NLGN4X Gene Summary [Human]
This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Details
| Type | Processed Transcript |
| Official Symbol | NLGN4X |
| Official Name | neuroligin 4 X-linked [Source:HGNC Symbol;Acc:HGNC:14287] |
| Ensembl ID | ENSG00000146938 |
| Bio databases IDs | |
| Aliases | neuroligin 4 X-linked |
| Synonyms | ASPGX2, AUTSX2, HLNX, HNL4X, neuroligin 4 X-linked, Neuroligin X, NLGN4 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NLGN4X often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Carboxylesterase family
- binding protein
- alpha/beta hydrolases
- cell adhesion molecule binding
- neurexin binding
- protein homodimerization
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- autism
- Asperger syndrome
- hereditary disorder
- insomnia
- X-linked mental retardation
- susceptibility to X-linked autism type 2
- X-linked complex neurodevelopmental disorder
- neuroticism
role in cell
- assembly
- organization
- cell-cell adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cell surface
- cellular membrane
- synaptic membrane
- synapse
- dendrites
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NLGN4X gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- social behavior
- organ growth
- synapse organization
- neuron differentiation
- cerebellum development
- brainstem development
- neuron cell-cell adhesion
- synaptic transmission
- negative regulation of excitatory postsynaptic membrane potential
- learning
- cell-cell junction organization
- postsynaptic membrane assembly
- synaptic vesicle endocytosis
- presynaptic membrane assembly
- regulation of synaptic transmission
- adult behavior
- regulation of synapse assembly
- vocalization behavior
Cellular Component
Where in the cell the gene product is active
- dendrite
- excitatory synapse
- membrane
- synapse
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- chloride ion binding
- protein homodimerization activity
- protein binding
- cell adhesion molecule binding
- signaling receptor activity
- neurexin family protein binding