|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CAGH44
gptkb:DFN7
gptkb:SPCH1
gptkb:TNRC10
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
speech and language development
|
|
gptkbp:chromosomeArm
|
7q31
|
|
gptkbp:contains
|
forkhead box domain
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:encodes
|
gptkb:FOXP2_protein
|
|
gptkbp:Entrez_Gene_ID
|
93986
|
|
gptkbp:evolutionarySignificance
|
human speech evolution
|
|
gptkbp:expressedIn
|
gptkb:cancer
brain
heart
gut
|
|
gptkbp:firstDescribed
|
gptkb:Simon_E._Fisher
gptkb:Anthony_P._Monaco
|
|
gptkbp:HGNC_ID
|
HGNC:3818
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FOXP2 gene
|
|
gptkbp:length
|
603,682 base pairs
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
|
|
gptkbp:memberOf
|
gptkb:FOXP_gene_family
|
|
gptkbp:mutationAssociatedWith
|
deletion
missense mutation
nonsense mutation
speech-language disorder
|
|
gptkbp:mutationFoundIn
|
gptkb:KE_family
|
|
gptkbp:numberOfExons
|
17
|
|
gptkbp:OMIM
|
605317
|
|
gptkbp:orthologIn
|
gptkb:lion
gptkb:mouse
Songbird
|
|
gptkbp:regulates
|
gptkb:MET_gene
gptkb:CNTNAP2_gene
gptkb:DISC1_gene
gptkb:PLAUR_gene
gptkb:SLC17A6_gene
gptkb:SLC17A7_gene
gptkb:SLC17A8_gene
gptkb:SLC1A1_gene
gptkb:SLC1A2_gene
gptkb:SLC1A3_gene
gptkb:SLC1A4_gene
gptkb:SLC1A5_gene
gptkb:SLC1A6_gene
gptkb:SLC1A7_gene
gptkb:SLC6A3_gene
gptkb:SRPX2_gene
gptkb:synaptic_plasticity
gptkb:EGR1_gene
gptkb:VLDLR_gene
yes
neural development
|
|
gptkbp:relatedTo
|
gptkb:autism_spectrum_disorder
schizophrenia
intellectual disability
language impairment
developmental verbal dyspraxia
|
|
gptkbp:UniProtID
|
O15409
|
|
gptkbp:bfsParent
|
gptkb:The_Origin_of_Speech
|
|
gptkbp:bfsLayer
|
7
|