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Aliases for FOXP2 Gene

Aliases for FOXP2 Gene

  • Forkhead Box P2 2 3 5
  • CAG Repeat Protein 44 2 3 4
  • Trinucleotide Repeat-Containing Gene 10 Protein 3 4
  • Forkhead/Winged-Helix Transcription Factor 2 3
  • Trinucleotide Repeat Containing 10 2 3
  • TNRC10 3 4
  • CAGH44 3 4
  • Speech And Language Disorder 1 2
  • Forkhead Box Protein P2 3
  • SPCH1 3

External Ids for FOXP2 Gene

Previous HGNC Symbols for FOXP2 Gene

  • TNRC10
  • SPCH1

Previous GeneCards Identifiers for FOXP2 Gene

  • GC07P112532
  • GC07P112204
  • GC07P113468
  • GC07P113482
  • GC07P113609
  • GC07P113649
  • GC07P113842
  • GC07P108089

Summaries for FOXP2 Gene

Entrez Gene Summary for FOXP2 Gene

  • 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]

GeneCards Summary for FOXP2 Gene

FOXP2 (Forkhead Box P2) is a Protein Coding gene. Diseases associated with FOXP2 include Childhood Apraxia Of Speech and Speech And Communication Disorders. Among its related pathways are Wnt / Hedgehog / Notch. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is FOXP1.

UniProtKB/Swiss-Prot for FOXP2 Gene

  • 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.

Gene Wiki entry for FOXP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXP2 Gene

Genomics for FOXP2 Gene

Regulatory Elements for FOXP2 Gene

Enhancers for FOXP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F114392 0.2 ENCODE 14.7 +306.5 306546 1.7 ZNF558 FOXP2 GC07P114415 RPL36P13
GH07F114047 1.2 FANTOM5 Ensembl ENCODE 11.7 -37.9 -37872 1.5 IRF2 STAT1 MAFG STAT3 PRDM10 IRF1 PPP1R3A FOXP2 PIR51900
GH07F114051 1.5 FANTOM5 Ensembl ENCODE 11.7 -34.0 -33997 1.4 MTA2 IKZF1 BMI1 TBX21 SPI1 PPP1R3A FOXP2 PIR51900
GH07F114026 0.6 ENCODE 11.3 -59.6 -59630 0.2 CTCF ZNF654 SMC3 RAD21 FOXP2 PPP1R3A PIR51900
GH07F114156 0.7 ENCODE 11 +70.1 70063 0.1 FOXP2 GC07P114141 GC07M114246
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FOXP2 on UCSC Golden Path with GeneCards custom track

Promoters for FOXP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000312609 -10 4600 PKNOX1 ZNF493 ZNF133 FEZF1 GLI4 BRCA1 ZNF2 YY1 GLIS2 KLF7

Genomic Location for FOXP2 Gene

Chromosome:
7
Start:
114,086,310 bp from pter
End:
114,693,772 bp from pter
Size:
607,463 bases
Orientation:
Plus strand

Genomic View for FOXP2 Gene

Genes around FOXP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXP2 Gene

Proteins for FOXP2 Gene

  • Protein details for FOXP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15409-FOXP2_HUMAN
    Recommended name:
    Forkhead box protein P2
    Protein Accession:
    O15409
    Secondary Accessions:
    • A0AUV6
    • A4D0U8
    • A6NNW4
    • B4DLD9
    • Q6ZND1
    • Q75MJ3
    • Q8IZE0
    • Q8N0W2
    • Q8N6B7
    • Q8N6B8
    • Q8NFQ1
    • Q8NFQ2
    • Q8NFQ3
    • Q8NFQ4
    • Q8TD74

    Protein attributes for FOXP2 Gene

    Size:
    715 amino acids
    Molecular mass:
    79919 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with FOXP1 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1 (By similarity). Interacts with FOXP1 (PubMed:26647308).

