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GSDME |
Gene Facts External Data Attribution
- HGNC Symbol
- GSDME (HGNC:2810) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- gasdermin E
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNA5
- Alias symbols
- ICERE-1
- %HI
- 77.97(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.14(Read more about gnomAD LOEUF score)
- Cytoband
- 7p15.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:24737974-24797558 NCBI Ensembl UCSC GRCh38/hg38: chr7:24698355-24795539 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001127453.2 ENST00000645220.1 (Read more about MANE Select)
- Function
- [Gasdermin-E]: Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:33852854, PubMed:35594856). 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). {ECO:0000269|PubMed:27281216, ECO:0000269|PubMed:28459430, ECO:0000269|PubMed:33852854, ECO:0000269|PubMed:355... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20532
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)
