LRRC8D

Leucine-rich repeat-containing protein 8D is a protein that in humans is encoded by the LRRC8D gene.^[5] Researchers have found out that this protein, along with the other LRRC8 proteins LRRC8A, LRRC8B, LRRC8C, and LRRC8E, is a subunit of the heteromer protein Volume-Regulated Anion Channel.^[6] Volume-Regulated Anion Channels (VRACs) are crucial to the regulation of cell size by transporting chloride ions and various organic osmolytes, such as taurine or glutamate, across the plasma membrane,^[7] and that is not the only function these channels have been linked to.

LRRC8D
Identifiers
Aliases	LRRC8D, LRRC5, leucine-rich repeat containing 8 family member D, leucine rich repeat containing 8 family member D, leucine rich repeat containing 8 VRAC subunit D, HsLRRC8D
External IDs	OMIM: 612890; MGI: 1922368; HomoloGene: 10004; GeneCards: LRRC8D; OMA:LRRC8D - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p22.2 Start 89,821,014 bp[1] End 89,936,611 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 E5 Start 105,847,835 bp[2] End 105,980,302 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve subthalamic nucleus trigeminal ganglion external globus pallidus Medulla Oblongata superior vestibular nucleus corpus callosum ventral tegmental area gingival epithelium Region I of hippocampus proper Top expressed in otolith organ utricle superior cervical ganglion stria vascularis medullary collecting duct trigeminal ganglion Rostral migratory stream median eminence cumulus cell vestibular sensory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding volume-sensitive anion channel activity Cellular component cytoplasm integral component of membrane integral component of plasma membrane endoplasmic reticulum membrane membrane endoplasmic reticulum ion channel complex plasma membrane Biological process anion transmembrane transport ion transport regulation of anion transport signal transduction transmembrane transport transport cell volume homeostasis inorganic anion transport taurine transport aspartate transmembrane transport cellular response to osmotic stress Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55144 231549 Ensembl ENSG00000171492 ENSMUSG00000046079 UniProt Q7L1W4 Q8BGR2 RefSeq (mRNA) NM_001134479 NM_018103 NM_001122768 NM_178701 RefSeq (protein) NP_001127951 NP_060573 NP_001116240 NP_848816 Location (UCSC) Chr 1: 89.82 – 89.94 Mb Chr 5: 105.85 – 105.98 Mb PubMed search [3] [4]
Wikidata
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While LRRC8D is one of many proteins that can be part of VRAC, it is in fact one of the most important subunits for the channel’s ability to function; the other protein of importance is LRRC8A.^[8][9] However, while we know it is necessary for specific VRAC function, other studies have found that it is not sufficient for the full range of usual VRAC activity.^[10] This is where the other LRRC8 proteins come in, as the different composition of these subunits affects the range of specificity for VRACs.^[11][12]

In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5.^[13]