Immunoglobulin Transcription Factor 2 (ITF2)

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TCF4; SEF2; ITF2; bHLHb19; PTHS; Transcription Factor 4; Class B basic helix-loop-helix protein 19; Immunoglobulin transcription factor 2; SL3-3 enhancer factor 2

Immunoglobulin Transcription Factor 2 (ITF2)
ITF2 encodes transcription factor 4, a basic helix-turn-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is expressed predominantly in pre-B-cells, although it is found in other tissues as well. Multiple alternatively spliced transcript variants that encode different proteins have been described.Sequencing revealed that this factor was the murine homolog of human SEF2-1B. DNA binding studies demonstrated that the basal transcription factor TFIIB can be tethered to the SSTR2 initiator element through physical interaction with SEF2. Northern blot analysis revealed that SEF2-1B is expressed in human adult and embryonic tissues including heart, brain, placenta, skeletal muscle, and lung.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Immunoglobulin Transcription Factor 2 (ITF2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Immunoglobulin Transcription Factor 2 (ITF2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Immunoglobulin Transcription Factor 2 (ITF2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Immunoglobulin Transcription Factor 2 (ITF2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Immunoglobulin Transcription Factor 2 (ITF2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Immunoglobulin Transcription Factor 2 (ITF2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Immunoglobulin Transcription Factor 2 (ITF2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Immunoglobulin Transcription Factor 2 (ITF2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Immunoglobulin Transcription Factor 2 (ITF2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Immunoglobulin Transcription Factor 2 (ITF2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Immunoglobulin Transcription Factor 2 (ITF2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Immunoglobulin Transcription Factor 2 (ITF2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Immunoglobulin Transcription Factor 2 (ITF2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Immunoglobulin Transcription Factor 2 (ITF2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Immunoglobulin Transcription Factor 2 (ITF2) ELISA Kit Customized Service Offer
  1. "Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers."J. Virol. 65:6084-6093(1991) [PubMed] [Europe PMC] [Abstract]
  2. "Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing."PLoS ONE 6:E22138-E22138(2011) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 18." Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1."Hum. Mol. Genet. 6:1855-1863(1997) [PubMed] [Europe PMC] [Abstract]
  7. "Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor."Nucleic Acids Res. 18:678-678(1990) [PubMed] [Europe PMC] [Abstract]
  8. "Two distinct transcription factors that bind the immunoglobulin enhancer microE5/kappa 2 motif."Science 247:467-470(1990) [PubMed] [Europe PMC] [Abstract]
  9. "Nine-amino-acid transactivation domain: establishment and prediction utilities."Genomics 89:756-768(2007) [PubMed] [Europe PMC] [Abstract]
  10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome."Hum. Mutat. 33:1676-1686(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4."Am. J. Hum. Genet. 93:758-764(2013) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction."Am. J. Hum. Genet. 80:988-993(2007) [PubMed] [Europe PMC] [Abstract]
  14. "Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)."Am. J. Hum. Genet. 80:994-1001(2007) [PubMed] [Europe PMC] [Abstract]
  15. "Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients." J. Med. Genet. 45:738-744(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome." Hum. Mutat. 30:669-676(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Two percent of patients suspected of having Angelman syndrome have TCF4 mutations."Clin. Genet. 78:282-288(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum." Hum. Mutat. 33:64-72(2012) [PubMed] [Europe PMC] [Abstract]