Aliases for FOXP2 Gene
External Ids for FOXP2 Gene
Previous HGNC Symbols for FOXP2 Gene
Previous GeneCards Identifiers for FOXP2 Gene
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]
GeneCards Summary for FOXP2 Gene
FOXP2 (Forkhead Box P2) is a Protein Coding gene. Diseases associated with FOXP2 include Childhood Apraxia Of Speech and Speech And Communication Disorders. Among its related pathways are Pathways Affected in Adenoid Cystic Carcinoma and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is FOXP4.
UniProtKB/Swiss-Prot Summary for FOXP2 Gene
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. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.