Gene
gsdmeb
- ID
- ZDB-GENE-030131-7662
- Name
- gasdermin Eb
- Symbol
- gsdmeb Nomenclature History
- Previous Names
-
- dfna5
- dfna5b
- fk59f08
- wu:fc41e05
- wu:fk59f08
- zgc:91916 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Involved in inner ear morphogenesis and regulation of biosynthetic process. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 5 and sensorineural hearing loss. Is expressed in heart tube; intermediate cell mass of mesoderm; nervous system; neural crest; and otic vesicle. Orthologous to human GSDME (gasdermin E).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:91916 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 5 | Alliance | Deafness, autosomal dominant 5 | 600994 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Gasdermin-E | Gasdermin, pore forming domain | Gasdermin, PUB domain |
|---|---|---|---|---|
|
UniProtKB:Q6J2R6
|
472 | |||
|
UniProtKB:A0A8M6YSN6
|
281 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
gsdmeb-201
(1)
|
Ensembl | 2,369 nt | ||
| mRNA |
gsdmeb-202
(1)
|
Ensembl | 434 nt | ||
| mRNA |
gsdmeb-203
(1)
|
Ensembl | 1,977 nt |
Interactions and Pathways
No data available
Plasmids
No data available