GSDME Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GSDME |
| Official Name | gasdermin E [Source:HGNC Symbol;Acc:HGNC:2810] |
| Ensembl ID | ENSG00000105928 |
| Bio databases IDs | |
| Aliases | gasdermin E, inversely correlated with estrogen receptor expression |
| Synonyms | 2310037D07RIK, 4932441K13Rik, DFNA5, DFNA5H, EG14210, Fibroblast growth factor inducible 15, Fin15, gasdermin E, ICERE-1, LOC107986779 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GSDME often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- binding protein
- channel/pore class transporter
- phosphatidylinositol-4,5-bisphosphate binding
- Gasdermin PUB domain
- protein binding
- Gasdermin pore forming domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- familial nonsyndromic hearing impairment
- nonsyndromic hearing impairment
- acute myeloid leukemia
- major depression
- osteoarthritis
- autosomal dominant deafness type 5
- schizophrenia
- pancreatic ductal adenocarcinoma
- pancreatic epithelial cancer
role in cell
- formation
- expression in
- apoptosis
- differentiation
- proliferation
- damage
- cellular infiltration by
- cell death
- pyroptosis
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GSDME gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- transmembrane transport
- auditory receptor cell differentiation
- negative regulation of cell proliferation
- pyroptosis
- positive regulation of immune response to tumor cell
- cellular response to tumor necrosis factor
- positive regulation of MAPK cascade
- programmed cell death
- positive regulation of intrinsic apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- wide pore channel activity
- protein binding