Entity Details

Primary name FOXP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15409
EntryNameFOXP2_HUMAN
FullNameForkhead box protein P2
TaxID9606
Evidenceevidence at protein level
Length715
SequenceStatuscomplete
DateCreated2001-12-05
DateModified2021-06-02

Ontological Relatives

GenesFOXP2

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0021757 caudate nucleus development
GO:0021758 putamen development
GO:0021987 cerebral cortex development
GO:0033574 response to testosterone
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0050681 androgen receptor binding
GO:0098582 innate vocalization behavior

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001766 Fork head domainDomainDomain
IPR030456 Fork head domain conserved site 2SiteConserved site
IPR032354 FOXP, coiled-coil domainDomainDomain
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
602081 OMIMSpeech-language disorder 1 (SPCH1)A disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech. Affected individuals have severe impairment in the selection and sequencing of fine orofacial movements which are necessary for articulation, and deficits in several facets of grammatical skills and language processing, such as the ability to break up words into their constituent phonemes. The disease is caused by variants affecting the gene represented in this entry.