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] See more...

Aliases for GSDME Gene

Aliases for GSDME Gene

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

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 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna.

UniProtKB/Swiss-Prot Summary for GSDME Gene

  • [Gasdermin-E]: Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis (PubMed:27281216, PubMed:28459430). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-E, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:28459430).
  • [Gasdermin-E, N-terminal]: Pore-forming protein produced by cleavage by CASP3 or granzyme B (GZMB), which converts non-inflammatory apoptosis to pyroptosis or promotes granzyme-mediated pyroptosis, respectively (PubMed:27281216, PubMed:28459430, PubMed:32188940). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:28459430, PubMed:32188940). Binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Cleavage by CASP3 switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:32188940). 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). Cleavage by GZMB promotes tumor suppressor activity by triggering robust anti-tumor immunity (PubMed:21522185, PubMed:32188940). Suppresses tumors by mediating granzyme-mediated pyroptosis in target cells of natural killer (NK) cells: cleavage by granzyme B (GZMB), delivered to target cells from NK-cells, triggers pyroptosis of tumor cells and tumor suppression (PubMed:32188940, PubMed:31953257). May play a role in the p53/TP53-regulated cellular response to DNA damage (PubMed:16897187).

Gene Wiki entry for GSDME Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSDME Gene

Genomics for GSDME Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH07J024753 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 278.5 +6.0 5992 4.7 BCLAF1 ZNF600 JUND POLR2A BCL11A ZNF341 HOMEZ FOXA2 KLF9 SP2 GSDME HSALNG0056721 PALS2 C7orf31 piR-51855-037
GH07J024763 Enhancer 1.1 FANTOM5 Ensembl 264.2 -1.4 -1366 0.8 MYC REST HES1 BHLHE40 MNT ARNT NFATC3 NBN TAL1 ZNF316 GSDME lnc-GSDME-1 lnc-MPP6-2 ENSG00000287093 OSBPL3
GH07J024785 Promoter 0.3 EPDnew 250.4 -22.2 -22249 0.1 GSDME piR-61101-601 piR-61365-016 LOC107986779 ENSG00000287093 OSBPL3
GH07J024740 Enhancer 1.2 Ensembl ENCODE dbSUPER 43.7 +20.0 20006 3.5 ZNF600 JUND ATF2 BRCA1 REST CEBPB ZNF639 ZNF341 ZEB1 MAX GSDME OSBPL3 piR-51855-037 HSALNG0056721 PALS2
GH07J024788 Enhancer 0.9 FANTOM5 ENCODE 31.4 -26.9 -26918 2.3 CTCF TAL1 CBX1 TCF12 ZMYM3 ARID1B CEBPB HLF CBFA2T2 TRIM24 GSDME C7orf31 piR-61365-016 ENSG00000287093 LOC107986779 piR-61101-601 OSBPL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSDME on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSDME

Genomic Locations for GSDME Gene

Latest Assembly
chr7:24,698,355-24,762,235
(GRCh38/hg38)
Size:
63,881 bases
Orientation:
Minus strand

Previous Assembly
chr7:24,737,974-24,797,558
(GRCh37/hg19 by Entrez Gene)
Size:
59,585 bases
Orientation:
Minus strand

chr7:24,737,972-24,809,244
(GRCh37/hg19 by Ensembl)
Size:
71,273 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-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:
    • [Gasdermin-E, N-terminal]: Homooligomer; homooligomeric ring-shaped pore complex containing 27-28 subunits when inserted in the membrane.
    SequenceCaution:
    • Sequence=AAB83938.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC39635.2; Type=Erroneous initiation; Note=Truncated N-terminus.; 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) or granzyme B (GZMB) relieves autoinhibition and is sufficient to initiate pyroptosis.
  • [Gasdermin-E]: Succination by the Krebs cycle intermediate fumarate, which leads to S-(2-succinyl)cysteine residues, inhibits processing by caspases, and ability to initiate pyroptosis (PubMed:32820063). Succination modification is catalyzed by a non-enzymatic reaction caused by an accumulation of fumarate (PubMed:32820063).
  • 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
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for GSDME Gene

InterPro:
Blocks:
  • DFNA5 protein

Suggested Antigen Peptide Sequences for GSDME Gene

GenScript: Design optimal peptide antigens:
  • Deafness, autosomal dominant 5 (A4FTY0_HUMAN)
  • DFNA5 protein (A4FVA8_HUMAN)
  • cDNA FLJ37395 fis, clone BRAMY2027242, highly similar to Non-syndromic hearing impairment protein 5 (B3KT05_HUMAN)
  • Inversely correlated with estrogen receptor expression 1 (DFNA5_HUMAN)

