LRRC8E
Leucine Rich Repeat Containing 8 VRAC Subunit E
Gene Information Card
| Symbol | LRRC8E |
|---|---|
| Full Name | Leucine Rich Repeat Containing 8 VRAC Subunit E |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 80131 ncbi.nlm.nih.gov/gene/80131 |
| Ensembl ID | ENSG00000171017 |
| UniProt ID | Q6NSJ5 |
| OMIM ID | 612896 |
| HGNC ID | 18432 |
| Aliases | LRRC8, FLJ23420 |
Description
LRRC8E encodes a member of the leucine-rich repeat-containing 8 (LRRC8) family, which forms essential components of the volume-regulated anion channel (VRAC). VRAC is activated by cell swelling and mediates chloride and organic osmolyte efflux, playing a critical role in regulatory volume decrease. LRRC8E assembles with other LRRC8 subunits (A-D) to form heteromeric VRAC channels with distinct functional properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Agammaglobulinemia 5 (autosomal dominant) | LRRC8E mutations impair VRAC function, disrupting B-cell development and antibody production | ClinVar, OMIM |
| Hepatocellular carcinoma | Altered LRRC8E expression may contribute to tumor cell volume regulation and proliferation | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Spleen | 7.1 | Low |
| Bone marrow | 6.8 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in engineered lines |
| K562 | 6.5 | Moderate expression |
| HeLa | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Trp) | Missense | <0.01% | Impaired VRAC activity, associated with agammaglobulinemia |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt VRAC assembly or channel activity, leading to defective volume regulation and immune cell dysfunction.
Gain of Function (GOF)
Not reported in LRRC8E.
Dominant Negative (DN)
Some missense variants may interfere with heteromeric VRAC complex formation, reducing overall channel function.
View complete mutation data：
Gene Ontology (GO)
| • volume-sensitive anion channel activity | • chloride channel complex |
| • plasma membrane | • response to osmotic stress |
| • cell volume homeostasis |
Pathways
• Volume-regulated anion channel (VRAC) pathway
• Regulatory volume decrease
Protein Summary
LRRC8E is a 803-amino acid transmembrane protein with four N-terminal transmembrane domains and a C-terminal leucine-rich repeat domain. It is a mandatory subunit of VRAC, forming heterohexameric channels with LRRC8A. The protein is essential for chloride and organic osmolyte efflux during cell swelling, and its dysfunction is linked to primary immunodeficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC8E Knockout HEK293 Cell Line | EDJ-KQ9464 | Human | 80131 | Details Get a Quote |
| LRRC8E Knockout A-549 Cell Line | EDJ-KQ34919 | Human | 80131 | Details Get a Quote |
| LRRC8E Knockout HCT 116 Cell Line | EDJ-KQ36166 | Human | 80131 | Details Get a Quote |
| LRRC8E Knockout HeLa Cell Line | EDJ-KQ36167 | Human | 80131 | Details Get a Quote |
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