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GTF2IRD1 gene
URL of this page: https://medlineplus.gov/genetics/gene/gtf2ird1/

GTF2IRD1 gene

GTF2I repeat domain containing 1

Normal Function

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 head and face (craniofacial development).

Health Conditions Related to Genetic Changes

Williams syndrome

The GTF2IRD1 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. As a result of the deletion, people with Williams syndrome 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, personality characteristics such as sociability, 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.

More About This Health Condition

Other Names for This Gene

  • 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Jarvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Am J Med Genet A. 2009 Mar;149A(3):302-14. doi: 10.1002/ajmg.a.32652. Citation on PubMed
  • Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Gonzalez 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. doi: 10.1136/jmg.2006.044537. Epub 2006 Sep 13. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1159/000015322. Citation on PubMed
  • 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. doi: 10.1097/01.GIM.0000076975.10224.67. Citation on PubMed
  • Karmiloff-Smith A, Broadbent H, Farran EK, Longhi E, D'Souza D, Metcalfe K, Tassabehji M, Wu R, Senju A, Happe F, Turnpenny P, Sansbury F. Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients. Front Psychol. 2012 May 30;3:168. doi: 10.3389/fpsyg.2012.00168. eCollection 2012. Citation on PubMed
  • Kopp ND, Nygaard KR, Liu Y, McCullough KB, Maloney SE, Gabel HW, Dougherty JD. Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences. Hum Mol Genet. 2020 Jun 3;29(9):1498-1519. doi: 10.1093/hmg/ddaa070. Citation on PubMed
  • Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Williams syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Citation on PubMed
  • 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. doi: 10.1038/nrn1906. Citation on PubMed
  • 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. doi: 10.1128/MCB.18.11.6641. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1006/geno.1999.5784. Citation on PubMed
  • 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. doi: 10.1038/sj.ejhg.5200396. Citation on PubMed
  • 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. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Citation on PubMed
  • van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI. Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiol Dis. 2007 Apr;26(1):112-24. doi: 10.1016/j.nbd.2006.12.009. Epub 2006 Dec 20. Citation on PubMed
  • 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(Pt 3):749-57. Citation on PubMed or Free article on PubMed Central

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