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FLASH GENE
Symbol FOXP2 contributors: mct/npt/pgu/shn - updated : 09-11-2018
HGNC name forkhead box P2
HGNC id 13875
ASSOCIATED DISORDERS
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
Susceptibility
  • 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
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • 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