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Aliases for FOXP2 Gene

Aliases for FOXP2 Gene

  • Forkhead Box P2 2 3
  • CAG Repeat Protein 44 2 3 4
  • TNRC10 3 4 6
  • CAGH44 3 4 6
  • Trinucleotide Repeat-Containing Gene 10 Protein 3 4
  • Forkhead/Winged-Helix Transcription Factor 2 3
  • Trinucleotide Repeat Containing 10 2 3
  • SPCH1 3 6
  • Speech And Language Disorder 1 2
  • Forkhead Box Protein P2 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 7q31 microdeletion syndrome and choreoathetosis, hypothyroidism, and neonatal respiratory distress. Among its related pathways are Wnt / Hedgehog / Notch. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is FOXP3.

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

Transcription factor binding sites by QIAGEN in the FOXP2 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FOXP2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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).

    Three dimensional structures from OCA and Proteopedia for FOXP2 Gene

    Alternative splice isoforms for FOXP2 Gene

neXtProt entry for FOXP2 Gene

Proteomics data for FOXP2 Gene at MOPED

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 for FOXP2 Gene

Gene Families for FOXP2 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXP2 Gene

Graphical View of Domain Structure for InterPro Entry

O15409

UniProtKB/Swiss-Prot:

FOXP2_HUMAN :
  • O15409
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:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
GO:0003677 DNA binding IDA 16407075
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 18987363
GO:0005515 protein binding IPI 25027557
genes like me logo Genes that share ontologies with FOXP2: view
genes like me logo Genes that share phenotypes with FOXP2: view

Animal Models for FOXP2 Gene

MGI Knock Outs for FOXP2:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FOXP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 4
cytosol 2
mitochondrion 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FOXP2 Gene

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

Pathways for FOXP2 Gene

SuperPathways for FOXP2 Gene

Superpath 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Stem Cell Transcription Factors in human,mouse,rat
    • T-Cell Anergy & Immune Tolerance in human,mouse,rat

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 --
GO:0007519 skeletal muscle tissue development IEA --
genes like me logo Genes that share ontologies with FOXP2: view

Compounds for FOXP2 Gene

(17) Novoseek inferred chemical compound relationships for FOXP2 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 56.9 8
ly294002 56.5 1
glycogen 49.4 17
wortmannin 49.3 2
phosphoinositide 48.4 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FOXP2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FOXP2

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Sigmoid (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FOXP2 Gene

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 expressions with FOXP2: view

In Situ Assay Products

Orthologs for FOXP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXP2 35
  • 98.83 (n)
  • 99.16 (a)
FOXP2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FOXP2 36
  • 91 (a)
OneToOne
LOC505502 35
  • 95.21 (n)
  • 98.1 (a)
dog
(Canis familiaris)
Mammalia FOXP2 36
  • 99 (a)
OneToOne
LOC482413 35
  • 92.84 (n)
  • 94.8 (a)
mouse
(Mus musculus)
Mammalia Foxp2 16
Foxp2 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXP2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXP2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxp2 35
  • 91.55 (n)
  • 96.76 (a)
chicken
(Gallus gallus)
Aves FOXP2 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXP2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxp2 35
  • 85.81 (n)
  • 92.79 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.13765 35
foxp2 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta FoxP 36
  • 33 (a)
OneToMany
CG16899 37
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea fkh-7 36
  • 24 (a)
ManyToMany
fkh-8 36
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for FOXP2:
  • 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

Paralogs for FOXP2 Gene

genes like me logo Genes that share paralogs with FOXP2: view

Variants for FOXP2 Gene

Sequence variations from dbSNP and Humsavar for FOXP2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs608860 -- 114,694,070(+) ACATG(A/G)TTACT downstream-variant-500B
rs632958 -- 114,678,470(+) GACCC(C/T)CAAGG intron-variant
rs681705 -- 114,684,618(-) TCCTA(A/G)GGTTA intron-variant
rs685489 -- 114,678,392(-) TAATG(A/G)GCTAT intron-variant
rs717233 -- 114,213,034(+) GTCAG(C/T)ATTCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
esv23722 CNV Gain 19812545
nsv5912 CNV Loss 18451855
nsv428184 CNV Loss 18775914
nsv524438 CNV Loss 19592680
esv273175 CNV Insertion 20981092
esv271343 CNV Insertion 20981092
nsv464692 CNV Loss 19166990
nsv889066 CNV Loss 21882294
nsv831101 CNV Gain 17160897
esv1301656 CNV Insertion 17803354
esv2606618 CNV Deletion 19546169
esv2355906 CNV Deletion 18987734
esv4263 CNV Deletion 18987735
esv2735049 CNV Deletion 23290073
esv2677382 CNV Deletion 23128226
dgv236n6 CNV Loss 16902084
esv5844 CNV Loss 19470904
dgv7464n71 CNV Loss 21882294
nsv521910 CNV Loss 19592680
nsv464693 CNV Loss 19166990
esv2735050 CNV Deletion 23290073
nsv5913 CNV Insertion 18451855
esv1007485 CNV Insertion 20482838
nsv365730 CNV Insertion 16902084

Relevant External Links for FOXP2 Gene

HapMap Linkage Disequilibrium report
FOXP2
Human Gene Mutation Database (HGMD)
FOXP2

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

Disorders for FOXP2 Gene

(1) OMIM Diseases for FOXP2 Gene (605317)

UniProtKB/Swiss-Prot

FOXP2_HUMAN
  • 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.
  • Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).

(25) Novoseek inferred disease relationships for FOXP2 Gene

Disease -log(P) Hits PubMed IDs
language disorders 86.8 26
specific language impairment 81.8 18
blepharophimosis 79 4
ovarian failure premature 74.6 4
epicanthus 70 2

Relevant External Links for FOXP2

Genetic Association Database (GAD)
FOXP2
Human Genome Epidemiology (HuGE) Navigator
FOXP2
genes like me logo Genes that share disorders with FOXP2: view

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 23
  2. FOXP2: novel exons, splice variants, and CAG repeat length stability. (PMID: 12189486) Bruce H.A. … Margolis R.L. (Hum. Genet. 2002) 3 4 23
  3. Molecular evolution of FOXP2, a gene involved in speech and language. (PMID: 12192408) Enard W. … Paeaebo S. (Nature 2002) 3 4 23
  4. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. (PMID: 12655497) Gauthier J. … Rouleau G.A. (Am. J. Med. Genet. A 2003) 3 23 48
  5. Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. (PMID: 15056695) Teramitsu I. … White S.A. (J. Neurosci. 2004) 3 4 23

Products for FOXP2 Gene

  • Addgene plasmids for FOXP2

Sources for FOXP2 Gene

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