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GTF2I

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.

Read more about gene names and symbols on the About page.

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? 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

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.

See also Understanding Medical Terminology.

References (13 links)

 

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? in the Handbook.

 
Reviewed: March 2008
Published: December 16, 2014