InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FOXP2

Summary

InnateDB Protein

IDBP-294676.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FOXP2

Protein Name

forkhead box P2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000386200

InnateDB Gene

IDBG-36961 (FOXP2)

Protein Structure

UniProt Annotation

Function

Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Speech-language disorder 1 (SPCH1) [MIM:602081]: 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. {ECO:0000269PubMed:11586359}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).

Tissue Specificity

Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung. {ECO:0000269PubMed:12189486}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0042803	protein homodimerization activity
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007519	skeletal muscle tissue development
GO:0009791	post-embryonic development
GO:0021549	cerebellum development
GO:0021757	caudate nucleus development
GO:0021758	putamen development
GO:0021987	cerebral cortex development
GO:0030324	lung development
GO:0040007	growth
GO:0042297	vocal learning
GO:0043010	camera-type eye development
GO:0045892	negative regulation of transcription, DNA-templated
GO:0048286	lung alveolus development
GO:0048745	smooth muscle tissue development
GO:0050679	positive regulation of epithelial cell proliferation
GO:0060013	righting reflex
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis