NLGN4X

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.

Full Name

Neuroligin 4, X-Linked

Function

Putative neuronal cell surface protein involved in cell-cell-interactions.

Biological Process

Adult behaviorManual Assertion Based On ExperimentIMP:BHF-UCL
Brainstem developmentBy SimilarityISS:BHF-UCL
Cell-cell junction organization1 PublicationNAS:UniProtKB
Cerebellum developmentBy SimilarityISS:BHF-UCL
Chemical synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
LearningManual Assertion Based On ExperimentIMP:BHF-UCL
Modulation of chemical synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Negative regulation of excitatory postsynaptic potentialManual Assertion Based On ExperimentIDA:BHF-UCL
Neuron cell-cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Neuron differentiation1 PublicationNAS:BHF-UCL
Organ growthBy SimilarityISS:BHF-UCL
Postsynaptic membrane assemblyManual Assertion Based On ExperimentIBA:GO_Central
Presynapse assemblyManual Assertion Based On ExperimentTAS:ARUK-UCL
Presynaptic membrane assemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Social behaviorManual Assertion Based On ExperimentIMP:UniProtKB
Synapse organizationManual Assertion Based On ExperimentIMP:UniProtKB
Synaptic vesicle endocytosisManual Assertion Based On ExperimentIBA:GO_Central
Vocalization behaviorManual Assertion Based On ExperimentIMP:BHF-UCL

Cellular Location

Cell membrane
Cell junction, synapse, postsynaptic density membrane

Involvement in disease

Autism, X-linked 2 (AUTSX2):
A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
Asperger syndrome, X-linked, 2 (ASPGX2):
A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.

Topology

Extracellular: 42-676
Helical: 677-697
Cytoplasmic: 698-816