protein
Forkhead box protein P2
Gene
FOXP2
Organism
Homo sapiens(9606)
Length
715 aa
Mass
79,919 Da
Forkhead box protein P2 (FOXP2) is a transcriptional repressor encoded by the FOXP2 gene that plays critical roles in tissue specification and differentiation (UniProt: O15409). The protein functions in developing neural, gastrointestinal, cardiovascular, and lung epithelial tissues, and can synergistically repress transcription when acting with CTBP1. FOXP2 regulates synapse formation through control of SRPX2 levels and is centrally involved in neural mechanisms underlying speech and language development.
FOXP2 mutations cause Speech-language disorder 1 (SPCH1), characterized by severe orofacial dyspraxia with largely incomprehensible speech, impaired selection and sequencing of fine orofacial movements required for articulation, and deficits in phonemic and grammatical processing (UniProt: O15409). The protein's role in language and motor coordination links it to broader neurodevelopmental function.
FOXP2 carries SFARI Category 2 classification with syndromic association (SFARI Cat 2), indicating evidence for involvement in autism spectrum disorder, particularly in syndromic presentations where language and motor deficits co-occur with autistic features.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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
Disease associations
Speech-language disorder 1SPCH1
A disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes.
Sources
Last updated 5/6/2026, 5:24:07 AM