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transcription factor 4
Identifiers
Symbol TCF4
Entrez 6925
HUGO 11634
OMIM 602272
RefSeq NM_003199
UniProt P15884
Other data
Locus Chr. 18 q21.1

Transcription factor 4, also known as Immunoglobulin transcription factor 2 and TCF4, is a protein acting as a transcription factor. In humans this protein is encoded by the TCF4 gene.[1][2]

Contents

Function

This gene 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.[3]

Clinical significance

Mutations of the gene cause Pitt-Hopkins syndrome.

References

  1. ^ Breschel TS, McInnis MG, Margolis RL, Sirugo G, Corneliussen B, Simpson SG, McMahon FJ, MacKinnon DF, Xu JF, Pleasant N, Huo Y, Ashworth RG, Grundstrom C, Grundstrom T, Kidd KK, DePaulo JR, Ross CA (October 1997). "A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1". Hum. Mol. Genet. 6 (11): 1855–63. PMID 9302263. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9302263.  
  2. ^ Henthorn P, McCarrick-Walmsley R, Kadesch T (February 1990). "Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor". Nucleic Acids Res. 18 (3): 678. PMID 2308860. PMC 333500. http://nar.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=2308860.  
  3. ^ "Entrez Gene: TCF4 transcription factor 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6925.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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