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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FOXP2 Gene

protein-coding   GIFtS: 57
GCID: GC07P113649

forkhead box P2


(Previous symbols: TNRC10, SPCH1)
 Explore 48 diseases affiliated with
FOXP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FOXP2    

Aliases
for FOXP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Forkhead Box P21 2     CAG Repeat Protein 442 3
CAGH441 2 3 5     Forkhead Box Protein P22
TNRC101 2 3 5     Forkhead/Winged-Helix Transcription Factor2
SPCH11 2 5     Trinucleotide Repeat Containing 102
Trinucleotide Repeat-Containing Gene 10 Protein2 3     

External Ids:    HGNC: 138751   Entrez Gene: 939862   Ensembl: ENSG000001285737   OMIM: 6053175   UniProtKB: O154093   
ORGUL members:         
NONCODE:n409380 n333213 n334605 n409381    

Export aliases for FOXP2 gene to outside databases

Previous GC identifers: GC07P112532 GC07P112204 GC07P113468 GC07P113482 GC07P113609 GC07P113842 GC07P108089


Summaries
for FOXP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FOXP2:
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)

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. Involved in neural mechanisms mediating the
development of speech and language

Gene Wiki entry for FOXP2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FOXP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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)

  • n409380
  • n333213
  • n409381
  • n334605
113726364 114030096 114333827 chr7

Proteins
for FOXP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15409

    • FOXP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000319424   ENSP00000377132  
     ENSP00000418100   ENSP00000386200   ENSP00000265436   ENSP00000377135   ENSP00000367482  
     ENSP00000377129   ENSP00000353367   ENSP00000409826   ENSP00000377133   ENSP00000375084  
     ENSP00000385069   ENSP00000377130   ENSP00000377137  

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    Novus Biologicals FOXP2 Proteins
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    Uscn Proteins for FOXP2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005667transcription factor complex IBA--
    GO:0005737cytoplasm IBA--


    FOXP2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FOXP2

    Protein Domains /
    Families
    for FOXP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FOXP2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_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


    Function
    for FOXP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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. Involved in neural mechanisms mediating the
    development of speech and language

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FOXP2
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    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 plasmid: FOXP2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXP2 

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    Search LifeMap BioReagents cell lines for FOXP2

    In Situ Assay
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    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA16407075
    GO:0003682chromatin binding IBA--
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA18987363
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--


    FOXP2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for FOXP2: Foxp2tm2.2Woen Foxp2tm1Bux Foxp2tm1.2Sfis
         15/18 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  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 

    FOXP2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FOXP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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



    FOXP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FOXP2

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

    5 Interacting proteins for FOXP2 (O154093 ENSP000003862004) via UniProtKB, MINT, STRING, and/or I2D
    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): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002053positive regulation of mesenchymal cell proliferation IBA--
    GO:0007389pattern specification process IBA--
    GO:0007519skeletal muscle tissue development IBA--
    GO:0009790embryo development IBA--
    GO:0009791post-embryonic development IBA--


    FOXP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FOXP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FOXP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FOXP2
    10/17 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FOXP2 

    Transcripts
    for FOXP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000412402(uc003vgv.1) ENST00000440349(uc003vgt.2) ENST00000441290
    ENST00000495516 ENST00000324462 ENST00000393494 ENST00000462331 ENST00000408937(uc003vgu.3 uc003vgz.3 uc003vha.3 uc011kmv.2 uc003vhb.3 uc010ljz.2)
    ENST00000350908 ENST00000393498 ENST00000459666(uc003vgw.3) ENST00000378237(uc003vgx.2)
    ENST00000393489(uc003vhe.1) ENST00000360232(uc003vhd.3) ENST00000452963
    ENST00000393495 ENST00000390668(uc003vhc.3) ENST00000403559(uc011kmu.2)


    miRNA
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    8/252 QIAGEN miScript miRNA 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*
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/42 AceView cDNA sequences (see all 42):

    CB118125 AF337817 AF467253 NM_148898 BM701645 N21118 BX280996 AF454830 
    NM_148899 AF467255 AF086040 BU521502 NM_148900 AF467257 NM_014491 CB410682 
    CB410681 AK131266 BP871788 AY144615 BX481950 BQ948273 AL711700 CR749236 

    GeneLoc Exon Structure


    Expression
    for FOXP2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTGGTCAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FOXP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungAlveoliAlveolar Epithelial Type 2 CellsLung
    LungLung BudDistal Lung Progenitor CellsLung
    LungTerminal SacsAlveolar Progenitor CellsLung
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneAutopod Long BoneBone
    BoneThoracic RibBone
    BrainMedulla OblongataBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Endoderm progenitor-like cells (Generation and expan...)
    Nkx2-1 GFP+ cells (Efficient derivation...)
    Beating cell clusters (Spontaneous differen...)

