Gene
lrrc8aa
- ID
- ZDB-GENE-030131-5853
- Name
- leucine rich repeat containing 8 VRAC subunit Aa
- Symbol
- lrrc8aa Nomenclature History
- Previous Names
-
- lrrc8a
- wu:fb18g12
- wu:fi21b10
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Exhibits volume-sensitive anion channel activity. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in agammaglobulinemia and agammaglobulinemia 5. Orthologous to human LRRC8A (leucine rich repeat containing 8 VRAC subunit A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| agammaglobulinemia 5 | Alliance | ?Agammaglobulinemia 5 | 613506 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Leucine-rich repeat | Leucine-rich repeat domain-containing protein | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype | LRRC8, pannexin-like TM region |
|---|---|---|---|---|---|---|
|
UniProtKB:Q4V8W3
|
795 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
lrrc8aa-201
(1)
|
Ensembl | 3,055 nt |
Interactions and Pathways
No data available
Plasmids
No data available