The structure and expression of the human neuroligin-3 gene

Gene. 2000 Apr 4;246(1-2):303-10. doi: 10.1016/s0378-1119(00)00049-4.


The neuroligins are a family of proteins that are thought to mediate cell to cell interactions between neurons. 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. We now report the structure and the expression of that gene. The gene spans approximately 30kb and contains eight exons. Unlike the rat gene, it codes for at least two mRNAs and at least one of which is expressed outside the CNS. Interestingly, the putative promoter for the gene overlaps the last exon of the neighboring HOPA gene and is located less than 1kb from an OPA element in which a polymorphism associated with mental retardation is found. These findings suggest a possible role for the neuroligin gene in mental retardation and that the role of the gene in humans may differ from its role in rats.

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Brain / embryology
  • Brain / metabolism
  • Cell Adhesion Molecules, Neuronal
  • DNA / chemistry
  • DNA / genetics
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Exons
  • Female
  • Gene Expression
  • Gene Expression Regulation, Developmental
  • Genes / genetics*
  • Humans
  • Introns
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Protein Isoforms / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Tissue Distribution


  • Cell Adhesion Molecules, Neuronal
  • DNA, Complementary
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Protein Isoforms
  • RNA, Messenger
  • neuroligin 3
  • DNA

Associated data

  • GENBANK/AF217411
  • GENBANK/AF217412
  • GENBANK/AF217413