    See FOXP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXP2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including FOXP2: 
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    Orthologs
    for FOXP2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FOXP2 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FOXP21 forkhead box P2 93.6(n)
    98.87(a)    		   769935  XM_001232321.2  XP_001232322.1 
    lizard
    (Anolis carolinensis)    		 Reptilia FOXP26
    		 --
    		 91(a)
    		 1 ↔ 1
    		 5(59427250-59499579)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.137652 Transcribed sequence with moderate similarity to protein more 73.59(n)    BI705194.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea fkh-76
    fkh-96
    		 ForKHead transcription factor family member (fkh-7...
    ForKHead transcription factor family member (fkh-9...
    		 21(a)
    12(a)
    		 1 ↔ 1
    possible ortholog
    		 IV(5584651-5610353)
    X(3817407-3826944)


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

    Paralogs
    for FOXP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXP2 gene
    FOXJ12  FOXN32  FOXK12  FOXN42  FOXN12  FOXK22  FOXP42  FOXG12  
    FOXJ32  FOXJ22  FOXN22  FOXP32  FOXP12  
    8 SIMAP similar genes for FOXP2 using alignment to 14 protein entries:     FOXP2_HUMAN (see all proteins):
    DKFZp686H1726    hFKHLB    DKFZp762O213    QRICH2    C10orf137    FOXP4
    FOXP1    FOXP3

    FOXP2 for paralogs           About GeneDecksing



    Genomic Variants
    for FOXP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8492 NCBI SNPs in FOXP2 are shown (see all 8492)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs624680541,2
    		--108087789(+) AGATTC/GGGATT 1 -- us2k13Minor allele frequency- G:0.03NA WA 240
    rs133101481,2
    		C--108090470(+) CACCAC/GATGTG 1 -- int10--------
    rs133089221,2
    		H--108137100(+) atgtaG/Aaggtg 1 -- int14Minor allele frequency- A:0.00NS EA 418
    rs7769161,2
    		C,F,H,--108156635(-) TCTAAT/CATGCC 1 -- int17Minor allele frequency- C:0.08NS EA NA WA 540
    rs2016810901,2
    		C--108163179(+) CACTGA/GATTAT 1 -- int10--------
    rs711575761,2
    		C--108258756(-) CATCGC/-CCAGT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs69657841,2
    		C,--108298820(+) aaataA/Cataca 1 -- int10--------
    rs794599261,2
    		--108338893(+) AAAAAA/CCCATA 1 -- int10--------
    rs355653531,2
    		C,--108348245(+) TCCCT-/CCTCTA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs2007538351,2
    		C--108380160(+) ACAAAA/GTTACA 1 -- int10--------

    HapMap Linkage Disequilibrium report for FOXP2 (113726365 - 113976365 bp, first 250kb of FOXP2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOXP2: --
    Human Gene Mutation Database (HGMD): FOXP2

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    Disorders / Diseases
    for FOXP2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FOXP2 for disorders           About GeneDecksing

    OMIM gene information: 605317   
    OMIM disorders: 602081  
    UniProtKB/Swiss-Prot: FOXP2_HUMAN, O15409
  • Defects in FOXP2 are the cause of speech-language disorder 1 (SPCH1) [MIM:602081]; also known as autosomal
    • dominant speech and language disorder with orofacial dyspraxia. Affected individuals have a severe impairment in the
    selection and sequencing of fine orofacial movements, which are necessary for articulation. They also show deficits in
    several facets of language processing (such as the ability to break up words into their constituent phonemes) and
    grammatical skills
  • Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment.
    • Translocation t(5;7)(q22;q31.2)

    20/48 diseases for FOXP2 (see all 48):    About MalaCards
    speech-language disorder    speech-language disorder 1    language disorder    bamforth-lazarus syndrome
    blepharophimosis, ptosis, and epicanthus inversus syndrome    axenfeld-rieger syndrome    pervasive developmental disorder    communication disorder
    speech disorder    developmental disabilities    peters anomaly    blepharophimosis
    autism spectrum disorder    premature ovarian failure    insulin resistance    apraxia
    hypertonia    autistic disorder    acute myeloid leukemia    glaucoma

    8 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

    10/25 Novoseek 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

    Publications
    for FOXP2 gene

    (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)
    About This Section

    PubMed articles for FOXP2 gene, integrated from 9 sources (see all 267):
    (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. (2001)
    2. cDNAs with long CAG trinucleotide repeats from human brain. (PubMed id 9225980)1, 2, 3 Margolis R.L.... Ross C.A. (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. (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. (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. (2004)
    6. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. (PubMed id 12655497)1, 4, 9 Gauthier J....Rouleau G.A. (2003)
    7. Molecular evolution of FOXP2, a gene involved in speech and language. (PubMed id 12192408)1, 2, 9 Enard W.... Paeaebo S. (2002)
    8. No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population. (PubMed id 15998549)1, 4, 9 Marui T....Sasaki T. (2005)
    9. FOXP2 polymorphisms in patients with schizophrenia. (PubMed id 15653268)1, 4, 9 Sanjuan J....de Frutos R. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    External Searches for FOXP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FOXP2 gene

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

    Other Databases showing FOXP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FOXP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sptlt051.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXP2
    Wikipedia http://en.wikipedia.org/wiki/FOXP2

    Intellectual Property
    for FOXP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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