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Symbol FOXP2 contributors: mct/npt/pgu/shn - updated : 09-11-2018
HGNC name forkhead box P2
HGNC id 13875
Corresponding disease
DEL7Q31 chromosome 7q interstitial deletion, including band q31
SPCH1 severe speech-language disorder 1
Location 7q31.1      Physical location : 113.726.364 - 114.333.825
Synonym name
  • trinucleotide repeat containing gene 10
  • trinucleotide repeat-containing gene 10 protein
  • CAG repeat protein 44
  • forkhead/winged-helix transcription factor
  • speech and language disorder 1
  • forkhead box protein P2
  • Synonym symbol(s) SPCH1, TNRC10, CAGH44, DKFZp686H1726
    TYPE functioning gene
    STRUCTURE 607.46 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure
  • two 5 prime exons, alternatively spliced 3a, 3b, another three noncoding exons at the 5 prime end, named S1-CS3, as well as a variety of alternative exons for the 5 prime untranslated region
  • no CAA/CAG repeats
  • two of the transcription start sites, appear to be more cell line specific and lie in an area of remarkably high conservation
  • MAPPING cloned Y linked N status provisional
    Map cen - D7S523 - D7S471 - FOXP2 - D7S2554 - D7S687 - qter
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 6373 79 715 - 2000 10880297
    lacking alternative exons a, b
    18 splicing 6448 81 740 widely 2000 10880297
    including 3b
    9 splicing 1410 - 432 widely 2000 10880297
    including 3a starting point exon 4
    18 splicing 6424 68 732 widely 2000 10880297
    including 3a, 3b, starting point exon 4
    17 splicing 6370 - 714 adult, fetal brain, lung 2000 10880297
  • FOXP2S
  • lack the fk domain
  • 10 - 1485 - 457 - 2000 10880297
    - splicing 6384 - - - -
    transcript variant 7, non-coding RNA
    - splicing 6431 - - - -
    transcript variant 8, non-coding RNA.
    - - - - - . mainly localized to the apical cytoplasmic swelling in early developing Purkinje cells at the stellate stage (P2-P4) . mitochondrial localization of Foxp2Ex12+ in Purkinje cells 2012 21985339
    may play a role in dendritic development in Purkinje cells.
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainbasal nucleistriatum predominantly Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
     braindiencephalonthalamus   Homo sapiens
     brainbasal nucleistriatum predominantly Danio rerio
    cell lineage
    cell lines normal human neuronal progenitor cells, NHNPs
    at STAGE
    physiological period fetal
  • intestinal, cardiovascular tissues
  • preferentially expressed in distinct cell populations in the developing striatum
  • expressed in the developing CNS, including the striatum, cerebral cortex, and thalamus
  • IMPRINTING paternally
    text paternally imprinted in Developmental Verbal Dyspraxia
  • a transcriptional repression domain including a zinc-finger motif in the N-terminal region
  • a nuclear localization signal domains
  • a polyglutamine tract
  • a forkhead (FH, winged helix) domain evolutionally conserved domain of approximately 110 AA, important for both DNA binding ability and nuclear localization, forming a helix-turn-helix DNA binding motif dubbed the winged-helix
  • one C2H2 type zinc finger
    interspecies ortholog to Foxp2, Mus musculus
    ortholog to Foxp2, Rattus norvegicus
    ortholog to foxp2, Danio rerio
    ortholog to FOXP2, Pan troglodytes
    intraspecies homolog to FOXP1
  • forkhead box (FOX) transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    text nuclear localization depended on two distally separated nuclear localization signals in the forkhead domain
    basic FUNCTION
  • involved in neural mechanisms mediating the development of speech and language
  • transcriptional repressor playing an important role in the specification and differentiation of lung epithelium
  • playing a role in the development of corticostriatal and olivocerebellar circuits involved in motor control
  • involved in acquiring human speech/language ability
  • involved in multiple functions not related to higher cognitive functions, including sensorimotor integration and vocal learning in birds and lung development outside the CNS
  • crucial regulator of lung and esophageal development, underscoring the necessity of this transcription factor in the development of anterior foregut-derived tissues
  • implicated in developmental verbal dyspraxia, a speech and language disorder
  • is important for modulating the plasticity of relevant neural circuits
  • FOXP1 and FOXP2 may be involved in the determination of the cell type identities during late embryogenesis
  • has an important role in speech and language in humans, and its targets may have a critical function in the development and evolution of language circuitry
  • in combination with PBX3 and MEIS2, may play a pivotal role in the development of striosomal neurons of the striatum and the islands of Calleja
  • down-regulates both the SRPX2 and the PLAUR genes and this transcriptional regulation is lost when FOXP2 bears a pathogenic p.R553H mutation that is known to cause DVD (developmental verbal dyspraxia)
  • modulates neuronal network formation, by directly and indirectly regulating mRNAs involved in the development and plasticity of neuronal connections
  • FOXP2 might functionally regulate DISC1 expression
  • FOXP2, DISC1 and the NRXN family in a molecular network that, when altered, confers risk for neurodevelopmental conditions in which various aspects of linguistic and cognitive function are disturbed, possibly via aberrant synaptic function
  • implicated in the development of cortico-striatal circuits, which are involved in sensorimotor integration required for vocal motor learning
  • implicated in pathways regulating neurite outgrowth, axon guidance and synaptic plasticity, which is in agreement with a role of FOXP2 in the development of neural circuits for language development
  • CELLULAR PROCESS nucleotide, transcription
    a component
  • FOXP2-SRPX2/PLAUR network provides exciting insights into molecular pathways underlying speech-related disorders
  • 5' regulatory region of MET
  • RNA
    small molecule
  • C-terminal binding protein 1, CTBP1
  • p66beta
  • SRPX2 and the PLAUR
  • POT1
  • FOXP1 may compensate for the loss of FOXP2 and a level of redundancy exists between these two genes
  • cell & other
    corresponding disease(s) DEL7Q31 , SPCH1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional imprinting      
    absence of paternal FOXP2(paternal imprinting) is the cause of developmental verbal dyspraxia in patients with Silver-russel with maternal UPD7
    constitutional       loss of function
    in orofacial dyspraxia, abnormalities in cortex and basal ganglia, expressive and receptive language impairment
  • to SPCH1 and other langage impairment
  • to dyslexia
  • Variant & Polymorphism other
  • nonsense mutation increasing the risk of SPCH1 and other langage impairment
  • role of FOXP2 genetic variants in dyslexia-specific brain activation
  • Candidate gene
    Therapy target
  • mice with a disruption in the Foxp2 display severe motor impairment, premature death, and an absence of ultrasonic vocalizations
  • Foxp2 (R552H) knockin mice showed reduced weight, immature development of the cerebellum with incompletely folded folia, Purkinje cells with poor dendritic arbors and less synaptophysin immunoreactivity, and achieved crisis stage for survival 3 weeks after birth