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FOXP2 Gene

protein-coding   GIFtS: 58
GCID: GC07P113649

Forkhead Box P2


(Previous symbols: TNRC10, SPCH1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Forkhead Box P21 2     Forkhead/Winged-Helix Transcription Factor1 2
TNRC101 2 3 5     Trinucleotide Repeat Containing 101 2
CAG Repeat Protein 441 2 3     Trinucleotide Repeat-Containing Gene 10 Protein2 3
SPCH11 2 5     Speech And Language Disorder 11
CAGH442 3 5     Forkhead Box Protein P22

External Ids:    HGNC: 138751   Entrez Gene: 939862   Ensembl: ENSG000001285737   OMIM: 6053175   UniProtKB: O154093   

Export aliases for FOXP2 gene to outside databases

Previous GC identifers: GC07P112532 GC07P112204 GC07P113468 GC07P113482 GC07P113609 GC07P113842 GC07P108089


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 speech disorder, and 7q31 microdeletion syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXP4.

UniProtKB/Swiss-Prot: FOXP2_HUMAN, O15409
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 Wiki entry for FOXP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXP2 gene promoter:
         FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FOXP2 promoter sequence
   Search Chromatin IP Primers for FOXP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q31

FOXP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXP2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P113649:  view genomic region     (about GC identifiers)

Start:
113,726,365 bp from pter      End:
114,333,827 bp from pter
Size:
607,463 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 113,121,523-113,729,058     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for FOXP2

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FOXP2_HUMAN, O15409 (See protein sequence)
Recommended Name: Forkhead box protein P2  
Size: 715 amino acids; 79919 Da
Subunit: Forms homodimers and heterodimers with FOXP1 and FOXP4. Dimerization is required for DNA-binding.
Interacts with CTBP1 (By similarity)
Developmental stage: Expressed in the brain at 15 and 22 weeks of gestation, with a pattern of strong cortical,
basal ganglia, thalamic and cerebellar expression. Highly expressed in the head and tail of nucleus caudatus and
putamen. Restricted expression within the globus pallidus, with high levels in the pars interna, which provides
the principal source of output from the basal ganglia to the nucleus centrum medianum thalami (CM) and the major
motor relay nuclei of the thalamus. In the thalamus, present in the CM and nucleus medialis dorsalis thalami.
Lower levels are observed in the nuclei anterior thalami, dorsal and ventral, and the nucleus parafascicularis
thalami. Expressed in the ventrobasal complex comprising the nucleus ventralis posterior lateralis/medialis. The
ventral tier of the thalamus exhibits strong expression, including nuclei ventralis anterior, lateralis and
posterior lateralis pars oralis. Also expressed in the nucleus subthalamicus bilaterally and in the nucleus ruber
2 PDB 3D structures from and Proteopedia for FOXP2:
2A07 (3D)        2AS5 (3D)    
Secondary accessions: A0AUV6 A4D0U8 A6NNW4 B4DLD9 Q6ZND1 Q75MJ3 Q8IZE0 Q8N0W2 Q8N6B7 Q8N6B8
Q8NFQ1 Q8NFQ2 Q8NFQ3 Q8NFQ4 Q8TD74
Alternative splicing: 9 isoforms:  O15409-1   O15409-3   O15409-2   O15409-4   O15409-5   O15409-6   O15409-7   O15409-8   
O15409-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FOXP2: NX_O15409

Explore proteomics data for FOXP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FOXP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001166237.1  NP_001166238.1  NP_055306.1  NP_683696.2  NP_683697.2  NP_683698.2  

    ENSEMBL proteins: 
     ENSP00000405470   ENSP00000395552   ENSP00000416825   ENSP00000377132   ENSP00000418100  
     ENSP00000386200   ENSP00000265436   ENSP00000377135   ENSP00000377133   ENSP00000367482  
     ENSP00000377129   ENSP00000353367   ENSP00000409826   ENSP00000375084   ENSP00000385069  
     ENSP00000377130   ENSP00000377137  

    FOXP2 Human Recombinant Protein Products:

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    Novus Biologicals FOXP2 Proteins
    Novus Biologicals FOXP2 Lysate
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    Cloud-Clone Corp. Proteins for FOXP2

    FOXP2 Antibody Products:

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    FOXP2 Assay Products:

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    Cloud-Clone Corp. ELISAs for FOXP2
    Cloud-Clone Corp. CLIAs for FOXP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FOX: Forkhead boxes

    4 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR015880 Znf_C2H2-like
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry O15409

