NLGN4X
Neuroligin 4, X-linked: a synaptic cell adhesion molecule implicated in autism spectrum disorders and intellectual disability
Gene Information Card
| Symbol | NLGN4X |
|---|---|
| Full Name | Neuroligin 4, X-linked |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.32-p22.31 |
| NCBI Gene ID | 57502 ncbi.nlm.nih.gov/gene/57502 |
| Ensembl ID | ENSG00000146938 |
| UniProt ID | Q8N0W4 |
| OMIM ID | 300427 |
| HGNC ID | 14287 |
| Aliases | NLGN4, HNL4X, neuroligin 4 |
Description
NLGN4X encodes a member of the neuroligin family of neuronal cell surface proteins. Neuroligins act as ligands for neurexins and are essential for the formation and maintenance of synaptic contacts. This X-linked gene is highly expressed in the brain and mutations have been associated with autism spectrum disorders (ASD) and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder (ASD) | Missense and truncating mutations impair synaptic adhesion and signaling | ClinVar, OMIM |
| Intellectual disability, X-linked | Loss-of-function variants disrupt synapse maturation | ClinVar, OMIM |
| Asperger syndrome | Specific missense mutations (e.g., R87W) alter protein function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 1.2 | Low |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 3.2 | Glial origin |
| HEK 293 | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259C>T (p.Arg87Trp) | Missense | Rare | Impaired neurexin binding; associated with ASD |
| c.1186C>T (p.Arg396Cys) | Missense | Rare | Reduced surface expression; linked to intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Truncating and start-loss mutations lead to absent or non-functional protein, disrupting synaptic adhesion.
Gain of Function (GOF)
No clear gain-of-function mutations reported for NLGN4X.
Dominant Negative (DN)
Some missense variants (e.g., R87W) may interfere with wild-type neuroligin function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • synaptic transmission | • glutamatergic |
| • cell adhesion | • postsynaptic membrane |
| • neurexin binding | • synapse assembly |
Pathways
• Neurexin-neuroligin signaling
• Synaptic adhesion and organization
Protein Summary
NLGN4X encodes a 816-amino acid type I membrane protein with a large extracellular domain containing an acetylcholinesterase-like domain that mediates neurexin binding. It localizes to postsynaptic membranes and is critical for excitatory synapse specification. Alternative splicing generates isoforms with distinct binding properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLGN4X Knockout HEK293 Cell Line | EDJ-KQ14435 | Human | 57502 | Details Get a Quote |
| NLGN4X Knockout MDA-MB-231 Cell Line | EDJ-KZ366 | Human | 57502 | Details Get a Quote |
| NLGN4X Knockout HeLa Cell Line | EDJ-KQ56852 | Human | 57502 | Details Get a Quote |
| NLGN4X Knockout A-549 Cell Line | EDJ-KQ65365 | Human | 57502 | Details Get a Quote |
| NLGN4X Knockout HCT 116 Cell Line | EDJ-KQ73806 | Human | 57502 | Details Get a Quote |
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