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Gene Review

GTF2IRD2  -  GTF2I repeat domain containing 2

Homo sapiens

Synonyms: FLJ37938, FP630, GTF2I repeat domain-containing protein 2A, GTF2IRD2 alpha, GTF2IRD2A, ...
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Disease relevance of GTF2IRD2


High impact information on GTF2IRD2

  • Deletion breakpoints were precisely defined and were found to result in variability at two genes, NCF1 and GTF2IRD2 [2].
  • The comparison of GTF2I and GTF2IRD2 genes revealed two distinct regions of homology, indicating that the helix-loop-helix domain structure of the GTF2IRD2 gene has been generated by two independent genomic duplications [1].
  • In the present work, we characterize a third member, GTF2IRD2, which has sequence and structural similarity to the GTF2I and GTF2IRD1 paralogs [1].
  • Comparison of genomic sequences surrounding GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region [1].
  • The GTF2IRD2 protein contains two putative helix-loop-helix regions (I-repeats) and an unusual C-terminal CHARLIE8 transposon-like domain, thought to have arisen as a consequence of the random insertion of a transposable element generating a functional fusion gene [3].


  1. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. Makeyev, A.V., Erdenechimeg, L., Mungunsukh, O., Roth, J.J., Enkhmandakh, B., Ruddle, F.H., Bayarsaihan, D. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Del Campo, M., Antonell, A., Magano, L.F., Muñoz, F.J., Flores, R., Bayés, M., Pérez Jurado, L.A. Am. J. Hum. Genet. (2006) [Pubmed]
  3. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. Tipney, H.J., Hinsley, T.A., Brass, A., Metcalfe, K., Donnai, D., Tassabehji, M. Eur. J. Hum. Genet. (2004) [Pubmed]
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