Homo sapiens Protein: FOXP2
InnateDB Protein IDBP-294676.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FOXP2
Protein Name forkhead box P2
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}.
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
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
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
InterPro IPR001766 Transcription factor, fork head
PFAM PF00250
Post-translational Modifications
SwissProt O15409
PhosphoSite PhosphoSite-O15409
UniProt Splice Variant
Entrez Gene 93986
UniGene Hs.625149
RefSeq NP_683696
OMIM 605317
HPRD 05611
EMBL AC003992 AC020606 AC073626 AC074000 AC092148 AC092606 AF337817 AF467252 AF467253 AF467254 AF467255 AF467256 AF467257 AF493430 AF515031 AF515032 AF515033 AF515034 AF515035 AF515036 AF515037 AF515038 AF515039 AF515040 AF515041 AF515042 AF515043 AF515044 AF515045 AF515046 AF515047 AF515048 AF515049 AF515050 AK131266 AK296957 AY144615 BC126104 BC143866 CH236947 CH471070 KJ534839 U80741
GenPept AAB91439 AAI26105 AAI43867 AAL10762 AAM13672 AAM60762 AAM60763 AAM60764 AAM60765 AAM60766 AAM60767 AAN03389 AAN03390 AAN03391 AAN03392 AAN03393 AAN03394 AAN03395 AAN03396 AAN03397 AAN03398 AAN03399 AAN03400 AAN03401 AAN03402 AAN03403 AAN03404 AAN03405 AAN03406 AAN03407 AAN03408 AAN60016 AAS07399 AAS07502 AHW56479 BAD18444 BAG59501 EAL24367 EAL24369 EAW83483 EAW83484 EAW83485 EAW83486