LRRC8B
Leucine Rich Repeat Containing 8 VRAC Subunit B
Gene Information Card
| Symbol | LRRC8B |
|---|---|
| Full Name | Leucine Rich Repeat Containing 8 VRAC Subunit B |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.2 |
| NCBI Gene ID | 23507 ncbi.nlm.nih.gov/gene/23507 |
| Ensembl ID | ENSG00000197147 |
| UniProt ID | Q6NSJ5 |
| OMIM ID | 612896 |
| HGNC ID | 18489 |
| Aliases | LRRC8, FLJ13154 |
Description
LRRC8B encodes a member of the leucine-rich repeat-containing 8 (LRRC8) family of proteins. These proteins are essential components of the volume-regulated anion channel (VRAC), which plays a critical role in cell volume regulation, ion homeostasis, and signaling. LRRC8B is widely expressed and contributes to the formation of heteromeric VRAC complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Agammaglobulinemia (possible) | LRRC8B mutations may impair VRAC function, affecting B-cell development | Limited; inferred from LRRC8A defects |
| Cancer (various) | Altered VRAC activity influences cell volume and proliferation | COSMIC somatic mutations reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| K562 | 9.8 | Moderate |
| HeLa | 7.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | missense | 0.005% (gnomAD) | Possibly damaging (in silico) |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to reduce VRAC activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Possible if mutant subunit disrupts heteromeric channel assembly
View complete mutation data：
Gene Ontology (GO)
| • volume-sensitive anion channel activity | • ion transmembrane transport |
| • plasma membrane | • response to osmotic stress |
Pathways
• Volume-regulated anion channel (VRAC) pathway
• Ion transport by P-type ATPases
Protein Summary
LRRC8B is a 803-amino acid protein with four transmembrane domains and multiple leucine-rich repeats in the cytoplasmic C-terminus. It assembles with other LRRC8 subunits to form functional VRAC channels, mediating chloride and organic osmolyte efflux upon cell swelling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC8B Knockout HEK293 Cell Line | EDJ-KQ8036 | Human | 23507 | Details Get a Quote |
| LRRC8B Knockout A-549 Cell Line | EDJ-KQ33826 | Human | 23507 | Details Get a Quote |
| LRRC8B Knockout HCT 116 Cell Line | EDJ-KQ33827 | Human | 23507 | Details Get a Quote |
| LRRC8B Knockout HeLa Cell Line | EDJ-KQ33828 | Human | 23507 | Details Get a Quote |
