Human Gene GSDME (ENST00000342947.9_7) from GENCODE V47lift37
  Description: gasdermin E, transcript variant 1 (from RefSeq NM_004403.3)
Gencode Transcript: ENST00000342947.9_7
Gencode Gene: ENSG00000105928.16_15
Transcript (Including UTRs)
   Position: hg19 chr7:24,737,974-24,797,558 Size: 59,585 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr7:24,738,645-24,789,393 Size: 50,749 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:24,737,974-24,797,558)mRNA (may differ from genome)Protein (496 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DFNA5_HUMAN
DESCRIPTION: RecName: Full=Non-syndromic hearing impairment protein 5; AltName: Full=Inversely correlated with estrogen receptor expression 1; Short=ICERE-1;
FUNCTION: Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.
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.
DISEASE: Defects in DFNA5 are the cause of deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of 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.
DISEASE: Note=Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer.
SIMILARITY: Belongs to the gasdermin family.
SEQUENCE CAUTION: Sequence=AAB83938.1; Type=Erroneous gene model prediction; Sequence=AAC39635.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GSDME
Diseases sorted by gene-association score: deafness, autosomal dominant 5* (919), dfna 5 nonsyndromic hearing loss and deafness* (100), nonsyndromic deafness* (99), nonsyndromic hearing loss and deafness* (97), autosomal dominant non-syndromic sensorineural deafness type dfna* (64), sensorineural hearing loss (5), deafness, autosomal dominant 21 (3), deafness, autosomal dominant 17 (2), autosomal dominant nonsyndromic deafness 20 (2), autosomal dominant nonsyndromic deafness 6 (1), deafness, autosomal dominant 13 (1)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 248.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -103.60252-0.411 Picture PostScript Text
3' UTR -159.30671-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007677 - Gasdermin

Pfam Domains:
PF04598 - Gasdermin pore forming domain
PF17708 - Gasdermin PUB domain

ModBase Predicted Comparative 3D Structure on O60443
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:1901612 cardiolipin binding

Biological Process:
GO:0007605 sensory perception of sound
GO:0008219 cell death
GO:0008285 negative regulation of cell proliferation
GO:0012501 programmed cell death
GO:0043410 positive regulation of MAPK cascade
GO:0060113 inner ear receptor cell differentiation
GO:0070265 necrotic cell death
GO:0070269 pyroptosis
GO:0071356 cellular response to tumor necrosis factor
GO:0098586 cellular response to virus
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC019689 - Homo sapiens deafness, autosomal dominant 5, mRNA (cDNA clone IMAGE:4412963), partial cds.
AF073308 - Homo sapiens nonsyndromic hearing impairment protein (DFNA5) mRNA, complete cds.
AF007790 - Homo sapiens ICERE-1 mRNA, complete cds.
AK094714 - Homo sapiens cDNA FLJ37395 fis, clone BRAMY2027242, highly similar to Non-syndromic hearing impairment protein 5.
BC099911 - Homo sapiens deafness, autosomal dominant 5, mRNA (cDNA clone MGC:104642 IMAGE:5287362), complete cds.
BC125065 - Homo sapiens deafness, autosomal dominant 5, mRNA (cDNA clone MGC:149675 IMAGE:40117291), complete cds.
BC125066 - Homo sapiens deafness, autosomal dominant 5, mRNA (cDNA clone IMAGE:40117292), partial cds.
AK290775 - Homo sapiens cDNA FLJ78210 complete cds, highly similar to Homo sapiens nonsyndromic hearing impairment protein (DFNA5) mRNA.
AK314402 - Homo sapiens cDNA, FLJ95179, Homo sapiens deafness, autosomal dominant 5 (DFNA5), mRNA.
KJ891046 - Synthetic construct Homo sapiens clone ccsbBroadEn_00440 DFNA5 gene, encodes complete protein.
KJ896702 - Synthetic construct Homo sapiens clone ccsbBroadEn_06096 DFNA5 gene, encodes complete protein.
AJ270686 - Homo sapiens partial unknown mRNA from drug-resistant melanoma cells, 3'UTR, clone DSM-2.
AF131765 - Homo sapiens clone 24833 nonsyndromic hearing impairment protein mRNA sequence, complete cds.
AF075171 - Homo sapiens nonsyndromic hearing impairment protein (DFNA5) mRNA, short form, complete cds.
BX647389 - Homo sapiens mRNA; cDNA DKFZp686G03144 (from clone DKFZp686G03144).
JD049077 - Sequence 30101 from Patent EP1572962.
JD370904 - Sequence 351928 from Patent EP1572962.
JD439436 - Sequence 420460 from Patent EP1572962.
JD563543 - Sequence 544567 from Patent EP1572962.
KJ901381 - Synthetic construct Homo sapiens clone ccsbBroadEn_10775 DFNA5 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D156, B2RAX9, B3KT05, DFNA5 , ENST00000342947.1, ENST00000342947.2, ENST00000342947.3, ENST00000342947.4, ENST00000342947.5, ENST00000342947.6, ENST00000342947.7, ENST00000342947.8, GSDME , GSDME_HUMAN, ICERE1 , NM_004403, O14590, O60443, Q08AQ8, Q9UBV3, uc317wms.1, uc317wms.2
UCSC ID: ENST00000342947.9_7
RefSeq Accession: NM_004403.3
Protein: O60443 (aka DFNA5_HUMAN or DFN5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GSDME:
deafness-overview (Genetic Hearing Loss Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.