LRRC8D
Leucine Rich Repeat Containing 8 VRAC Subunit D
Gene Information Card
| Symbol | LRRC8D |
|---|---|
| Full Name | Leucine Rich Repeat Containing 8 VRAC Subunit D |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.2 |
| NCBI Gene ID | 55194 ncbi.nlm.nih.gov/gene/55194 |
| Ensembl ID | ENSG00000171462 |
| UniProt ID | Q8N2G4 |
| OMIM ID | 612889 |
| HGNC ID | 28619 |
| Aliases | LRRC8, FLJ23420 |
Description
LRRC8D is a component of the volume-regulated anion channel (VRAC) complex, which is essential for regulatory volume decrease in response to cell swelling. The gene encodes a leucine-rich repeat-containing protein that forms heteromeric channels with other LRRC8 family members. LRRC8D is involved in the transport of chloride ions and organic osmolytes, and plays a role in cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Agammaglobulinemia 5 (AGM5) | Loss-of-function mutations in LRRC8D impair VRAC activity, leading to defective B-cell development and antibody deficiency. | ClinVar, OMIM |
| Hepatocellular carcinoma | Altered LRRC8D expression may contribute to tumor cell volume regulation and proliferation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Liver | 6.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.4 | Moderate expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | Rare | Loss of function; associated with agammaglobulinemia |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Reduced VRAC activity; potential pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt VRAC channel assembly or ion conductance lead to loss of function, impairing regulatory volume decrease and B-cell development.
Gain of Function (GOF)
No gain-of-function mutations reported in LRRC8D.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by incorporating into VRAC complexes and impairing channel function.
View complete mutation data：
Gene Ontology (GO)
| • volume-sensitive anion channel activity | • chloride channel complex |
| • cellular response to osmotic stress | • regulation of cell volume |
| • plasma membrane |
Pathways
• Volume-regulated anion channel (VRAC) pathway
• Ion transport by P-type ATPases
Protein Summary
LRRC8D is a 803-amino acid protein with leucine-rich repeats and a transmembrane domain. It is a subunit of the VRAC heteromer, essential for chloride and organic osmolyte efflux during cell swelling. The protein localizes to the plasma membrane and is highly expressed in lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC8D Knockout HEK293 Cell Line | EDJ-KQ14114 | Human | 55144 | Details Get a Quote |
| LRRC8D Knockout A-549 Cell Line | EDJ-KQ44039 | Human | 55144 | Details Get a Quote |
| LRRC8D Knockout HeLa Cell Line | EDJ-KQ44040 | Human | 55144 | Details Get a Quote |
| LRRC8D Knockout HCT 116 Cell Line | EDJ-KQ42813 | Human | 55144 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
