NLGN4X
Neuroligin 4, X-linked | |||||||||||
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Identifiers | |||||||||||
Symbols | NLGN4X ; ASPGX2; AUTSX2; HLNX; HNLX; KIAA1260; MGC22376; NLGN; NLGN4 | ||||||||||
External IDs | Template:OMIM5 HomoloGene: 84460 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE NLGN4X 221933 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Neuroligin 4, X-linked, also known as NLGN4X, is a human gene.[1]
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. 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.[1]
References
Further reading
- Cantallops I, Cline HT (2000). "Synapse formation: if it looks like a duck and quacks like a duck ...". Curr. Biol. 10 (17): R620–3. PMID 10996085.
- Irie M, Hata Y, Takeuchi M; et al. (1997). "Binding of neuroligins to PSD-95". Science. 277 (5331): 1511–5. PMID 9278515.
- Nagase T, Ishikawa K, Kikuno R; et al. (2000). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. PMID 10574462.
- Bolliger MF, Frei K, Winterhalter KH, Gloor SM (2001). "Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression". Biochem. J. 356 (Pt 2): 581–8. PMID 11368788.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Jamain S, Quach H, Betancur C; et al. (2003). "Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism". Nat. Genet. 34 (1): 27–9. doi:10.1038/ng1136. PMID 12669065.
- Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Laumonnier F, Bonnet-Brilhault F, Gomot M; et al. (2004). "X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family". Am. J. Hum. Genet. 74 (3): 552–7. doi:10.1086/382137. PMID 14963808.
- Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMID 15340161.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Yan J, Oliveira G, Coutinho A; et al. (2005). "Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients". Mol. Psychiatry. 10 (4): 329–32. doi:10.1038/sj.mp.4001629. PMID 15622415.
- Blasi F, Bacchelli E, Pesaresi G; et al. (2006). "Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (3): 220–1. doi:10.1002/ajmg.b.30287. PMID 16508939.
- Talebizadeh Z, Lam DY, Theodoro MF; et al. (2006). "Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism". J. Med. Genet. 43 (5): e21. doi:10.1136/jmg.2005.036897. PMID 16648374.
- Yamakawa H, Oyama S, Mitsuhashi H; et al. (2007). "Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations". Biochem. Biophys. Res. Commun. 355 (1): 41–6. doi:10.1016/j.bbrc.2007.01.127. PMID 17292328.
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