NLGN4X

NLGN4X
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2WQZ, 2XB6, 3BE8
Identifiers
Aliases	NLGN4X, ASPGX2, AUTSX2, HLNX, HNL4X, NLGN4, neuroligin 4, X-linked, neuroligin 4 X-linked
External IDs	OMIM: 300427 HomoloGene: 136297 GeneCards: NLGN4X
Gene location (Human) Chr. X chromosome (human) Band Xp22.32-p22.31 Start 5,840,637 bp End 6,228,867 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 spinal ganglia cerebellar vermis entorhinal cortex secondary oocyte Brodmann area 46 endothelial cell postcentral gyrus germinal epithelium n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity scaffold protein binding carboxylic ester hydrolase activity neurexin family protein binding protein binding chloride ion binding cell adhesion molecule binding signaling receptor activity Cellular component integral component of membrane postsynaptic membrane membrane postsynaptic density synapse integral component of plasma membrane excitatory synapse cell surface cell junction dendrite plasma membrane intracellular anatomical structure spanning component of membrane presynapse symmetric, GABA-ergic, inhibitory synapse asymmetric, glutamatergic, excitatory synapse Biological process cell-cell junction organization organ growth neuron cell-cell adhesion brainstem development synapse organization learning cerebellum development negative regulation of excitatory postsynaptic potential presynaptic membrane assembly vocalization behavior adult behavior cell adhesion neuron differentiation social behavior synaptic vesicle endocytosis postsynaptic membrane assembly modulation of chemical synaptic transmission presynapse assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57502 n/a Ensembl ENSG00000146938 n/a UniProt Q8N0W4 n/a RefSeq (mRNA) NM_001282145 NM_001282146 NM_020742 NM_181332 n/a RefSeq (protein) NP_001269074 NP_001269075 NP_065793 NP_851849 n/a Location (UCSC) Chr X: 5.84 – 6.23 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

Neuroligin-4, X-linked is a protein that in humans is encoded by the NLGN4X gene.

In the human brain, the synaptic protein NLGN4 is primarily expressed in the cerebral cortex.

This gene encodes a member of the neuroligin family of neuronal cell surface proteins. Neuroligins 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 (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene.

Further reading

• Cantallops I, Cline HT (September 2000). "Synapse formation: if it looks like a duck and quacks like a duck". Current Biology. 10 (17): R620-3. doi:10.1016/S0960-9822(00)00663-1. PMID 10996085.
• Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, et al. (September 1997). "Binding of neuroligins to PSD-95". Science. 277 (5331): 1511–5. doi:10.1126/science.277.5331.1511. PMID 9278515.
• Bolliger MF, Frei K, Winterhalter KH, Gloor SM (June 2001). "Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression". The Biochemical Journal. 356 (Pt 2): 581–8. doi:10.1042/0264-6021:3560581. PMC 1221872. PMID 11368788.
• Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, et al. (May 2003). "Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism". Nature Genetics. 34 (1): 27–9. doi:10.1038/ng1136. PMC 1925054. PMID 12669065.
• Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, et al. (March 2004). "X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family". American Journal of Human Genetics. 74 (3): 552–7. doi:10.1086/382137. PMC 1182268. PMID 14963808.
• Zhang Z, Henzel WJ (October 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Science. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
• Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C, et al. (April 2005). "Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients". Molecular Psychiatry. 10 (4): 329–32. doi:10.1038/sj.mp.4001629. hdl:10400.18/346. PMID 15622415. S2CID 17530049.
• Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E (April 2006). "Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 141B (3): 220–1. doi:10.1002/ajmg.b.30287. PMID 16508939. S2CID 42297317.
• Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG (May 2006). "Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism". Journal of Medical Genetics. 43 (5): e21. doi:10.1136/jmg.2005.036897. PMC 2564526. PMID 16648374.
• Yamakawa H, Oyama S, Mitsuhashi H, Sasagawa N, Uchino S, Kohsaka S, Ishiura S (March 2007). "Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations". Biochemical and Biophysical Research Communications. 355 (1): 41–6. doi:10.1016/j.bbrc.2007.01.127. PMID 17292328.