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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL7Q31 , SPCH1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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