Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

GTF2IRD1

Reviewed March 2008

What is the official name of the GTF2IRD1 gene?

The official name of this gene is “GTF2I repeat domain containing 1.”

GTF2IRD1 is the gene's official symbol. The GTF2IRD1 gene is also known by other names, listed below.

What is the normal function of the GTF2IRD1 gene?

The GTF2IRD1 gene provides instructions for making a protein that regulates the activity of many other genes. This protein probably interacts with specific regions of DNA and with other proteins to turn genes on or off. Based on this role, the GTF2IRD1 protein is called a transcription factor.

Although its exact function is unknown, the GTF2IRD1 gene is active in many of the body's tissues. It appears to be particularly important for gene regulation in the brain and in muscles used for movement (skeletal muscles). Studies suggest that this gene also plays a role in the development of tissues in the bones and face (craniofacial development).

How are changes in the GTF2IRD1 gene related to health conditions?

Williams syndrome - associated with the GTF2IRD1 gene

The GTF2IRD1 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 GTF2IRD1 gene in each cell. Studies suggest that the loss of this gene may contribute to some of the characteristic features of Williams syndrome, including the distinctive facial features, dental abnormalities, and problems with visual-spatial tasks such as writing and drawing. Researchers are investigating how a deletion of this gene may be related to these specific features.

Where is the GTF2IRD1 gene located?

Cytogenetic Location: 7q11.23

Molecular Location on chromosome 7: base pairs 74,453,789 to 74,602,604

The GTF2IRD1 gene is located on the long (q) arm of chromosome 7 at position 11.23.

The GTF2IRD1 gene is located on the long (q) arm of chromosome 7 at position 11.23.

More precisely, the GTF2IRD1 gene is located from base pair 74,453,789 to base pair 74,602,604 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 GTF2IRD1?

You and your healthcare professional may find the following resources about GTF2IRD1 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 GTF2IRD1 gene or gene products?

  • CREAM1
  • general transcription factor 3
  • GT2D1_HUMAN
  • GTF2I repeat domain-containing 1
  • GTF3
  • hMusTRD1alpha1
  • muscle TFII-I repeat domain-containing protein 1 alpha 1
  • MusTRD1
  • RBAP2
  • WBSCR11

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 GTF2IRD1?

cell ; chromosome ; cognition ; craniofacial ; deletion ; DNA ; domain ; gene ; gene regulation ; protein ; syndrome ; transcription ; transcription factor

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

References

  • 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)
  • Franke Y, Peoples RJ, Francke U. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet. 1999;86(3-4):296-304. (http://www.ncbi.nlm.nih.gov/pubmed/10575229?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)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9569)
  • O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC. Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. Mol Cell Biol. 1998 Nov;18(11):6641-52. Erratum in: Mol Cell Biol 2000 Jul;20(14):5361. (http://www.ncbi.nlm.nih.gov/pubmed/9774679?dopt=Abstract)
  • 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)
  • Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics. 1999 Apr 15;57(2):279-84. (http://www.ncbi.nlm.nih.gov/pubmed/10198167?dopt=Abstract)
  • Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. (http://www.ncbi.nlm.nih.gov/pubmed/10573005?dopt=Abstract)
  • Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3. (http://www.ncbi.nlm.nih.gov/pubmed/16293761?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)
  • Yan X, Zhao X, Qian M, Guo N, Gong X, Zhu X. Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. Biochem J. 2000 Feb 1;345 Pt 3:749-57. (http://www.ncbi.nlm.nih.gov/pubmed/10642537?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