NRXN2: Neurexin 2 Gene
Key synaptic adhesion molecule implicated in neurodevelopmental disorders
Gene Information Card
| Symbol | NRXN2 |
|---|---|
| Full Name | Neurexin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 9379 ncbi.nlm.nih.gov/gene/9379 |
| Ensembl ID | ENSG00000110076 |
| UniProt ID | Q9P2S2 |
| OMIM ID | 600565 |
| HGNC ID | 8009 |
| Aliases | neurexin II, neurexin-2-beta, NRXN2A, NRXN2B |
Description
NRXN2 encodes neurexin 2, a member of the neurexin family of presynaptic cell adhesion molecules. Neurexins bind to postsynaptic neuroligins to form trans-synaptic complexes essential for synaptic function and plasticity. Alternative splicing generates multiple isoforms, including alpha- and beta-neurexins. NRXN2 is highly expressed in the brain and is implicated in neurodevelopmental and psychiatric disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of neurexin-neuroligin signaling alters synaptic balance | PMID: 18621671 |
| Schizophrenia | Rare NRXN2 variants may impair synaptic adhesion and neurotransmission | PMID: 21926972 |
| Intellectual disability | Loss-of-function mutations in NRXN2 affect synaptic development | PMID: 23934111 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Heart | 1.2 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuroblastoma cell line |
| U-87 MG | 3.1 | Glioblastoma cell line |
| HEK 293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, premature truncation |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, premature truncation |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown effect, rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Not reported for NRXN2.
Dominant Negative (DN)
Not reported for NRXN2.
View complete mutation data：
Gene Ontology (GO)
| • synaptic cell adhesion | • calcium ion binding |
| • cell adhesion | • presynaptic membrane |
| • synapse assembly | • neurexin family signaling |
Pathways
• Neurexin-neuroligin signaling
• Synaptic adhesion molecules
Protein Summary
Neurexin 2 is a single-pass type I membrane protein localized to the presynaptic membrane. It contains extracellular laminin G, EGF-like, and LNS domains, and a short cytoplasmic tail that interacts with PDZ domain-containing proteins. The protein mediates trans-synaptic adhesion by binding postsynaptic neuroligins, contributing to synaptic differentiation and neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRXN2 Knockout HEK293 Cell Line | EDJ-KQ6567 | Human | 9379 | Details Get a Quote |
| NRXN2 Knockout HeLa Cell Line | EDJ-KQ55147 | Human | 9379 | Details Get a Quote |
| NRXN2 Knockout A-549 Cell Line | EDJ-KQ63627 | Human | 9379 | Details Get a Quote |
| NRXN2 Knockout HCT 116 Cell Line | EDJ-KQ72091 | Human | 9379 | Details Get a Quote |
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