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 be involved in several processes, including aspartate transmembrane transport; cyclic-GMP-AMP transmembrane import across plasma membrane; and monoatomic anion transmembrane transport. Predicted to act upstream of or within monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in cytoplasm and 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