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

FOXP2 Gene

protein-coding   GIFtS: 60
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)
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     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   
ORGUL members:         
NONCODE14:n333213 n409381 n409380 n334605      

Export aliases for FOXP2 gene to outside databases

Previous GC identifers: GC07P112532 GC07P112204 GC07P113468 GC07P113482 GC07P113609 GC07P113842 GC07P108089


(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 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, and is affiliated with the lncRNA class. Diseases associated with FOXP2 include language disorder, and speech disorder. 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 FOXN3.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  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)

ORGUL Member Locations for FOXP2

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FOXP2 at MOPED 

Post-translational modifications:

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

  • FOXP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FOXP2 Protein Expression
    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  

    Human Recombinant Protein Products for FOXP2: 
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    OriGene Protein Over-expression Lysate for FOXP2
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    Novus Biologicals FOXP2 Proteins
    Novus Biologicals FOXP2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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 IEA--
    GO:0005667transcription factor complex ----
    GO:0005737cytoplasm IBA--

    FOXP2 for ontologies           About GeneDecksing



    FOXP2 Antibody Products: 
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    Abcam antibodies for FOXP2
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    Assay Products for FOXP2: 
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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)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

         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 ----
    GO:0003700sequence-specific DNA binding transcription factor activity IDA18987363
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity ----
         
    FOXP2 for ontologies           About GeneDecksing


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

         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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FOXP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    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*
    SwitchGear 3'UTR luciferase reporter plasmidFOXP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXP2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    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): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

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

    FOXP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOXP2

    10/17 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)

    Search CenterWatch for drugs/clinical trials and news about FOXP2

    (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,
    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, Sirion Biotech, 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
    18/19 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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXP2
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    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 

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

    N21118 AF337817 CB410682 BM701645 NM_148900 NM_148898 BU521502 AF454830 
    NM_014491 AF467257 BX280996 CB410681 AF467253 AF467255 NM_148899 AF086040 
    CB118125 BX481950 BI752226 CD637510 N31133 BC018016 AF467256 AY144615 

    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™, 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)      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 
     5/33 selected tissues (see all 33) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Medulla Oblongata
             brain/forebrain/diencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Telencephalon
             brain/midbrain/lateral wall   
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Alveolar Progenitor Cells Terminal Sacs
             lung ; pneumocytes   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             cervix, uterine ; squamous epithelial cells   
             bronchial epithelial cells   

    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 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 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxp21 , 5 forkhead box P21, 5 93.28(n)1
    99.58(a)1
      6 (6.49 cM)5
    1141421  NM_053242.41  NP_444472.21 
     149013885 
    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
    forkhead box P2
    91(a)
    1 ↔ 1
    5(59136066-59503430)
    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
    Protein FKH-7, isoform a
    22(a)
    possible ortholog
    IV(5584661-5610364)


    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)
    About This Section
    Paralogs for FOXP2 gene
    FOXN32  FOXJ12  FOXK12  FOXN42  FOXK22  FOXP42  FOXN12  FOXG12  
    FOXJ32  FOXJ22  FOXN22  FOXP32  FOXP12  
    14 SIMAP similar genes for FOXP2 using alignment to 13 protein entries:     FOXP2_HUMAN (see all proteins):
    DKFZp686H1726    hFKHLB    DKFZp762O213    QRICH2    C10orf137    CCDC171
    UBIAD1    FOXP4    FOXP1    FOXJ3    FOXL1    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) 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

    10/10060 SNPs in FOXP2 are shown (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) 10/25 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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    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)

  • 20/46 diseases for FOXP2 (see all 46):    About MalaCards
    language disorder    speech disorder    communication disorder    7q31 microdeletion syndrome
    blepharophimosis, ptosis, and epicanthus inversus syndrome    blepharophimosis    bamforth-lazarus syndrome    pervasive developmental disorder
    hypertonia    axenfeld-rieger syndrome    peters anomaly    aphasia
    apraxia    autistic disorder    developmental disabilities    dyslexia
    lymphedema    premature ovarian failure    attention deficit hyperactivity disorder    autism spectrum disorder

    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

    10/25 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)
    About This Section

    PubMed articles for FOXP2 gene, integrated from 9 sources (see all 276):
    (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. Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations. (PubMed id 16538183)1, 4, 9 Sanjuan J....de Frutos R. (2006)
    9. Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PubMed id 19018235)1, 4, 9 Laroche F....Robel L. (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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 93986 HGNC: 13875 AceView: FOXP2 Ensembl:ENSG00000128573 euGenes: HUgn93986
    ECgene: FOXP2 H-InvDB: FOXP2

    (According to HUGE)
    About This Section
      --

    (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

    (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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