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 or granzyme B (GZMB).
  • 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 or granzyme B (GZMB).
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:
[Gasdermin-E]: Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis (PubMed:27281216, PubMed:28459430). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-E, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:28459430).
UniProtKB/Swiss-Prot Function:
[Gasdermin-E, N-terminal]: Pore-forming protein produced by cleavage by CASP3 or granzyme B (GZMB), which converts non-inflammatory apoptosis to pyroptosis or promotes granzyme-mediated pyroptosis, respectively (PubMed:27281216, PubMed:28459430, PubMed:32188940). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:28459430, PubMed:32188940). Binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Cleavage by CASP3 switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:32188940). 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). Cleavage by GZMB promotes tumor suppressor activity by triggering robust anti-tumor immunity (PubMed:21522185, PubMed:32188940). Suppresses tumors by mediating granzyme-mediated pyroptosis in target cells of natural killer (NK) cells: cleavage by granzyme B (GZMB), delivered to target cells from NK-cells, triggers pyroptosis of tumor cells and tumor suppression (PubMed:32188940, PubMed:31953257). May play a role in the p53/TP53-regulated cellular response to DNA damage (PubMed:16897187).
UniProtKB/Swiss-Prot EnzymeRegulation:
[Gasdermin-E]: The full-length protein before cleavage is inactive: intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of activation signal (PubMed:28045099, PubMed:28459430). The intrinsic pyroptosis-inducing activity is carried by the released N-terminal moiety (Gasdermin-E, N-terminal) following cleavage by CASP3 or granzyme B (GZMB) (PubMed:28459430, PubMed:32188940, PubMed:31953257).

Phenotypes From GWAS Catalog for GSDME Gene

Gene Ontology (GO) - Molecular Function for GSDME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
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

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. Multi-pass membrane protein.
[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
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 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 IEA,IDA --
GO:0005886 plasma membrane IEA,IDA 28459430
GO:0016020 membrane IEA,IDA 28045099
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GSDME: view

Pathways & Interactions for GSDME Gene

PathCards logo

SuperPathways for GSDME Gene

No Data Available

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 IEA,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

mRNA/cDNA for GSDME Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for GSDME Gene

GeneLoc Exon Structure for
GSDME

Expression for GSDME Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSDME

mRNA Expression by UniProt/SwissProt for GSDME Gene:

O60443-GSDME_HUMAN
Tissue specificity: Expressed in cochlea (PubMed:9771715). Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta (PubMed:9771715).

Evidence on tissue expression from TISSUES for GSDME Gene

  • Nervous system(4.9)
  • Lung(2.7)
  • Blood(2.6)
  • Kidney(2.6)
  • Heart(2.2)
  • Liver(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Regions:
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 for research

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 29 30
  • 98.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DFNA5 29 30
  • 83.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DFNA5 29 30
  • 82.56 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dfna5 29 30
  • 77.24 (n)
OneToOne
Gsdme 16
Rat
(Rattus norvegicus)
Mammalia Dfna5 29
  • 74.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia DFNA5 30
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DFNA5 30
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DFNA5 29 30
  • 59.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DFNA5 30
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dfna5 29
  • 53.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii dfna5 29 30
  • 48.21 (n)
OneToMany
DFNA5 (2 of 2) 30
  • 24 (a)
OneToMany
Species where no ortholog for GSDME was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GSDME: view image
Alliance of Genome Resources:
Additional Orthologs for GSDME

Paralogs for GSDME Gene

No data available for Paralogs for GSDME Gene

Variants for GSDME Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSDME Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1030791 Likely Pathogenic: Deafness, autosomal dominant 5 24,744,755(-) C/T
NM_001127453.2(GSDME):c.212-1G>A
SPLICE_ACCEPTOR
804739 Benign: not provided 24,702,817(-) TG/CA
NM_001127453.2(GSDME):c.1199_1200inv (p.Ala400Val)
MISSENSE
872215 Uncertain Significance: not provided 24,710,353(-) C/T
NM_001127453.2(GSDME):c.733G>A (p.Glu245Lys)
MISSENSE
908334 Uncertain Significance: Deafness, autosomal dominant 5 24,698,727(-) T/C
NM_001127453.2(GSDME):c.*299A>G
THREE_PRIME_UTR
908335 Uncertain Significance: Deafness, autosomal dominant 5 24,698,787(-) A/G
NM_001127453.2(GSDME):c.*239T>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GSDME Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Human Gene Mutation Database (HGMD)
GSDME
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDME
Leiden Open Variation Database (LOVD)
GSDME

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

Disorders for GSDME Gene

MalaCards: The human disease database

(29) MalaCards diseases for GSDME Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal dominant 5
  • dfna5
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
rare genetic deafness
  • rare genetic hearing loss
deafness, autosomal dominant 28
  • dfna28
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 variants 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}.

Additional Disease Information for 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. 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 72
  2. 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
  3. 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 72
  4. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. (PMID: 14676472) Bischoff AM … Kremer H (Audiology & neuro-otology 2004) 3 22 72
  5. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. (PMID: 14559215) Yu C … Kong X (Genomics 2003) 3 22 72

Products for GSDME Gene

Sources for GSDME Gene