    ProtoNet protein and cluster: O15409

    UniProtKB/Swiss-Prot: FOXP2_HUMAN, O15409
    Domain: The leucine-zipper is required for dimerization and transcriptional repression (By similarity)
    Similarity: Contains 1 C2H2-type zinc finger
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FOXP2_HUMAN, O15409
    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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA16407075
    GO:0003682chromatin binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA18987363
    GO:0005515protein binding ----
    GO:0008301DNA binding, bending IBA--
         
    FOXP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FOXP2:
     Decreased TP53 protein express  Increased gamma-H2AX phosphory 

         Selected MGI mutant phenotypes (inferred from 11 alleles(MGI details for Foxp2) (see all 18):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 

    FOXP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FOXP2: Foxp2tm2.2Woen Foxp2tm1Bux Foxp2tm1.2Sfis

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FOXP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FOXP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FOXP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXP2

    miRNA
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    Block miRNA regulation of human, mouse, rat FOXP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FOXP2 (see all 252):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-579 hsa-miR-640 hsa-miR-1245 hsa-miR-134 hsa-miR-128 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidFOXP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FOXP2
    Predesigned siRNA for gene silencing in human, mouse, rat FOXP2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for FOXP2 (see all 29)
    OriGene ORF clones in mouse, rat for FOXP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): FOXP2 (NM_148898)
    Sino Biological Human cDNA Clone for FOXP2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXP2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FOXP2_HUMAN, O15409: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    mitochondrion2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IBA--

    FOXP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FOXP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for FOXP2
        Wnt / Hedgehog / Notch




    FOXP2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXP2: 
              Stem Cell Transcription Factors in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FOXP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for FOXP2 (O154093 ENSP000003862004) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXP1Q9H3343, ENSP000003189024I2D: score=2 STRING: ENSP00000318902
    FOXP4Q8IVH23, ENSP000003098234I2D: score=2 STRING: ENSP00000309823
    GATAD2BQ8WXI93, ENSP000003576444I2D: score=1 STRING: ENSP00000357644
    CTBP1Q133633, ENSP000002909214I2D: score=1 STRING: ENSP00000290921
    NFATC2ENSP000003793304STRING: ENSP00000379330
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0002053positive regulation of mesenchymal cell proliferation IBA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007389pattern specification process IBA--

    FOXP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FOXP2

    Selected Novoseek inferred chemical compound relationships for FOXP2 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 56.9 8 15641016 (1), 12707257 (1), 17408630 (1), 15087469 (1) (see all 8)
    ly294002 56.5 1 12835226 (1)
    glycogen 49.4 17 12941797 (1), 15494423 (1), 20439192 (1), 19533653 (1) (see all 17)
    wortmannin 49.3 2 12835226 (1), 17935137 (1)
    phosphoinositide 48.4 2 14966295 (2)
    nicotinamide 41.7 3 19783937 (1), 16611073 (1), 15353303 (1)
    rapamycin 38.4 7 15641016 (1), 15494423 (1), 19533653 (1), 12782577 (1) (see all 7)
    glutamine 26 7 15108192 (1), 19332160 (1), 11586359 (1), 15737702 (1) (see all 7)
    alanine 18.5 3 16407075 (1), 15591279 (1)
    calcium 2.09 1 15627815 (1)



    FOXP2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FOXP2 gene (6 alternative transcripts): 
    NM_001172766.2  NM_001172767.2  NM_014491.3  NM_148898.3  NM_148899.3  NM_148900.3  

    Unigene Cluster for FOXP2:

    Forkhead box P2
    Hs.282787  [show with all ESTs]
    Unigene Representative Sequence: NM_148898
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000412402(uc003vgv.1) ENST00000440349(uc003vgt.2) ENST00000441290
    ENST00000495516 ENST00000393494 ENST00000462331 ENST00000408937(uc003vgu.3 uc003vgz.3 uc003vha.3 uc011kmv.2 uc003vhb.3 uc010ljz.2)
    ENST00000350908 ENST00000393498 ENST00000393495 ENST00000459666(uc003vgw.3)
    ENST00000378237(uc003vgx.2) ENST00000393489(uc003vhe.1) ENST00000360232(uc003vhd.3)
    ENST00000452963 ENST00000390668(uc003vhc.3) ENST00000403559(uc011kmu.2)
    ENST00000393491

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FOXP2 (see all 252):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-579 hsa-miR-640 hsa-miR-1245 hsa-miR-134 hsa-miR-128 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidFOXP2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 6): FOXP2 (NM_148898)
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      QuantiTect SYBR Green Assays in human, mouse, rat FOXP2
      QuantiFast Probe-based Assays in human, mouse, rat FOXP2

