InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRRC8A

Summary

InnateDB Protein

IDBP-88773.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRRC8A

Protein Name

leucine rich repeat containing 8 family, member A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000361682

InnateDB Gene

IDBG-88771 (LRRC8A)

Protein Structure

UniProt Annotation

Function

Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. It is unclear whether LRRC8A constitutes a pore-forming subunit or whether it is closely associated with the pore and mediates channel properties such as ion selectivity. Involved in B-cell development: required for the pro-B cell to pre-B cell transition. Also required for T-cell development. {ECO:0000269PubMed:14660746, ECO:0000269PubMed:24725410, ECO:0000269PubMed:24790029}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:24725410, ECO:0000269PubMed:24782309, ECO:0000269PubMed:24790029}; Multi- pass membrane protein {ECO:0000269PubMed:24725410, ECO:0000269PubMed:24782309, ECO:0000269PubMed:24790029}.

Disease Associations

Agammaglobulinemia 5, autosomal dominant (AGM5) [MIM:613506]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269PubMed:14660746}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.

Tissue Specificity

Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells. {ECO:0000269PubMed:10718198, ECO:0000269PubMed:14660746}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.