzyme-mediated programmed cell death signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of immune response to tumor cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pyroptotic cell death IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyroptotic inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

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    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)

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    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_001127453.2 → NP_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:1 → 468
      Gasdermin; Gasdermin family

    2. NM_001127454.2 → NP_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:1 → 304
      Gasdermin; Gasdermin family

    3. NM_004403.3 → NP_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:1 → 468
      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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_024446670.2 → XP_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:1 → 468
      Gasdermin; Gasdermin family

    2. XM_017011802.2 → XP_016867291.1  gasdermin-E isoform X2

      UniProtKB/Swiss-Prot
      O60443
      Related
      ENSP00000387119.1, ENST00000409970.6
      Conserved Domains (1) summary
      pfam04598
      Location:1 → 304
      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_054357398.1 → XP_054213373.1  gasdermin-E isoform X1

      UniProtKB/Swiss-Prot
      A4D156, B2RAX9, B3KT05, O14590, O60443, Q08AQ8, Q9UBV3

    2. XM_054357399.1 → XP_054213374.1  gasdermin-E isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60443.2 GenPept UniProtKB/Swiss-Prot:O60443

    Gene LinkOut

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

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