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FOXP2
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FOXP2

The information on this page was automatically extracted from online scientific databases.

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What is the official name of the FOXP2 gene?

The official name of this gene is “forkhead box P2.”

FOXP2 is the gene's official symbol. The FOXP2 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 FOXP2 gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Involved in neural mechanisms mediating the development of speech and language.

How are changes in the FOXP2 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the FOXP2 gene's known or predicted involvement in human disease.

Defects in FOXP2 are the cause of speech-language disorder 1 (SPCH1)[1]This link leads to a site outside Genetics Home Reference.; also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Affected individuals have a severe impairment in the selection and sequencing of fine orofacial movements, which are necessary for articulation. They also show deficits in several facets of language processing (such as the ability to break up words into their constituent phonemes) and grammatical skills.

Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the FOXP2 gene.
  • Speech-language disorder-1[1]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]602081This link leads to a site outside Genetics Home Reference.SPEECH-LANGUAGE DISORDER 1
605317This link leads to a site outside Genetics Home Reference.FORKHEAD BOX P2

Where is the FOXP2 gene located?

Cytogenetic Location: 7q31

Molecular Location on chromosome 7: base pairs 113,726,364 to 114,333,826

The FOXP2 gene is located on the long (q) arm of chromosome 7 at position 31.

The FOXP2 gene is located on the long (q) arm of chromosome 7 at position 31.

More precisely, the FOXP2 gene is located from base pair 113,726,364 to base pair 114,333,826 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about FOXP2?

You and your healthcare professional may find the following resources about FOXP2 helpful.

  • Gene TestsThis link leads to a site outside Genetics Home Reference. - DNA tests ordered by healthcare professionals

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

What other names do people use for the FOXP2 gene or gene products?

  • CAGH44
  • DKFZp686H1726
  • SPCH1
  • TNRC10

See How are genetic conditions and genes named? in the Handbook.

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 FOXP2?

articulation ; autosomal ; autosomal dominant ; cardiovascular ; differentiation ; DNA ; domain ; dyspraxia ; epithelium ; expressed ; gastrointestinal ; gene ; genome ; human genome ; isoforms ; mediating ; mutation ; promoter ; protein ; repressor ; sequencing ; tissue ; transcript ; transcription ; transcription factor ; translocation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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.

 
Published: May 21, 2012