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Aliases for GSDME Gene

Aliases for GSDME Gene

  • Gasdermin E 2 3 5
  • Inversely Correlated With Estrogen Receptor Expression 1 3 4
  • DFNA5, Deafness Associated Tumor Suppressor 2 3
  • Non-Syndromic Hearing Impairment Protein 5 3 4
  • ICERE-1 3 4
  • DFNA5 3 4
  • Inversely Correlated With Estrogen Receptor Expression 2
  • Nonsyndromic Hearing Impairment Protein 3
  • Deafness, Autosomal Dominant 5 2
  • Gasdermin-E 3
  • ICERE1 4

External Ids for GSDME Gene

Previous HGNC Symbols for GSDME Gene

  • DFNA5

Summaries for GSDME Gene

Entrez Gene Summary for GSDME Gene

  • 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]

GeneCards Summary for GSDME Gene

GSDME (Gasdermin E) is a Protein Coding gene. Diseases associated with GSDME include Deafness, Autosomal Dominant 5 and Nonsyndromic Deafness. An important paralog of this gene is PJVK.

UniProtKB/Swiss-Prot for GSDME Gene

  • Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688).

  • Gasdermin-E, N-terminal: Switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:28459430, PubMed:27281216). Produced by the cleavage of GSDME by CASP3, perforates cell membrane and thereby induces pyroptosis. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216).

Gene Wiki entry for GSDME Gene

Additional gene information for GSDME Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSDME Gene

Genomics for GSDME Gene

GeneHancer (GH) Regulatory Elements for GSDME Gene

Promoters and enhancers for GSDME Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I024753 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 578.8 +1.9 1870 4.7 HDGF PKNOX1 FOXA2 SIN3A DMAP1 IRF4 ZNF48 GLIS2 ATF7 FOS GSDME MPP6 C7orf31 PIR41431
GH07I024740 Enhancer 1.3 Ensembl ENCODE dbSUPER 31.8 +15.9 15884 3.5 ATF1 PKNOX1 KLF17 BRCA1 RFX5 ZEB1 ZNF335 GLIS2 POLR3A ZNF366 GSDME OSBPL3 PIR41431
GH07I024788 Enhancer 0.9 FANTOM5 ENCODE 31.3 -31.0 -31040 2.3 CTCF HLF TAL1 CEBPB CBFA2T3 ZMYM3 TCF12 CBX1 CBX5 ADNP GSDME C7orf31 SNRPCP19
GH07I025123 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.6 -367.7 -367696 4.1 HDGF FOXA2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 CYCS GSDME OSBPL3 PIR56122 C7orf31
GH07I024786 Enhancer 1.2 FANTOM5 Ensembl ENCODE 16.3 -28.9 -28927 1.7 JUN MAX BACH1 FOSL1 POLR2A ADNP FOSL2 FOS NFE2 NFE2L2 GSDME C7orf31 SNRPCP19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GSDME on UCSC Golden Path with GeneCards custom track

Genomic Locations for GSDME Gene

Genomic Locations for GSDME Gene
chr7:24,698,353-24,758,113
(GRCh38/hg38)
Size:
59,761 bases
Orientation:
Minus strand
chr7:24,737,972-24,809,244
(GRCh37/hg19)

Genomic View for GSDME Gene

Genes around GSDME on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSDME Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSDME Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSDME Gene

Proteins for GSDME Gene

  • Protein details for GSDME Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60443-GSDME_HUMAN
    Recommended name:
    Gasdermin-E
    Protein Accession:
    O60443
    Secondary Accessions:
    • A4D156
    • B2RAX9
    • B3KT05
    • O14590
    • Q08AQ8
    • Q9UBV3

    Protein attributes for GSDME Gene

    Size:
    496 amino acids
    Molecular mass:
    54555 Da
    Quaternary structure:
    • The N-terminal moiety forms homooligomer; disulfide-linked. May form an 16-mer complex. Oligomerization occurs in the presence of membranes.
    SequenceCaution:
    • Sequence=AAB83938.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC39635.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for GSDME Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSDME Gene

Post-translational modifications for GSDME Gene

  • Cleavage at Asp-270 by CASP3 (mature and uncleaved precursor forms) relieves autoinhibition and is sufficient to initiate pyroptosis.

No data available for DME Specific Peptides for GSDME Gene

Domains & Families for GSDME Gene

Gene Families for GSDME Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for GSDME Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60443

UniProtKB/Swiss-Prot:

GSDME_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain, that is released upon cleavage by CASP3.
  • Belongs to the gasdermin family.
Domain:
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain, that is released upon cleavage by CASP3.
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with GSDME: view

Function for GSDME Gene

Molecular function for GSDME Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688).
UniProtKB/Swiss-Prot Function:
Gasdermin-E, N-terminal: Switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:28459430, PubMed:27281216). Produced by the cleavage of GSDME by CASP3, perforates cell membrane and thereby induces pyroptosis. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216).

