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
- Enables volume-sensitive anion channel activity. Predicted to act upstream of or within monoatomic ion transport. Predicted to be located in plasma membrane. Is expressed in head; heart tube; otic vesicle; pectoral fin bud; and ventricular system. 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