|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:FOXP2
gptkb:SPCH1
|
|
gptkbp:associatedWith
|
speech and language development
|
|
gptkbp:discoveredBy
|
gptkb:Simon_E._Fisher
|
|
gptkbp:domain
|
forkhead box domain
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000128573
|
|
gptkbp:evolutionarySignificance
|
human speech evolution
vocal learning in birds
|
|
gptkbp:expressedIn
|
gptkb:cancer
brain
heart
|
|
gptkbp:firstDescribed
|
2001
|
|
gptkbp:foundIn
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
|
|
gptkbp:function
|
transcription factor
neural development
regulation of gene expression
|
|
gptkbp:gene
|
gptkb:FOXP2
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:3818
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Forkhead box protein P2
|
|
gptkbp:interactsWith
|
gptkb:FOXP1
gptkb:FOXP4
|
|
gptkbp:length
|
715 amino acids
|
|
gptkbp:locatedOnChromosome
|
7q31
|
|
gptkbp:molecularWeight
|
~80 kDa
|
|
gptkbp:mutationAssociatedWith
|
cognitive deficits
speech-language disorder-1
impaired speech
impaired language
orofacial dyspraxia
|
|
gptkbp:OMIM
|
605317
|
|
gptkbp:orthologIn
|
birds
mammals
reptiles
|
|
gptkbp:PDB
|
2A07
|
|
gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
|
|
gptkbp:regulates
|
gptkb:CNTNAP2
gptkb:DISC1
gptkb:SRPX2
|
|
gptkbp:related_disorder
|
developmental verbal dyspraxia
autism spectrum disorder (implicated)
schizophrenia (implicated)
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:transcriptional_activator
|
true
|
|
gptkbp:transcriptional_repressor
|
true
|
|
gptkbp:UniProtID
|
O15409
|
|
gptkbp:bfsParent
|
gptkb:FOXP2
|
|
gptkbp:bfsLayer
|
7
|