protein
Neuroligin-4, X-linked
aka Neuroligin X
Gene
NLGN4X
Organism
Homo sapiens(9606)
Length
816 aa
Mass
91,915 Da
Neuroligin-4, X-linked (NLGN4X) is a cell surface protein that mediates cell-cell interactions through binding to neurexin family members (UniProt: Q8N0W4). The protein is 816 amino acids in length and functions as a key synaptic adhesion molecule.
NLGN4X is expressed in neural tissues where it plays a critical role in synaptic organization and function. Mutations in NLGN4X are associated with Autism, X-linked 2 (AUTSX2), a developmental disorder characterized by impairments in social interaction and communication, restricted behavioral patterns, and intellectual disability that typically manifests by age 3.
NLGN4X is classified as a syndromic autism gene with SFARI category 2 evidence (SFARI Cat 2), indicating strong scientific support for its role in autism susceptibility. The X-linked inheritance pattern and functional involvement in synaptic cell-adhesion underscore its importance in neurodevelopmental pathways disrupted in autism spectrum conditions.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
-0.320
P2
not detected
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: -0.3201 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
This protein is implicated in both ASD and Alzheimer's Disease. View all cross-disease proteins →
Related Publications
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Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members
Disease associations
Autism, X-linked 2AUTSX2
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 intellectual disability.
Sources
Last updated 5/8/2026, 1:09:22 AM