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®

TGIF1

Reviewed September 2010

What is the official name of the TGIF1 gene?

The official name of this gene is “TGFB-induced factor homeobox 1.”

TGIF1 is the gene's official symbol. The TGIF1 gene is also known by other names, listed below.

What is the normal function of the TGIF1 gene?

The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain). TG-interacting factor is a transcription factor, which means that it regulates the activity of certain genes. This protein turns off genes by attaching (binding) to specific regions of DNA or by interacting with other DNA-binding proteins.

TG-interacting factor regulates signaling pathways that are important for embryonic development. This protein blocks the signals of the transforming growth factor beta (TGF-β) pathway. This signaling pathway transmits chemical signals from the cell surface to the nucleus, which allows the environment outside the cell to affect how the cell produces other proteins. TG-interacting factor also blocks a molecule called retinoic acid from regulating gene activity. Retinoic acid, a form of vitamin A, binds to a group of transcription factors that regulate a number of genes important for early development. By blocking these signaling pathways, TG-interacting factor ensures that certain genes are turned off at the proper time.

Does the TGIF1 gene share characteristics with other genes?

The TGIF1 gene belongs to a family of genes called homeobox (homeoboxes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the TGIF1 gene related to health conditions?

nonsyndromic holoprosencephaly - caused by mutations in the TGIF1 gene

At least 13 mutations in the TGIF1 gene have been found to cause nonsyndromic holoprosencephaly. This condition occurs when the brain fails to divide into two halves (hemispheres) during early development. TGIF1 gene mutations are the fourth most common cause of nonsyndromic holoprosencephaly. These mutations disrupt the protein's ability to bind with DNA or interact with other proteins. As a result, TG-interacting factor cannot block the signals of the TGF-β pathway and retinoic acid. If the signals involved in forebrain development are not properly regulated, the brain does not separate into two hemispheres. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.

Where is the TGIF1 gene located?

Cytogenetic Location: 18p11.3

Molecular Location on chromosome 18: base pairs 3,412,071 to 3,458,408

The TGIF1 gene is located on the short (p) arm of chromosome 18 at position 11.3.

The TGIF1 gene is located on the short (p) arm of chromosome 18 at position 11.3.

More precisely, the TGIF1 gene is located from base pair 3,412,071 to base pair 3,458,408 on chromosome 18.

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 TGIF1?

You and your healthcare professional may find the following resources about TGIF1 helpful.

  • Educational resources - Information pages
    Neuroscience (second edition, 2001): The Molecular Basis of Neural Induction (http://www.ncbi.nlm.nih.gov/books/NBK10823/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1530/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for TGIF1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7050%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(TGIF1%5BTIAB%5D)%20OR%20((HPE4%5BTIAB%5D)%20OR%20(TGIF%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/602630)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TGIF1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7050)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7050)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11776)

What other names do people use for the TGIF1 gene or gene products?

  • homeobox protein TGIF
  • homeobox protein TGIF1
  • HPE4
  • MGC39747
  • MGC5066
  • TALE homeobox TG-interacting factor
  • 5'-TG-3' interacting factor
  • 5'-TG-3'-interacting factor 1
  • TGIF
  • TGIF1_HUMAN
  • transforming growth factor-beta-induced factor

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 TGIF1?

cell ; DNA ; embryonic ; gene ; growth factor ; holoprosencephaly ; homeobox ; molecule ; nucleus ; protein ; 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

  • Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V. Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 2003 Feb;112(2):131-4. Epub 2002 Nov 21. (http://www.ncbi.nlm.nih.gov/pubmed/12522553?dopt=Abstract)
  • Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17274816?dopt=Abstract)
  • El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M. Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab. 2007 Jan;90(1):97-111. Epub 2006 Sep 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16962354?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7050)
  • Gene Review: Holoprosencephaly (http://www.ncbi.nlm.nih.gov/books/NBK1530/)
  • Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ. Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet. 2000 Jun;25(2):205-8. (http://www.ncbi.nlm.nih.gov/pubmed/10835638?dopt=Abstract)
  • OMIM: TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR (http://omim.org/entry/602630)
  • Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20104595?dopt=Abstract)
  • Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20104608?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: September 2010
Published: May 20, 2013