Homo sapiens Gene: FOXP2
Summary
InnateDB Gene IDBG-36961.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FOXP2
Gene Name forkhead box P2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000128573
Encoded Proteins
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
forkhead box P2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:114086327-114693772
Strand Forward strand
Band q31.1
Transcripts
ENST00000350908 ENSP00000265436
ENST00000390668 ENSP00000375084
ENST00000360232 ENSP00000353367
ENST00000378237 ENSP00000367482
ENST00000393498 ENSP00000377135
ENST00000393495 ENSP00000377133
ENST00000393494 ENSP00000377132
ENST00000393491 ENSP00000377130
ENST00000393489 ENSP00000377129
ENST00000403559 ENSP00000385069
ENST00000408937 ENSP00000386200
ENST00000412402 ENSP00000405470
ENST00000440349 ENSP00000395552
ENST00000441290 ENSP00000416825
ENST00000452963 ENSP00000409826
ENST00000495516
ENST00000462331 ENSP00000418100
ENST00000459666
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
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.282787 Hs.611513 Hs.625149
RefSeq NM_001172766 NM_001172767 NM_014491 NM_148898 NM_148899 NM_148900 XM_006716179 XM_006716180
HUGO
OMIM
CCDS CCDS43635 CCDS55154 CCDS5760 CCDS5761
HPRD 05611
IMGT
EMBL
GenPept
RNA Seq Atlas