NLGN3 Gene Summary [Human]
This gene encodes a member of 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. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | NLGN3 |
| Official Name | neuroligin 3 [Source:HGNC Symbol;Acc:HGNC:14289] |
| Ensembl ID | ENSG00000196338 |
| Bio databases IDs | |
| Aliases | neuroligin 3 |
| Synonyms | A230085M13Rik, HNL3, neuroligin 3, NL-3, NLG3 |
| Species | Human, Homo sapiens |
| Orthologies |
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 NLGN3 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
- signaling receptor activity
- cytoplasmic domain
- alpha/beta hydrolases
- alpha/beta hydrolase fold domain
- cell adhesion molecule binding
- neurexin binding
- protein binding
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypogonadotropic hypogonadism
- susceptibility to X-linked autism type 1
- pervasive developmental disorder
- hereditary disorder
- X-linked complex neurodevelopmental disorder
- polycystic kidney disease
- mental retardation
- Asperger syndrome
- autism
- productive infection by HIV-1
role in cell
- number
- expression in
- differentiation
- synaptic transmission
- formation
- organization
- assembly
- morphogenesis
- plasticity
- sphere formation by
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
- postsynaptic membrane
- synaptic membrane
- dendritic spines
- synapse
- endocytotic vesicle
- perikaryon
- dendrites
- inhibitory synapse
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NLGN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- social behavior
- rhythmic synaptic transmission
- synapse organization
- positive regulation of glutamate receptor signaling pathway
- neuron cell-cell adhesion
- synaptic transmission
- regulation of respiratory gaseous exchange by neurological system process
- learning
- receptor-mediated endocytosis
- synapse assembly
- postsynaptic membrane assembly
- synaptic vesicle endocytosis
- axon extension
- presynaptic membrane assembly
- regulation of inhibitory postsynaptic membrane potential
- regulation of synaptic transmission
- positive regulation of excitatory postsynaptic membrane potential
- positive regulation of synaptic transmission, glutamatergic
- positive regulation of synapse assembly
- adult behavior
- vocalization behavior
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- postsynaptic membrane
- excitatory synapse
- membrane
- synapse
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- scaffold protein binding
- protein binding
- cell adhesion molecule binding
- signaling receptor activity
- neurexin family protein binding