    Additional mRNA sequence: 

    AF086040.1 AF337817.1 AF454830.1 AF467252.1 AF467253.1 AF467254.1 AF467255.1 AF467256.1 
    AF467258.1 AF467259.1 AF493430.1 AK131266.1 AK296957.1 AY144615.1 BC126104.1 BC143866.1 
    BC143867.1 DQ778626.1 NR_033766.1 NR_033767.1 

    17 DOTS entries:

    DT.307311  DT.100746249  DT.100023237  DT.99973838  DT.65286658  DT.100023238  DT.95110311  DT.436632 
    DT.99936155  DT.100023235  DT.121075350  DT.40223136  DT.92067451  DT.92042535  DT.95150976  DT.100023234 
    DT.121075225 

    Selected AceView cDNA sequences (see all 42):

    AF337817 BM701645 NM_148900 AF467253 BU521502 AF467255 AF086040 NM_148899 
    CB410681 BX280996 N21118 CB118125 NM_014491 AF467257 AF454830 NM_148898 
    CB410682 BP871788 AY144615 AK131266 AF467252 BC018016 CR749236 AF493430 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FOXP2 expression in normal human tissues (normalized intensities)      FOXP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGGTCAG
    FOXP2 Expression
    About this image


    FOXP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Alveolar Progenitor Cells Terminal Sacs
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
    FOXP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FOXP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282787

    UniProtKB/Swiss-Prot: FOXP2_HUMAN, O15409
    Tissue specificity: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXP2: 
              Stem Cell Transcription Factors in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FOXP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FOXP2
    QuantiTect SYBR Green Assays in human, mouse, rat FOXP2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FOXP2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxp25 forkhead box P2   --   6 (6.49 cM) 14901388 
    chicken
    (Gallus gallus)
    Aves FOXP26
    Uncharacterized protein
    99(a)
    1 ↔ 1
    1(25847642-26191414)
    lizard
    (Anolis carolinensis)
    Reptilia FOXP26
    forkhead box P2
    91(a)
    1 ↔ 1
    5(59136066-59503430)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia foxp21 forkhead box P2 85.81(n)
    92.79(a)
      100101742  NM_001100252.1  NP_001093722.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.137652 Transcribed sequence with moderate similarity to protein more 73.59(n)    BI705194.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG168993 transcription factor 74(a)   85E5   --
    worm
    (Caenorhabditis elegans)
    Secernentea fkh-76
    fkh-86
    Protein FKH-7, isoform a (fkh-7) mRNA, complete cd...
    Protein FKH-8, isoform a (fkh-8) mRNA, complete cd...
    24(a)
    24(a)
    many ↔ many
    many ↔ many
    IV(5584661-5610364) WBGene00001439
    II(6189580-6191402) WBGene00001440


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FOXP2 gene
    FOXP42  FOXP32  FOXP12  
    15 SIMAP similar genes for FOXP2 using alignment to 13 protein entries:     FOXP2_HUMAN (see all proteins):
    DKFZp686H1726    hFKHLB    DKFZp762O213    QRICH2    CCDC171    EDRF1
    UBIAD1    FOXP4    FOXP1    FOXJ3    FOXL1    FOXN4
    FOXC2    FOXN3    FOXP3

    FOXP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FOXP2 (see all 10060)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0122784
    Speech-language disorder 1 (SPCH1)4--see VAR_0122782 R H mis40--------
    rs624680541,2
    C,F--108087789(+) AGATTC/GGGATT 1 -- us2k13Minor allele frequency- G:0.03NA WA 240
    rs356537551,2
    C--108138190(+) GTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs347691991,2
    C--108141871(+) TTTTTT/-GAAAC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs340296071,2
    C--108165030(+) ATAGTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs711575671,2
    C--108179804(-) GAGAG-/GAAGAGA 1 -- int11Minor allele frequency- GA:0.00NA 2
    rs58866981,2
    C,F--108325943(+) ATTCCT/-TTTTT 1 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs355653531,2
    C--108348244(+) TCCCT-/CCTCTA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs58867011,2
    C--108349260(+) TGAAG-/TTACT 
            
    TTACT
    1 -- int10--------
    rs1491190451,2
    C--108353900(+) GTGTC-/TGTGTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for FOXP2 (113726365 - 113976365 bp, first 250kb of FOXP2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FOXP2 (see all 25):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4263CNV Deletion18987735
    esv2735050CNV Deletion23290073
    esv2735049CNV Deletion23290073
    esv2355906CNV Deletion18987734
    esv2677382CNV Deletion23128226
    esv2606618CNV Deletion19546169
    esv273175CNV Insertion20981092
    esv1007485CNV Insertion20482838
    nsv5913CNV Insertion18451855
    esv1301656CNV Insertion17803354