Phenotypes From GWAS Catalog for GSDME Gene

Gene Ontology (GO) - Molecular Function for GSDME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 28459430
GO:1901612 cardiolipin binding IDA 28459430
genes like me logo Genes that share ontologies with GSDME: view
genes like me logo Genes that share phenotypes with GSDME: view

Human Phenotype Ontology for GSDME Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GSDME Gene

MGI Knock Outs for GSDME:

miRNA for GSDME Gene

miRTarBase miRNAs that target GSDME

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GSDME Gene

Localization for GSDME Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDME Gene

Gasdermin-E, N-terminal: Cell membrane.
Gasdermin-E: Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSDME gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GSDME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,IEA --
GO:0005886 plasma membrane IDA,IEA 28459430
GO:0016020 membrane IEA,IDA 28045099
genes like me logo Genes that share ontologies with GSDME: view

Pathways & Interactions for GSDME Gene

SuperPathways for GSDME Gene

No Data Available

Interacting Proteins for GSDME Gene

Gene Ontology (GO) - Biological Process for GSDME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound TAS 9771715
GO:0008219 cell death IMP 26236191
GO:0008285 negative regulation of cell proliferation IDA 18223688
GO:0012501 programmed cell death IEA --
GO:0043410 positive regulation of MAPK cascade IMP 26236191
genes like me logo Genes that share ontologies with GSDME: view

No data available for Pathways by source and SIGNOR curated interactions for GSDME Gene

Drugs & Compounds for GSDME Gene

No Compound Related Data Available

Transcripts for GSDME Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSDME Gene

No ASD Table

Relevant External Links for GSDME Gene

GeneLoc Exon Structure for
GSDME
ECgene alternative splicing isoforms for
GSDME

Expression for GSDME Gene

NURSA nuclear receptor signaling pathways regulating expression of GSDME Gene:

GSDME

mRNA Expression by UniProt/SwissProt for GSDME Gene:

O60443-GSDME_HUMAN
Tissue specificity: Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.

Evidence on tissue expression from TISSUES for GSDME Gene

  • Nervous system(4.9)
  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GSDME Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GSDME Gene

Orthologs for GSDME Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDME Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DFNA5 34 33
  • 98.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DFNA5 34 33
  • 83.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DFNA5 34 33
  • 82.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dfna5 34 33
  • 77.24 (n)
OneToOne
Gsdme 16
rat
(Rattus norvegicus)
Mammalia Dfna5 33
  • 74.81 (n)
oppossum
(Monodelphis domestica)
Mammalia DFNA5 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DFNA5 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves DFNA5 34 33
  • 59.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DFNA5 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dfna5 33
  • 53.56 (n)
zebrafish
(Danio rerio)
Actinopterygii dfna5 33 34
  • 48.21 (n)
DFNA5 (2 of 2) 34
  • 24 (a)
OneToMany
Species where no ortholog for GSDME was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GSDME Gene

ENSEMBL:
Gene Tree for GSDME (if available)
TreeFam:
Gene Tree for GSDME (if available)

Paralogs for GSDME Gene

Paralogs for GSDME Gene

genes like me logo Genes that share paralogs with GSDME: view

Variants for GSDME Gene

Sequence variations from dbSNP and Humsavar for GSDME Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs115865539 likely-benign, Nonsyndromic Hearing Loss, Mixed 24,698,954(-) G/A 3_prime_UTR_variant
rs117584512 uncertain-significance, Nonsyndromic Hearing Loss, Mixed 24,698,489(-) G/A 3_prime_UTR_variant
rs11970787 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Mixed 24,717,389(-) G/A intron_variant
rs12540919 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Mixed 24,717,332(-) C/T coding_sequence_variant, missense_variant
rs12979 likely-benign, Nonsyndromic Hearing Loss, Mixed 24,698,545(-) C/G/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for GSDME Gene

Variant ID Type Subtype PubMed ID
esv3612588 CNV loss 21293372
esv3891089 CNV loss 25118596
nsv507379 OTHER sequence alteration 20534489
nsv520276 CNV gain 19592680
nsv525284 CNV loss 19592680
nsv527599 CNV gain 19592680
nsv7393 OTHER inversion 18451855

Variation tolerance for GSDME Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSDME Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDME

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSDME Gene

Disorders for GSDME Gene

MalaCards: The human disease database

(11) MalaCards diseases for GSDME Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 5
  • dfna5
nonsyndromic deafness
  • nonsyndromic hearing loss
non-syndromic genetic deafness
  • isolated genetic deafness
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
sensorineural hearing loss
  • central hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search GSDME in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GSDME_HUMAN
  • Deafness, autosomal dominant, 5 (DFNA5) [MIM:600994]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:19911014, ECO:0000269 PubMed:24506266, ECO:0000269 PubMed:26236191, ECO:0000269 PubMed:9771715}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Is a tumor suppressor gene with an important role in colorectal cancer (CRC). {ECO:0000303 PubMed:18223688}.
genes like me logo Genes that share disorders with GSDME: view

No data available for Genatlas for GSDME Gene

Publications for GSDME Gene

  1. The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways. (PMID: 26236191) Van Rossom S … Van Camp G (Frontiers in cellular neuroscience 2015) 2 3 4 58
  2. Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. (PMID: 19911014) Park HJ … Kim UK (Journal of human genetics 2010) 3 4 22 58
  3. Cleavage of DFNA5 by caspase-3 during apoptosis mediates progression to secondary necrotic/pyroptotic cell death. (PMID: 28045099) Rogers C … Alnemri ES (Nature communications 2017) 3 4 58
  4. Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin. (PMID: 28459430) Wang Y … Shao F (Nature 2017) 3 4 58
  5. A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss. (PMID: 24506266) Nishio A … Kitamura K (Annals of human genetics 2014) 3 4 58

Products for GSDME Gene

Sources for GSDME Gene

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