LRRC4C
Leucine Rich Repeat Containing 4C
Gene Information Card
| Symbol | LRRC4C |
|---|---|
| Full Name | Leucine Rich Repeat Containing 4C |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 57689 ncbi.nlm.nih.gov/gene/57689 |
| Ensembl ID | ENSG00000148948 |
| UniProt ID | Q9HCJ2 |
| OMIM ID | 608817 |
| HGNC ID | 21319 |
| Aliases | NGL-1, KIAA1580, FLJ38944 |
Description
LRRC4C (leucine rich repeat containing 4C) encodes a member of the netrin-G ligand (NGL) family of synaptic adhesion molecules. The protein contains leucine-rich repeats (LRRs) and an immunoglobulin-like domain, and functions as a ligand for netrin-G1 (NTNG1) and netrin-G2 (NTNG2). LRRC4C is involved in axon guidance, synapse formation, and neuronal connectivity. It is predominantly expressed in the brain and plays a role in the development of excitatory synapses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic adhesion and neuronal connectivity; LRRC4C variants may affect glutamatergic synapse function. | PMID: 22543974 |
| Autism spectrum disorder | Disruption of LRRC4C-mediated synaptic adhesion pathways implicated in ASD. | PMID: 22495306 |
| Intellectual disability | Rare LRRC4C mutations associated with cognitive impairment. | PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 1.2 | Low |
| Heart | 0.8 | Low |
| Liver | 0.3 | Not detected |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.9 | Neuronal cell line |
| U-87 MG | 2.1 | Glioblastoma cell line |
| HEK293 | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Altered ligand binding; reported in schizophrenia cohort |
| c.567delG (p.Glu189fs) | Frameshift | Rare | Loss of function; associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt LRR domains lead to loss of adhesion function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic membrane adhesion | • axon guidance |
| • cell-cell adhesion | • protein binding |
| • leucine-rich repeat domain binding |
Pathways
• Netrin-G signaling pathway
• Synaptic adhesion molecules
Protein Summary
LRRC4C (NGL-1) is a 640-amino acid transmembrane protein with an N-terminal signal peptide, nine leucine-rich repeats, a C-terminal immunoglobulin-like domain, and a short cytoplasmic tail. It localizes to postsynaptic membranes and binds netrin-G1 (NTNG1) and netrin-G2 (NTNG2) to promote excitatory synapse formation. The protein is highly expressed in the central nervous system, particularly in the hippocampus and cortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC4C Knockout HEK293 Cell Line | EDJ-KQ14112 | Human | 57689 | Details Get a Quote |
| LRRC4C Knockout HeLa Cell Line | EDJ-KQ56898 | Human | 57689 | Details Get a Quote |
| LRRC4C Knockout A-549 Cell Line | EDJ-KQ65410 | Human | 57689 | Details Get a Quote |
| LRRC4C Knockout HCT 116 Cell Line | EDJ-KQ73846 | Human | 57689 | Details Get a Quote |
