======= DFNA5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GSDME
  * **<color #00a2e8>Official Name</color>**: gasdermin E
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1687|1687]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O60443|O60443]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=DFNA5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20DFNA5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608798|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688). {ECO:0000269|PubMed:16897187, ECO:0000269|PubMed:18223688}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Gasdermin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cardiolipin binding|
|pyroptosis|
|necrotic cell death|
|cellular response to virus|
|inner ear receptor cell differentiation|
|mechanoreceptor differentiation|
|positive regulation of intrinsic apoptotic signaling pathway|
|phosphatidylinositol-4,5-bisphosphate binding|
|sensory perception of sound|
|regulation of intrinsic apoptotic signaling pathway|
|sensory perception of mechanical stimulus|
|positive regulation of apoptotic signaling pathway|
|inner ear development|
|ear development|
|cellular response to tumor necrosis factor|
|response to tumor necrosis factor|
|response to virus|
|regulation of apoptotic signaling pathway|
|positive regulation of MAPK cascade|
|sensory organ development|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|negative regulation of cell population proliferation|
|positive regulation of cell death|
|regulation of MAPK cascade|
|sensory perception|
|cellular response to cytokine stimulus|
|neuron differentiation|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|programmed cell death|
|positive regulation of phosphorylation|
|cell death|
|response to cytokine|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of protein modification process|
|response to other organism|
|response to external biotic stimulus|
|response to biotic stimulus|
|nervous system process|
|regulation of protein phosphorylation|
|generation of neurons|
|regulation of apoptotic process|
|regulation of programmed cell death|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|neurogenesis|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|system process|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp93|DABN racemic mixture R03 exp93]]|1.96|
|[[:results:exp64|Nocodazole 0.2μM R02 exp64]]|2.03|
|[[:results:exp24|Nocodazole 0.2μM R00 exp24]]|2.33|
|[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|2.64|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|3.18|
|[[:results:exp94|Nocodazole 0.1μM R03 exp94]]|3.59|
|[[:results:exp33|Rotenone 2μM R00 exp33]]|3.63|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 7097
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.25 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='DFNA5 Expression in NALM6 Cells: 2.25'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>