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GSDME gasdermin E [ Homo sapiens (human) ]

Gene ID: 1687, updated on 3-Apr-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Zika virus causes placental pyroptosis and associated adverse fetal outcomes by activating GSDME. Zhao Z, et al. Elife, 2022 Aug 16. PMID 35972780, Free PMC Article
  2. Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss. Jin Z, et al. Acta Otolaryngol, 2022 May. PMID 35640035
  3. Gasdermin E mediates resistance of pancreatic adenocarcinoma to enzymatic digestion through a YBX1-mucin pathway. Lv J, et al. Nat Cell Biol, 2022 Mar. PMID 35292781, Free PMC Article
  4. Apoptin induces pyroptosis of colorectal cancer cells via the GSDME-dependent pathway. Liu Z, et al. Int J Biol Sci, 2022. PMID 35002520, Free PMC Article
  5. Prognostic role of DFNA5 in head and neck squamous cell carcinoma revealed by systematic expression analysis. Liu Z, et al. BMC Cancer, 2021 Aug 25. PMID 34433433, Free PMC Article

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Autophagy promotes GSDME-mediated pyroptosis via intrinsic and extrinsic apoptotic pathways in cobalt chloride-induced hypoxia reoxygenation-acute kidney injury.
    Title: Autophagy promotes GSDME-mediated pyroptosis via intrinsic and extrinsic apoptotic pathways in cobalt chloride-induced hypoxia reoxygenation-acute kidney injury.
  9. Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.
    Title: Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.
  10. Gasdermin E is required for induction of pyroptosis and severe disease during enterovirus 71 infection.
    Title: Gasdermin E is required for induction of pyroptosis and severe disease during enterovirus 71 infection.
Submit: New GeneRIF Correction See all GeneRIFs (63)

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
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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 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 pyroptosis 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_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_024446670.2 → 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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