Version 5.4
Homo sapiens Gene: LRRC8A
Summary
InnateDB Gene IDBG-88771.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LRRC8A
Gene Name leucine rich repeat containing 8 family, member A
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000136802
Encoded Proteins
IDBP-88773
leucine rich repeat containing 8 family, member A
IDBP-88775
leucine rich repeat containing 8 family, member A
IDBP-88777
leucine rich repeat containing 8 family, member A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:128882112-128918039
Strand Forward strand
Band q34.11
Transcripts
ENST00000372600 ENSP00000361682
ENST00000372599 ENSP00000361680
ENST00000259324 ENSP00000259324
ENST00000483638
ENST00000492784
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005253 anion channel activity
GO:0005515 protein binding
Biological Process
GO:0002329 pre-B cell differentiation
GO:0006820 anion transport
GO:0006884 cell volume homeostasis
GO:0006970 response to osmotic stress
Cellular Component
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0034702 ion channel complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000007476
View Gene Order
ENSBTAG00000013030
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.643600
RefSeq NM_001127244 NM_001127245 NM_019594 XM_005252095 XM_005252096 XM_006717186
HUGO
OMIM
CCDS CCDS35155
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca