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Genetics Home Reference: your guide to understanding genetic conditions
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GTF2I

Reviewed March 2008

What is the official name of the GTF2I gene?

The official name of this gene is “general transcription factor IIi.”

GTF2I is the gene's official symbol. The GTF2I gene is also known by other names, listed below.

What is the normal function of the GTF2I gene?

The GTF2I gene provides instructions for making two proteins, BAP-135 and TFII-I. BAP-135 is involved in normal immune system function. It is active in B cells, which are a specialized type of white blood cell that protects the body against infection. When a B cell senses a foreign substance (such as a virus), it triggers a series of chemical reactions that instruct the cell to mature, divide, and produce specific proteins called antibodies to fight the infection. The BAP-135 protein is activated as part of this series of chemical reactions; it transmits chemical signals that allow B cells to respond to potentially harmful invaders.

TFII-I, the other protein produced from the GTF2I gene, binds to specific areas of DNA and helps regulate the activity of other genes. Based on this role, TFII-I is called a transcription factor. This protein is active in the brain and many other tissues in the body. Studies suggest that the TFII-I protein is involved in coordinating cell growth and division, and it may also play a role in controlling the flow of calcium into cells.

How are changes in the GTF2I gene related to health conditions?

Williams syndrome - associated with the GTF2I gene

The GTF2I gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome. As a result of this deletion, people with this condition are missing one copy of the GTF2I gene in each cell. Studies suggest that the loss of this gene is partly responsible for intellectual disability in people with Williams syndrome. Loss of this gene may also contribute to dental abnormalities and the characteristic problems with visual-spatial tasks, such as writing and drawing, that are seen in this disorder. Researchers are investigating how a deletion involving this gene may be related to these specific features of Williams syndrome.

Where is the GTF2I gene located?

Cytogenetic Location: 7q11.23

Molecular Location on chromosome 7: base pairs 74,657,664 to 74,760,691

The GTF2I gene is located on the long (q) arm of chromosome 7 at position 11.23.

The GTF2I gene is located on the long (q) arm of chromosome 7 at position 11.23.

More precisely, the GTF2I gene is located from base pair 74,657,664 to base pair 74,760,691 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GTF2I?

You and your healthcare professional may find the following resources about GTF2I helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GTF2I gene or gene products?

  • BAP135
  • BAP-135
  • Bruton tyrosine kinase-associated protein 135
  • BTKAP1
  • BTK-associated protein, 135kD
  • DIWS
  • GTF2I_HUMAN
  • IB291
  • SPIN
  • TFII-I
  • WBSCR6

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GTF2I?

calcium ; cell ; chromosome ; cognition ; deletion ; disability ; DNA ; gene ; immune system ; infection ; kinase ; protein ; syndrome ; transcription ; transcription factor ; tyrosine ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Caraveo G, van Rossum DB, Patterson RL, Snyder SH, Desiderio S. Action of TFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry. Science. 2006 Oct 6;314(5796):122-5. (http://www.ncbi.nlm.nih.gov/pubmed/17023658?dopt=Abstract)
  • Danoff SK, Taylor HE, Blackshaw S, Desiderio S. TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype. Neuroscience. 2004;123(4):931-8. (http://www.ncbi.nlm.nih.gov/pubmed/14751286?dopt=Abstract)
  • Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet. 2007 Feb;44(2):136-43. Epub 2006 Sep 13. (http://www.ncbi.nlm.nih.gov/pubmed/16971481?dopt=Abstract)
  • Egloff AM, Desiderio S. Identification of phosphorylation sites for Bruton's tyrosine kinase within the transcriptional regulator BAP/TFII-I. J Biol Chem. 2001 Jul 27;276(30):27806-15. Epub 2001 May 23. (http://www.ncbi.nlm.nih.gov/pubmed/11373296?dopt=Abstract)
  • Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR. Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med. 2003 Jul-Aug;5(4):311-21. (http://www.ncbi.nlm.nih.gov/pubmed/12865760?dopt=Abstract)
  • Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7(5):380-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16760918?dopt=Abstract)
  • Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. (http://www.ncbi.nlm.nih.gov/pubmed/14556246?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2969)
  • Ohazama A, Sharpe PT. TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. Dev Dyn. 2007 Oct;236(10):2884-8. (http://www.ncbi.nlm.nih.gov/pubmed/17823943?dopt=Abstract)
  • Pérez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet. 1998 Mar;7(3):325-34. (http://www.ncbi.nlm.nih.gov/pubmed/9466987?dopt=Abstract)
  • Roy AL. Signal-induced functions of the transcription factor TFII-I. Biochim Biophys Acta. 2007 Nov-Dec;1769(11-12):613-21. Epub 2007 Oct 11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17976384?dopt=Abstract)
  • Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. Epub 2003 Sep 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12952863?dopt=Abstract)
  • Yang W, Desiderio S. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. Proc Natl Acad Sci U S A. 1997 Jan 21;94(2):604-9. (http://www.ncbi.nlm.nih.gov/pubmed/9012831?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2008
Published: October 20, 2014