    Three dimensional structures from OCA and Proteopedia for FOXP2 Gene

    Alternative splice isoforms for FOXP2 Gene

neXtProt entry for FOXP2 Gene

Post-translational modifications for FOXP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FOXP2 (FOXP2)

No data available for DME Specific Peptides for FOXP2 Gene

Domains & Families for FOXP2 Gene

Gene Families for FOXP2 Gene

Protein Domains for FOXP2 Gene

Graphical View of Domain Structure for InterPro Entry

O15409

UniProtKB/Swiss-Prot:

FOXP2_HUMAN :
  • The leucine-zipper is required for dimerization and transcriptional repression.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • The leucine-zipper is required for dimerization and transcriptional repression.
  • Contains 1 fork-head DNA-binding domain.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with FOXP2: view

Function for FOXP2 Gene

Molecular function for FOXP2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for FOXP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA,IDA 16407075
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,IDA 18987363
genes like me logo Genes that share ontologies with FOXP2: view
genes like me logo Genes that share phenotypes with FOXP2: view

Human Phenotype Ontology for FOXP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FOXP2 Gene

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FOXP2 Gene

Localization for FOXP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXP2 Gene COMPARTMENTS Subcellular localization image for FOXP2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FOXP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
genes like me logo Genes that share ontologies with FOXP2: view

Pathways & Interactions for FOXP2 Gene

SuperPathways for FOXP2 Gene

SuperPathway Contained pathways
1 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with FOXP2: view

Pathways by source for FOXP2 Gene

1 Cell Signaling Technology pathway for FOXP2 Gene

Gene Ontology (GO) - Biological Process for FOXP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007519 skeletal muscle tissue development IEA --
genes like me logo Genes that share ontologies with FOXP2: view

No data available for SIGNOR curated interactions for FOXP2 Gene

Drugs & Compounds for FOXP2 Gene

(11) Drugs for FOXP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for FOXP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FOXP2: view

Transcripts for FOXP2 Gene

Unigene Clusters for FOXP2 Gene

Forkhead box P2:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXP2 Gene

No ASD Table

Relevant External Links for FOXP2 Gene

GeneLoc Exon Structure for
FOXP2
ECgene alternative splicing isoforms for
FOXP2

Expression for FOXP2 Gene

mRNA expression in normal human tissues for FOXP2 Gene

mRNA differential expression in normal tissues according to GTEx for FOXP2 Gene

This gene is overexpressed in Colon - Sigmoid (x6.2).

Protein differential expression in normal tissues from HIPED for FOXP2 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FOXP2 Gene



Protein tissue co-expression partners for FOXP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FOXP2 Gene:

FOXP2

SOURCE GeneReport for Unigene cluster for FOXP2 Gene:

Hs.282787

mRNA Expression by UniProt/SwissProt for FOXP2 Gene:

O15409-FOXP2_HUMAN
Tissue specificity: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.
genes like me logo Genes that share expression patterns with FOXP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FOXP2 Gene

Orthologs for FOXP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXP2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Foxp2 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXP2 35
  • 99 (a)
OneToOne
LOC482413 34
  • 92.84 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXP2 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOXP2 34 35
  • 98.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FOXP2 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC505502 34
  • 95.21 (n)
FOXP2 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxp2 34
  • 91.55 (n)
chicken
(Gallus gallus)
Aves FOXP2 35
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXP2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxp2 34
  • 85.81 (n)
zebrafish
(Danio rerio)
Actinopterygii foxp2 35
  • 82 (a)
OneToOne
Dr.13765 34
fruit fly
(Drosophila melanogaster)
Insecta CG16899 36
  • 74 (a)
FoxP 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fkh-7 35
  • 24 (a)
ManyToMany
fkh-8 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for FOXP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FOXP2 Gene

ENSEMBL:
Gene Tree for FOXP2 (if available)
TreeFam:
Gene Tree for FOXP2 (if available)

Paralogs for FOXP2 Gene

Variants for FOXP2 Gene

Sequence variations from dbSNP and Humsavar for FOXP2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121908377 Speech-language disorder 1 (SPCH1) [MIM:602081], Pathogenic 114,662,075(+) AGTAC(A/G)TCATA nc-transcript-variant, reference, missense
rs121908378 Pathogenic 114,642,616(+) CAAGA(C/T)GAGAC nc-transcript-variant, reference, stop-gained
rs201649896 Pathogenic 114,426,561(+) GAATC(A/T)AAATG nc-transcript-variant, reference, missense
rs766476648 Pathogenic 114,663,469(+) TAAAA(A/C)ATATA nc-transcript-variant, reference, missense
rs786200976 Pathogenic 114,631,608(+) AACAA(-/A)CTCCA nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for FOXP2 Gene

