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Gene Review

NLGN3  -  neuroligin 3

Homo sapiens

Synonyms: ASPGX1, AUTSX1, Gliotactin homolog, HNL3, KIAA1480, ...
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Disease relevance of NLGN3

  • CONCLUSIONS: The results of this study indicated that the NL3' score may reflect impairment of the impulse traversing the nerve root in the acute clinical stage, whereas the NT12 amplitude reflects a neurologic deficit [1].
  • NL3 cell extracts released only about a half of the misincorporated uracil as free base from nuclei, their chromatin and chromatin reconstituted from dUMP-containing DNA and calf thymus chromosomal protein, though almost all uracil from reconstituted chromatin containing PBS1 phage DNA [2].

Psychiatry related information on NLGN3

  • During the sequencing at an Xq13 locus associated with a mental retardation syndrome in some studies, we discovered a portion of the human orthologue of the rat neuroligin-3 gene [3].

High impact information on NLGN3

  • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism [4].
  • We demonstrate that the point mutation at arginine 451 and a nonsense mutation at aspartate 396 of neuroligin-3 and -4 (NL3 and NL4), respectively, result in intracellular retention of the mutant proteins [5].
  • Over-expression of wild-type NL3 and NL4 proteins in hippocampal neurons stimulates the formation of presynaptic terminals, whereas the disease-associated mutations result in a loss of this synaptic function [5].
  • The SCE responses of one established cell line, NL3, to 13 typical mutagens and five nonmutagens were examined [6].
  • Although these proteins have distinct oligomeric assemblies and cellular dispositions, homologous Arg residues in neuroligin-3 (Arg-451), in butyrylcholinesterase (Arg-386), and in acetylcholinesterase (Arg-395) are conserved in all studied mammalian species [7].

Biological context of NLGN3

  • A recent study has implicated two X-chromosomal neuroligin genes, NLGN3 and NLGN4, as having an etiological role in autism, having identified a frameshift mutation in one gene and a substitution mutation in the other, segregating in multiplex autism spectrum families (Jamain et al. [2003: Nat Genet 34:27-29]) [8].
  • Here, we report a detailed molecular genetic analysis of NLGN1, NLGN3, NLGN4, and NLNG4Y in the Finnish autism sample [9].
  • Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X-linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis [10].
  • Finally, transient co-transfection of the atonal-related bHLHs with Nurr1 resulted in an E-box-independent repression of Nurr1-induced transcriptional activation of a reporter containing Nurr1-binding element (NL3) as well as a reporter driven by the native tyrosine hydroxylase gene promoter [11].
  • To determine whether the proximity of these motifs may be important for transactivation by Nurr1 in the transient transfection assay, we generated reporter gene constructs in which NL3 is immediately proximal to the TATA box [12].

Associations of NLGN3 with chemical compounds

  • The novel truncated NLGN3 product may have a regulatory role, as reported in other proteins (for example, vasopressin receptor) by attenuating the function of the full length isoform, resulting in a reduction of the mature protein [13].
  • A mutation linked to autistic spectrum disorders encodes an Arg to Cys replacement in the C-terminal portion of the extracellular domain of neuroligin-3 [7].
  • Nasal fluid vanadium increased in boilermakers between NL1 and NL2 (median < 1.0 versus 4.7 ppb, respectively, p < 0.05), then decreased at NL3 (median, 4.7 versus < 1.0 ppb, respectively, p < 0. 05) [14].
  • Camptothecin (CPT), a DNA topoisomerase I inhibitor, dose-dependently induced sister-chromatid exchanges (SCEs) in human lymphoblastoid cells NL3 when added with bromodeoxyuridine (BrdUrd) for 2 cell cycles [15].
  • Cell-free extracts of human lymphoblastoid cells NL3 excised almost all uracil residues from free DNA with misincorporated dUMP, but only about half the uracil residues from nuclei, chromatin and reconstituted chromatin with dUMP-misincorporated DNA [16].

Analytical, diagnostic and therapeutic context of NLGN3

  • In boilermakers, MPO was elevated during boiler work versus preboiler work (mean = 33.8 versus 22.7 ng/ml, p < 0.05), and at the 2-wk postexposure lavage (NL3) it had declined to 24.2 ng/ml (p = 0.08) [14].


