LRRTM2 Gene (Leucine Rich Repeat Transmembrane Neuronal 2)
Key regulator of glutamatergic synapse formation and AMPA receptor trafficking
Gene Information Card
| Symbol | LRRTM2 |
|---|---|
| Full Name | Leucine rich repeat transmembrane neuronal 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 26045 ncbi.nlm.nih.gov/gene/26045 |
| Ensembl ID | ENSG00000146085 |
| UniProt ID | Q8N4C8 |
| OMIM ID | 610868 |
| HGNC ID | 19410 |
| Aliases | FLJ32096, KIAA0415, LRRGT00080 |
Description
LRRTM2 (Leucine Rich Repeat Transmembrane Neuronal 2) encodes a member of the leucine-rich repeat transmembrane (LRRTM) family. The protein is a postsynaptic adhesion molecule that localizes to excitatory synapses and promotes glutamatergic synapse formation. LRRTM2 binds to presynaptic neurexins (NRXN1, NRXN2, NRXN3) and regulates AMPA receptor (AMPAR) trafficking and synaptic transmission. It is essential for normal synaptic plasticity and cognitive function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered LRRTM2 expression may disrupt glutamatergic synapse formation and signaling, contributing to synaptic dysfunction in schizophrenia. | PMID: 21835307 |
| Autism spectrum disorder | LRRTM2 variants or dysregulation may impair neurexin-mediated synapse organization, linked to ASD pathophysiology. | PMID: 21835307 |
| Bipolar disorder | Potential involvement via synaptic adhesion and glutamate signaling pathways; expression changes observed in postmortem brain studies. | PMID: 21835307 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Hippocampus | 14.8 | High |
| Cerebellum | 10.1 | Medium |
| Testis | 3.2 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Moderate expression |
| SK-N-SH (neuroblastoma) | 6.4 | Moderate expression |
| HEK293 (embryonic kidney) | 0.8 | Low expression |
| HeLa (cervical carcinoma) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Unknown functional impact; rare variant reported in population databases |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Predicted benign; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in LRRTM2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in LRRTM2.
Dominant Negative (DN)
No dominant-negative mutations reported in LRRTM2.
View complete mutation data：
Gene Ontology (GO)
| • synapse assembly | • cell adhesion |
| • glutamatergic synapse formation | • AMPA receptor clustering |
| • neurexin binding | • postsynaptic membrane |
Pathways
• Neurexin-neuroligin signaling
• Glutamatergic synapse
• Synaptic adhesion molecules
Protein Summary
LRRTM2 is a 516-amino acid single-pass transmembrane protein with an N-terminal leucine-rich repeat (LRR) domain and a short cytoplasmic tail. The LRR domain mediates binding to presynaptic neurexins, inducing presynaptic differentiation and postsynaptic AMPA receptor recruitment. LRRTM2 is highly expressed in the brain, particularly in the cerebral cortex and hippocampus, and is critical for excitatory synapse maturation and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRTM2 Knockout HEK293 Cell Line | EDJ-KQ51161 | Human | 26045 | Details Get a Quote |
| LRRTM2 Knockout HeLa Cell Line | EDJ-KQ55873 | Human | 26045 | Details Get a Quote |
| LRRTM2 Knockout A-549 Cell Line | EDJ-KQ64363 | Human | 26045 | Details Get a Quote |
| LRRTM2 Knockout HCT 116 Cell Line | EDJ-KQ72813 | Human | 26045 | Details Get a Quote |