Variant ID Type Subtype PubMed ID
dgv11584n54 CNV loss 21841781
dgv1952e212 CNV loss 25503493
dgv236n6 CNV deletion 16902084
dgv3648n106 CNV deletion 24896259
esv1007485 CNV insertion 20482838
esv1301656 CNV insertion 17803354
esv2355906 CNV deletion 18987734
esv23722 CNV gain 19812545
esv2606618 CNV deletion 19546169
esv2677382 CNV deletion 23128226
esv2735049 CNV deletion 23290073
esv2735050 CNV deletion 23290073
esv3307067 CNV mobile element insertion 20981092
esv3308902 CNV mobile element insertion 20981092
esv3324987 CNV insertion 20981092
esv3350051 CNV insertion 20981092
esv3357991 CNV insertion 20981092
esv3376369 CNV insertion 20981092
esv3441091 CNV insertion 20981092
esv3542307 CNV deletion 23714750
esv3572081 CNV loss 25503493
esv3572082 CNV loss 25503493
esv4263 CNV loss 18987735
esv5844 CNV loss 19470904
nsv1124259 CNV deletion 24896259
nsv1144197 CNV deletion 24896259
nsv365730 CNV insertion 16902084
nsv428184 CNV loss 18775914
nsv464692 CNV loss 19166990
nsv464693 CNV loss 19166990
nsv477054 CNV novel sequence insertion 20440878
nsv478518 CNV novel sequence insertion 20440878
nsv521910 CNV loss 19592680
nsv524438 CNV loss 19592680
nsv5912 CNV deletion 18451855
nsv5913 CNV insertion 18451855
nsv608230 CNV gain 21841781
nsv608231 CNV loss 21841781
nsv608232 CNV loss 21841781
nsv608233 CNV loss 21841781
nsv608237 CNV loss 21841781
nsv7405 OTHER inversion 18451855
nsv831101 CNV gain 17160897
nsv957604 CNV deletion 24416366

Variation tolerance for FOXP2 Gene

Residual Variation Intolerance Score: 6.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXP2 Gene

Human Gene Mutation Database (HGMD)
FOXP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXP2 Gene

Disorders for FOXP2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for FOXP2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
childhood apraxia of speech
  • articulatory apraxia
speech and communication disorders
  • communication disorder
specific language impairment
7q31 microdeletion syndrome
  • del(7)(q31)
speech disorder
  • speech disorders
- elite association - COSMIC cancer census association via MalaCards
Search FOXP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXP2_HUMAN
  • Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).
  • 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:0000269 PubMed:11586359}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FOXP2

Genetic Association Database (GAD)
FOXP2
Human Genome Epidemiology (HuGE) Navigator
FOXP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXP2
genes like me logo Genes that share disorders with FOXP2: view

No data available for Genatlas for FOXP2 Gene

Publications for FOXP2 Gene

  1. A forkhead-domain gene is mutated in a severe speech and language disorder. (PMID: 11586359) Lai C.S.L. … Monaco A.P. (Nature 2001) 2 3 4 22 64
  2. A functional genetic link between distinct developmental language disorders. (PMID: 18987363) Vernes S.C. … Fisher S.E. (N. Engl. J. Med. 2008) 3 22 46 64
  3. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PMID: 19018235) Laroche F. … Robel L. (Psychiatr. Genet. 2008) 3 22 46 64
  4. Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations. (PMID: 16538183) SanjuA!n J. … de Frutos R. (Psychiatr. Genet. 2006) 3 22 46 64
  5. No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. (PMID: 15998549) Marui T. … Sasaki T. (Neurosci. Res. 2005) 3 22 46 64

Products for FOXP2 Gene

Sources for FOXP2 Gene

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