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Aliases for GSDME Gene

Aliases for GSDME Gene

  • Gasdermin E 2 3
  • DFNA5, Deafness Associated Tumor Suppressor 2 3 5
  • DFNA5 3 4 5
  • Inversely Correlated With Estrogen Receptor Expression 1 3 4
  • ICERE-1 3 4
  • Inversely Correlated With Estrogen Receptor Expression 2
  • Non-Syndromic Hearing Impairment Protein 5 3
  • Nonsyndromic Hearing Impairment Protein 3
  • Deafness, Autosomal Dominant 5 2
  • 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 Dfna 5 Nonsyndromic Hearing Loss And 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, PubMed:21522185). The N-terminal moiety promotes pyroptosis and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).

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

Regulatory Elements for GSDME Gene

Enhancers for GSDME Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H024740 1.4 Ensembl ENCODE dbSUPER 31.8 +15.9 15884 3 TBP PKNOX1 ATF1 KLF17 BRCA1 ZEB1 RFX5 GLIS2 POLR3A ZNF366 GSDME OSBPL3 PIR41431
GH07H024753 1.5 FANTOM5 ENCODE dbSUPER 28.8 +1.9 1871 4 HDGF PKNOX1 FOXA2 SIN3A DMAP1 GLIS2 FOS ATF7 RUNX3 SP3 GSDME MPP6 C7orf31 PIR41431
GH07H024788 1 FANTOM5 ENCODE 31.3 -31.0 -31041 2 CTCF TAL1 HLF CEBPB ZMYM3 TCF12 CBX1 CBX5 ADNP TRIM24 GSDME C7orf31 SNRPCP19
GH07H024786 1.4 FANTOM5 Ensembl ENCODE 16.3 -28.9 -28927 1 JUN BACH1 MAX FOSL1 POLR2A ADNP FOS NFE2 MAFK NFE2L2 GSDME C7orf31 SNRPCP19
GH07H024732 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15 +24.6 24621 2 SAP130 MAFG BACH1 TGIF2 ZNF316 MAFF MBD1 NFE2 RUNX3 MAFK MPP6 GSDME PIR41431
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSDME on UCSC Golden Path with GeneCards custom track

Promoters for GSDME Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209593 713 1201 HDGF TBP TBL1XR1 ZNF76 SIN3A DMAP1 BATF ZSCAN9 GLIS2 SMARCC1

Genomic Location for GSDME Gene

Chromosome:
7
Start:
24,698,353 bp from pter
End:
24,758,113 bp from pter
Size:
59,761 bases
Orientation:
Minus strand

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-DFNA5_HUMAN
    Recommended name:
    Non-syndromic hearing impairment protein 5
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GSDME Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60443

UniProtKB/Swiss-Prot:

DFNA5_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.
  • 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.
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, PubMed:21522185). The N-terminal moiety promotes pyroptosis and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).

Phenotypes From GWAS Catalog for GSDME Gene

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:

Animal Model Products

CRISPR Products

miRNA for GSDME Gene

miRTarBase miRNAs that target GSDME

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSDME
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GSDME Gene

Localization for GSDME Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDME Gene

Cytoplasm, cytosol. Cell membrane.

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
cytosol 5
plasma membrane 3
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:0005829 cytosol IDA,IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
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:0008285 negative regulation of cell proliferation IDA 18223688
GO:0012501 programmed cell death IEA --
GO:0060113 inner ear receptor cell differentiation IEA --
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway IDA 21522185
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSDME
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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-DFNA5_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

Primer Products

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 16 33
  • 77.24 (n)
OneToOne
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 34 33
  • 48.21 (n)
OneToMany
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 Sequence Context AA Info Type
rs727505273 Pathogenic 24,706,389(-) TCTTC(-/TTC)CCTGC intron-variant
rs115865539 Likely benign 24,698,954(+) TTAAC(A/G)TGCAT utr-variant-3-prime
rs11970787 Likely benign 24,717,389(+) AAAGC(A/G)CACAC intron-variant
rs12540919 Likely benign 24,717,332(+) CACCA(C/T)GTTGG reference, missense
rs12979 Likely benign 24,698,545(-) TCCTA(A/C/G)AGTAT utr-variant-3-prime

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)

Relevant External Links 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, GeneTests, Orphanet, DISEASES, and GeneCards

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

UniProtKB/Swiss-Prot

DFNA5_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: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}.

Relevant External Links for GSDME

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSDME
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSDME
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 60
  2. The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. (PMID: 21522185) Op de Beeck K … Van Laer L (European journal of human genetics : EJHG 2011) 3 4 60
  3. Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. (PMID: 19911014) Park HJ … Kim UK (Journal of human genetics 2010) 3 22 60
  4. Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma. (PMID: 18223688) Kim MS … Sidransky D (Oncogene 2008) 3 4 60
  5. The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage. (PMID: 16897187) Masuda Y … Arakawa H (Journal of human genetics 2006) 3 4 60

Products for GSDME Gene

Sources for GSDME Gene

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