Gene
pjvk
- ID
- ZDB-GENE-110411-133
- Name
- pejvakin
- Symbol
- pjvk Nomenclature History
- Previous Names
-
- dfnb59
- si:rp71-56k2.2
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 59. Orthologous to human PJVK (pejvakin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 recessive nonsyndromic deafness 59 | Alliance | Deafness, autosomal recessive 59 | 610220 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Gasdermin-E | Gasdermin, pore forming domain |
---|---|---|---|
UniProtKB:A0A8M9QAQ7
|
370 |
Interactions and Pathways
No data available
Plasmids
No data available