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 be involved in ion transport. Predicted to localize to integral component of membrane and plasma 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
Expression
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
All Phenotype Data
6 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With lrrc8aa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
agammaglobulinemia 5 Alliance ?Agammaglobulinemia 5 613506
Associated With lrrc8aa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR021040 LRRC8, pannexin-like TM region
Homologous_superfamily IPR032675 Leucine-rich repeat domain superfamily
Repeat IPR001611 Leucine-rich repeat
Repeat IPR003591 Leucine-rich repeat, typical subtype
Domain Details Per Protein
Protein Length Leucine-rich repeat Leucine-rich repeat domain superfamily Leucine-rich repeat, typical subtype LRRC8, pannexin-like TM region
UniProtKB:Q4V8W3 795
UniProtKB:E9QIH3 795
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations