LRRN3: Leucine Rich Repeat Neuronal 3
A neuronal leucine-rich repeat protein implicated in neurodevelopment and cancer
Gene Information Card
| Symbol | LRRN3 |
|---|---|
| Full Name | Leucine Rich Repeat Neuronal 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.1 |
| NCBI Gene ID | 54674 ncbi.nlm.nih.gov/gene/54674 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q9H3W5 |
| OMIM ID | 614678 |
| HGNC ID | 18308 |
| Aliases | NLRR3, FLJ21616 |
Description
LRRN3 (Leucine Rich Repeat Neuronal 3) encodes a member of the leucine-rich repeat (LRR) family of proteins, predominantly expressed in the nervous system. The protein contains LRR domains and an immunoglobulin-like domain, suggesting roles in cell adhesion, neurite outgrowth, and synaptic plasticity. LRRN3 is involved in neurodevelopment and has been implicated in various cancers, including neuroblastoma and glioblastoma, where altered expression may influence tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | LRRN3 overexpression is associated with poor prognosis; may promote cell proliferation and migration via LRR-mediated signaling | PMID: 25652308; COSMIC |
| Glioblastoma | Upregulated in glioblastoma tissues; potential role in tumor invasion and stemness | PMID: 28723891; COSMIC |
| Autism spectrum disorder | Rare copy number variants and expression changes in LRRN3 have been reported in ASD cohorts | PMID: 23403944; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Spinal cord | 6.1 | Low |
| Testis | 3.2 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; neuronal model |
| U87MG (glioblastoma) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Trp) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Predicted benign; no disease association |
| c.1870_1871insA (p.Thr624Asnfs*12) | Frameshift | <0.01% | Loss-of-function; observed in cancer cell lines (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr624Asnfs*12) predicted to truncate the protein, likely abolishing LRR and Ig domains.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in LRRN3.
Dominant Negative (DN)
No evidence for dominant-negative effects in LRRN3.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • nervous system development (GO:0007399) |
| • axon (GO:0030424) | • synapse (GO:0045202) |
| • protein binding (GO:0005515) |
Pathways
• Neuronal system (Reactome: R-HSA-112316)
• Cell adhesion molecules (KEGG: hsa04514)
Protein Summary
LRRN3 is a 710-amino acid transmembrane protein with 12 leucine-rich repeats (LRRs) flanked by cysteine-rich domains and a C-terminal immunoglobulin-like domain. It is localized to the plasma membrane and involved in homophilic and heterophilic cell adhesion. The protein is highly expressed in neurons, particularly during development, and modulates neurite outgrowth and synapse formation. Post-translational modifications include N-glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRN3 Knockout HEK293 Cell Line | EDJ-KQ11481 | Human | 54674 | Details Get a Quote |
| LRRN3 Knockout HeLa Cell Line | EDJ-KQ56456 | Human | 54674 | Details Get a Quote |
| LRRN3 Knockout A-549 Cell Line | EDJ-KQ64949 | Human | 54674 | Details Get a Quote |
| LRRN3 Knockout HCT 116 Cell Line | EDJ-KQ73392 | Human | 54674 | Details Get a Quote |
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