| Property |
Value |
| Gene Symbol |
LRRTM2 |
| Full Name |
Leucine-Rich Repeat Transmembrane Neuronal 2 |
| Chr Location |
5q31.1 |
| NCBI Gene ID |
25845 |
| OMIM ID |
610868 |
| Ensembl ID |
ENSG00000162881 |
| UniProt ID |
Q9H0Y5 |
| Encoded Protein |
LRRTM2 |
| Associated Diseases |
Autism spectrum disorder, intellectual disability, epilepsy |
LRRTM2 (Leucine-Rich Repeat Transmembrane Neuronal 2) is a synaptic adhesion molecule essential for excitatory synapse development and function. Located on chromosome 5q31.1, LRRTM2 is considered one of the most potent synaptogenic proteins in the LRRTM family. It binds to presynaptic neurexins and induces both pre- and postsynaptic differentiation, making it crucial for neural circuit assembly. Mutations in LRRTM2 have been linked to autism spectrum disorder, intellectual disability, and epilepsy.
LRRTM2 encodes leucine-rich repeat transmembrane neuronal 2, a synaptic adhesion molecule essential for excitatory synapse development and function. LRRTM2 is one of the most potent synaptogenic proteins in the LRRTM family.
Key normal physiological functions include:
- Excitatory synapse formation - Induces both pre- and postsynaptic differentiation
- Synaptic adhesion - Binds to presynaptic neurexins
- AMPA receptor trafficking - Regulates glutamatergic synapse function
- Synaptic plasticity - Involved in LTP and learning
- Neurotransmitter release - Modulates presynaptic function
- Circuit formation - Critical for neural circuit assembly
The protein structure:
- N-terminal signal peptide - Secretory pathway
- Leucine-rich repeats (LRR) - 10 LRR motifs for ligand binding
- Transmembrane domain - Single pass membrane protein
- C-terminal tail - Intracellular signaling interactions
- LRRTM2 mutations associated with ASD
- Synaptic dysfunction is core feature of ASD
- Animal models show social behavior deficits
- Rare variants cause non-syndromic intellectual disability
- Altered synaptic development
- LRRTM2 variants in epilepsy patients
- Excitatory/inhibitory balance disrupted
LRRTM2 is predominantly expressed in the brain:
- Highest expression: Cortex, hippocampus, basal ganglia
- Moderate expression: Cerebellum, thalamus
- Cellular localization: Postsynaptic densities
- Cell types: Excitatory neurons, interneurons
The Allen Brain Atlas shows high LRRTM2 expression in:
- Cortical pyramidal neurons (all layers)
- Hippocampal CA1-CA3 pyramidal cells
- Basal ganglia neurons
- Soler-Llavona et al., LRRTM2 and synaptogenesis (2010)
- Ko et al., LRRTM2-neurexin interaction (2011)
- Dickerson et al., LRRTM2 in ASD (2013)