LRRC4B
Leucine Rich Repeat Containing 4B
Gene Information Card
| Symbol | LRRC4B |
|---|---|
| Full Name | leucine rich repeat containing 4B |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 94030 ncbi.nlm.nih.gov/gene/94030 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q9NT99 |
| OMIM ID | 612624 |
| HGNC ID | 25111 |
| Aliases | LRRC4, LRR4B, NGL-3 |
Description
LRRC4B (leucine rich repeat containing 4B) is a protein-coding gene located on chromosome 19q13.42. It encodes a member of the leucine-rich repeat (LRR) superfamily, which is involved in cell adhesion, neuronal development, and synaptic organization. The protein is also known as NGL-3 (netrin-G ligand-3) and functions as a postsynaptic adhesion molecule.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic adhesion and signaling; LRRC4B variants may affect glutamatergic synapse function. | Association study (PMID: 21743477) |
| Autism spectrum disorder | Disruption of LRRC4B-mediated synaptic adhesion may contribute to neurodevelopmental phenotypes. | Rare variant analysis (PMID: 25217958) |
| Intellectual disability | Loss-of-function mutations in LRRC4B impair synaptic plasticity and cognitive function. | Case report (PMID: 26917586) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Heart | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U87 (glioblastoma) | 6.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <0.01% | Loss of function; associated with intellectual disability |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Altered protein stability; reported in autism |
| c.782_783del (p.Leu261fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature truncation or nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • synaptic organization |
| • protein binding | • leucine-rich repeat domain binding |
| • postsynaptic membrane |
Pathways
• Netrin-G signaling pathway
• Synaptic adhesion molecules
Protein Summary
The LRRC4B protein (NGL-3) is a transmembrane leucine-rich repeat protein that localizes to postsynaptic sites. It interacts with netrin-G ligands to regulate excitatory synapse formation and maintenance. The protein contains an extracellular LRR domain, a transmembrane region, and a cytoplasmic tail that mediates signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC4B Knockout HEK293 Cell Line | EDJ-KQ11271 | Human | 94030 | Details Get a Quote |
| LRRC4B Knockout HeLa Cell Line | EDJ-KQ57877 | Human | 94030 | Details Get a Quote |
| LRRC4B Knockout A-549 Cell Line | EDJ-KQ66373 | Human | 94030 | Details Get a Quote |
| LRRC4B Knockout HCT 116 Cell Line | EDJ-KQ74796 | Human | 94030 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
