Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region

Cytogenet Cell Genet. 2001;93(3-4):239-41. doi: 10.1159/000056990.


NFAT5, also known as tonicity enhancer binding protein (TonEBP) or NFATL1, is a new member of the immunologically important NFAT protein family. Despite its obvious relationship to this transcription factor family, NFAT5 shows distinct ways of regulation and function. The complete coding sequence and its alternative splice forms have been described previously. This sequence only refers to less than half of the total mRNA length. High conservation of this gene was shown among man, mouse, and pig. Here we report the cloning of the complete 14-kb cDNA sequence, its genomic organization, and a possible fourth isoform of the corresponding protein. Additionally, we describe the promoter region by CpG-island methylation analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cloning, Molecular
  • Conserved Sequence / genetics
  • CpG Islands / genetics*
  • DNA Methylation
  • DNA, Complementary / genetics
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Exons / genetics*
  • Humans
  • Introns / genetics*
  • Molecular Sequence Data
  • Mutation / genetics
  • NFATC Transcription Factors
  • Promoter Regions, Genetic / genetics*
  • RNA Splice Sites / genetics
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*


  • DNA, Complementary
  • DNA-Binding Proteins
  • NFATC Transcription Factors
  • RNA Splice Sites
  • RNA, Messenger
  • Transcription Factors

Associated data

  • GENBANK/AF346509