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FOXP2 gene
URL of this page: https://medlineplus.gov/genetics/gene/foxp2/

FOXP2 gene

forkhead box P2

Normal Function

The FOXP2 gene provides instructions for making a protein that acts as a transcription factor, which means that it controls the activity of other genes. It attaches (binds) to the DNA of these genes at a region of the protein known as a forkhead domain. Researchers suspect that the FOXP2 protein may regulate the activity of hundreds of genes.

The FOXP2 protein is active in several tissues, including the brain, both before and after birth. Studies suggest that the FOXP2 protein plays a key role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs. Specifically, this protein is important for synaptic plasticity, which is the ability of synapses to change and adapt to experience over time. Synaptic plasticity is necessary for learning and memory. 

The FOXP2 protein appears to be essential for the normal development of speech and language. Researchers are working to determine which genes are influenced by the FOXP2 protein and how changes in their activity lead to abnormal speech and language development.

Health Conditions Related to Genetic Changes

FOXP2-related speech and language disorder

Several variants (also called mutations) in the FOXP2 gene cause FOXP2-related speech and language disorder, a condition that affects the development of speech and language beginning in early childhood.

The genetic changes that cause FOXP2-related speech and language disorder disrupt the activity of the FOXP2 gene. As a result, cells produce an abnormal version of the FOXP2 protein that does not function properly. Because the FOXP2 protein is a transcription factor, these changes also affect the activity of other genes in the developing brain, many of which are essential for the development of speech and language.

The FOXP2 gene is one of the genes found on chromosome 7. Changes that affect the FOXP2 gene and neighboring genes on this chromosome can cause a disorder known as FOXP2-plus-related speech and language disorder. These changes can include a rearrangement or a deletion of material on chromosome 7. In other cases, an individual inherits two copies of chromosome 7 from the egg cell instead of one copy from the egg cell and one copy from the sperm cell (a phenomenon called uniparental disomy or UPD). Because these changes affect the FOXP2 gene and neighboring genes, people with FOXP2-plus-related speech and language disorder tend to be more severely affected than individuals who only have a variant in the FOXP2 gene.

More About This Health Condition

Other Names for This Gene

  • CAG repeat protein 44
  • CAGH44
  • forkhead/winged-helix transcription factor
  • SPCH1
  • TNRC10
  • trinucleotide repeat containing 10

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

  • Fisher SE, Scharff C. FOXP2 as a molecular window into speech and language. Trends Genet. 2009 Apr;25(4):166-77. doi: 10.1016/j.tig.2009.03.002. Epub 2009 Mar 21. Citation on PubMed
  • Graham SA, Fisher SE. Understanding Language from a Genomic Perspective. Annu Rev Genet. 2015;49:131-60. doi: 10.1146/annurev-genet-120213-092236. Epub 2015 Oct 5. Citation on PubMed
  • Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature. 2001 Oct 4;413(6855):519-23. doi: 10.1038/35097076. Citation on PubMed
  • MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, Fisher SE. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet. 2005 Jun;76(6):1074-80. doi: 10.1086/430841. Epub 2005 Apr 22. Citation on PubMed or Free article on PubMed Central
  • Morgan A, Fisher SE, Scheffer I, Hildebrand M. FOXP2-Related Speech and Language Disorder. 2016 Jun 23 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK368474/ Citation on PubMed
  • Nagy O, Karteszi J, Elmont B, Ujfalusi A. Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene. Front Pediatr. 2021 Aug 20;9:664548. doi: 10.3389/fped.2021.664548. eCollection 2021. Citation on PubMed
  • Vernes SC, Oliver PL, Spiteri E, Lockstone HE, Puliyadi R, Taylor JM, Ho J, Mombereau C, Brewer A, Lowy E, Nicod J, Groszer M, Baban D, Sahgal N, Cazier JB, Ragoussis J, Davies KE, Geschwind DH, Fisher SE. Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genet. 2011 Jul;7(7):e1002145. doi: 10.1371/journal.pgen.1002145. Epub 2011 Jul 7. Citation on PubMed or Free article on PubMed Central

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