  1. Evaluation of lumbosacral nerve root lesions using evoked potentials recorded by a surface electrode technique. Osawa, T., Ogura, T., Hayashida, T., Mori, M., Hase, H. Spine. (2003) [Pubmed]
  2. Action of DNA glycosylases on chromatin structure. Ishiwata, K., Oikawa, A. Nucleic Acids Symp. Ser. (1981) [Pubmed]
  3. The structure and expression of the human neuroligin-3 gene. Philibert, R.A., Winfield, S.L., Sandhu, H.K., Martin, B.M., Ginns, E.I. Gene (2000) [Pubmed]
  4. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., Bourgeron, T. Nat. Genet. (2003) [Pubmed]
  5. Disorder-associated mutations lead to functional inactivation of neuroligins. Chih, B., Afridi, S.K., Clark, L., Scheiffele, P. Hum. Mol. Genet. (2004) [Pubmed]
  6. Epstein-Barr virus-transformed human lymphoblastoid cells for study of sister chromatid exchange and their evaluation as a test system. Tohda, H., Horaguchi, K., Takahashi, K., Oikawa, A., Matsushima, T. Cancer Res. (1980) [Pubmed]
  7. A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family. De Jaco, A., Comoletti, D., Kovarik, Z., Gaietta, G., Radic, Z., Lockridge, O., Ellisman, M.H., Taylor, P. J. Biol. Chem. (2006) [Pubmed]
  8. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Vincent, J.B., Kolozsvari, D., Roberts, W.S., Bolton, P.F., Gurling, H.M., Scherer, S.W. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004) [Pubmed]
  9. Analysis of four neuroligin genes as candidates for autism. Ylisaukko-oja, T., Rehnström, K., Auranen, M., Vanhala, R., Alen, R., Kempas, E., Ellonen, P., Turunen, J.A., Makkonen, I., Riikonen, R., Nieminen-von Wendt, T., von Wendt, L., Peltonen, L., Järvelä, I. Eur. J. Hum. Genet. (2005) [Pubmed]
  10. Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. Blasi, F., Bacchelli, E., Pesaresi, G., Carone, S., Bailey, A.J., Maestrini, E. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006) [Pubmed]
  11. Differential actions of the proneural genes encoding Mash1 and neurogenins in Nurr1-induced dopamine neuron differentiation. Park, C.H., Kang, J.S., Kim, J.S., Chung, S., Koh, J.Y., Yoon, E.H., Jo, A.Y., Chang, M.Y., Koh, H.C., Hwang, S., Suh-Kim, H., Lee, Y.S., Kim, K.S., Lee, S.H. J. Cell. Sci. (2006) [Pubmed]
  12. Orphan nuclear receptor Nurr1 directly transactivates the promoter activity of the tyrosine hydroxylase gene in a cell-specific manner. Kim, K.S., Kim, C.H., Hwang, D.Y., Seo, H., Chung, S., Hong, S.J., Lim, J.K., Anderson, T., Isacson, O. J. Neurochem. (2003) [Pubmed]
  13. Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. Talebizadeh, Z., Lam, D.Y., Theodoro, M.F., Bittel, D.C., Lushington, G.H., Butler, M.G. J. Med. Genet. (2006) [Pubmed]
  14. Molecular markers of acute upper airway inflammation in workers exposed to fuel-oil ash. Woodin, M.A., Hauser, R., Liu, Y., Smith, T.J., Siegel, P.D., Lewis, D.M., Tollerud, D.J., Christiani, D.C. Am. J. Respir. Crit. Care Med. (1998) [Pubmed]
  15. Camptothecin-induced sister-chromatid exchange dependent on the presence of bromodeoxyuridine and the phase of the cell cycle. Zhao, J.H., Tohda, H., Oikawa, A. Mutat. Res. (1992) [Pubmed]
  16. Chromatin structure interferes with excision of abnormal bases from DNA. Ishiwata, K., Oikawa, A. Biochim. Biophys. Acta (1982) [Pubmed]
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