    Human Gene Mutation Database (HGMD): FOXP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FOXP2
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605317   
    OMIM disorders: 602081  
    UniProtKB/Swiss-Prot: FOXP2_HUMAN, O15409
  • 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. 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)

  • Selected diseases for FOXP2 (see all 51):    About MalaCards
    speech disorder    7q31 microdeletion syndrome    childhood apraxia of speech    blepharophimosis, ptosis, and epicanthus inversus syndrome
    blepharophimosis    pervasive developmental disorder    bamforth-lazarus syndrome    hypertonia
    axenfeld-rieger syndrome    primary progressive aphasia    apraxia    aphasia
    dyslexia    developmental disabilities    autistic disorder    lymphedema
    premature ovarian failure    attention deficit hyperactivity disorder    autism spectrum disorder    was-related disorders

    9 diseases from the University of Copenhagen DISEASES database for FOXP2:
    blepharophimosis, ptosis, and epicanthus inversus syndrome     Language disorder     Blepharophimosis     Premature ovarian failure
    Speech disorder     Autistic disorder     Dyslexia     Bamforth-Lazarus syndrome
    Lymphedema

    FOXP2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for FOXP2 gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    language disorders 86.8 29 17196932 (3), 12655497 (2), 12746395 (2), 12876151 (1) (see all 22)
    specific language impairment 81.8 19 15877281 (2), 12746395 (2), 17330859 (2), 11894222 (2) (see all 13)
    blepharophimosis 79 4 11175772 (1), 19010791 (1), 20429427 (1), 19747961 (1)
    ovarian failure premature 74.6 4 15059956 (1), 17360647 (1), 19429596 (1), 19010791 (1)
    epicanthus 70 2 11175772 (1), 19747961 (1)
    dyspraxia verbal 67.2 2 15877281 (1), 16984964 (1)
    speech disorders 54.5 5 15056695 (2), 12815709 (1), 16407075 (1), 20429420 (1)
    developmental disabilities 51.5 2 12876151 (1), 11175772 (1)
    communication disorders 51.2 3 16787893 (1), 16984964 (1), 16470794 (1)
    autistic 42.6 8 12655497 (2), 15737702 (2), 15108192 (1), 17330859 (1) (see all 5)

    Genetic Association Database (GAD): FOXP2
    Human Genome Epidemiology (HuGE) Navigator: FOXP2 (21 documents)

    Export disorders for FOXP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FOXP2 gene, integrated from 10 sources (see all 278):
    (articles sorted by number of sources associating them with FOXP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A forkhead-domain gene is mutated in a severe speech and language disorder. (PubMed id 11586359)1, 2, 3, 9 Lai C.S.L.... Monaco A.P. (Nature 2001)
    2. cDNAs with long CAG trinucleotide repeats from human brain. (PubMed id 9225980)1, 2, 3 Margolis R.L.... Ross C.A. (Hum. Genet. 1997)
    3. FOXP2: novel exons, splice variants, and CAG repeat length stability. (PubMed id 12189486)1, 2, 9 Bruce H.A. and Margolis R.L. (Hum. Genet. 2002)
    4. Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients. (PubMed id 15737702)1, 4, 9 Li H....Momoi M.Y. (amp 2005)
    5. Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction. (PubMed id 15056695)1, 2, 9 Teramitsu I.... White S.A. (J. Neurosci. 2004)
    6. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. (PubMed id 12655497)1, 4, 9 Gauthier J....Rouleau G.A. (Am. J. Med. Genet. A 2003)
    7. Molecular evolution of FOXP2, a gene involved in speech and language. (PubMed id 12192408)1, 2, 9 Enard W.... Paeaebo S. (Nature 2002)
    8. Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations. (PubMed id 16538183)1, 4, 9 SanjuA!n J....de Frutos R. (Psychiatr. Genet. 2006)
    9. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)1, 4, 9 Laroche F....Robel L. (Psychiatr. Genet. 2008)
    10. No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. (PubMed id 15998549)1, 4, 9 Marui T....Sasaki T. (Neurosci. Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 93986 HGNC: 13875 AceView: FOXP2 Ensembl:ENSG00000128573 euGenes: HUgn93986
    ECgene: FOXP2 H-InvDB: FOXP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FOXP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXP2 Genetics and Cytogenetics in Oncology and Haematology
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/051
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FOXP2[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/FOXP2

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FOXP2 gene:
    Search GeneIP for patents involving FOXP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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