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    FOXP2 forkhead box P2 [ Homo sapiens (human) ]

    Gene ID: 93986, updated on 8-Aug-2016
    Official Symbol
    FOXP2provided by HGNC
    Official Full Name
    forkhead box P2provided by HGNC
    Primary source
    HGNC:HGNC:13875
    See related
    Ensembl:ENSG00000128573 HPRD:05611; MIM:605317; Vega:OTTHUMG00000023131
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPCH1; CAGH44; TNRC10
    Summary
    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]
    Orthologs
    Location:
    7q31
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (114086310..114693772)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (113726365..114333827)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986837 Neighboring gene long intergenic non-protein coding RNA 998 Neighboring gene protein phosphatase 1 regulatory subunit 3A Neighboring gene ribosomal protein L36 pseudogene 13 Neighboring gene RNA, 5S ribosomal pseudogene 238 Neighboring gene microRNA 3666 Neighboring gene MyoD family inhibitor domain containing Neighboring gene long intergenic non-protein coding RNA 1393 Neighboring gene long intergenic non-protein coding RNA 1392

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Speech-language disorder 1
    MedGen: C0750927 OMIM: 602081 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-09-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2012-09-19)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    NHGRI GWA Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat specifically associates with FOXP2 promoter to upregulate FOXP2 expression in T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686H1726

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    caudate nucleus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    growth IEA
    Inferred from Electronic Annotation
    more info
     
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial cell proliferation involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    putamen development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    righting reflex IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    smooth muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    vocal learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    forkhead box protein P2
    Names
    CAG repeat protein 44
    forkhead/winged-helix transcription factor
    trinucleotide repeat containing 10
    trinucleotide repeat-containing gene 10 protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007491.2 RefSeqGene

      Range
      5001..612463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172766.2NP_001166237.1  forkhead box protein P2 isoform V

      See identical proteins and their annotated locations for NP_001166237.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 2. The resulting isoform (V) is shorter than isoform II.
      Source sequence(s)
      AC020606, AF337817, AI369947, BC018016, BC143867
      UniProtKB/Swiss-Prot
      O15409
      UniProtKB/TrEMBL
      B7ZLK5
      Related
      ENSP00000377135, OTTHUMP00000067771, ENST00000393498, OTTHUMT00000139941
      Conserved Domains (1) summary
      cd00059
      Location:503575
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    2. NM_001172767.2NP_001166238.1  forkhead box protein P2 isoform VI

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, the 3' coding region and the 3' UTR, compared to variant 2. The resulting isoform (VI) has a distinct C-terminus and is shorter than isoform II.
      Source sequence(s)
      AF337817, AF467254, AF467259
      UniProtKB/Swiss-Prot
      O15409
      UniProtKB/TrEMBL
      Q8N6B5
      Related
      ENSP00000375084, OTTHUMP00000196934, ENST00000390668, OTTHUMT00000317368
      Conserved Domains (1) summary
      pfam16159
      Location:367434
      FOXP-CC; FOXP coiled-coil domain
    3. NM_014491.3NP_055306.1  forkhead box protein P2 isoform I

      See identical proteins and their annotated locations for NP_055306.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the 5' coding region, as compared to variant 2. The resulting isoform (I) is shorter than isoform II.
      Source sequence(s)
      AC020606, AF337817, AI369947, BC018016
      Consensus CDS
      CCDS5760.1
      UniProtKB/Swiss-Prot
      O15409
      Related
      ENSP00000265436, OTTHUMP00000024749, ENST00000350908, OTTHUMT00000059452
      Conserved Domains (2) summary
      cd00059
      Location:504576
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:342409
      FOXP-CC; FOXP coiled-coil domain
    4. NM_148898.3NP_683696.2  forkhead box protein P2 isoform II

      See identical proteins and their annotated locations for NP_683696.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (II).
      Source sequence(s)
      AC020606, AI369947, AY144615, BC018016
      Consensus CDS
      CCDS43635.1
      UniProtKB/Swiss-Prot
      O15409
      UniProtKB/TrEMBL
      X5D2H2
      Related
      ENSP00000386200, OTTHUMP00000067772, ENST00000408937, OTTHUMT00000137483
      Conserved Domains (2) summary
      cd00059
      Location:529601
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:367434
      FOXP-CC; FOXP coiled-coil domain
    5. NM_148899.3NP_683697.2  forkhead box protein P2 isoform III

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks an in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (III) has a distinct C-terminus and is shorter than isoform II.
      Source sequence(s)
      AF467253, AF467254, AF467258
      Consensus CDS
      CCDS5761.2
      UniProtKB/Swiss-Prot
      O15409
      UniProtKB/TrEMBL
      Q8N6B6
      Related
      ENSP00000353367, OTTHUMP00000196935, ENST00000360232, OTTHUMT00000317369
      Conserved Domains (1) summary
      pfam16159
      Location:342409
      FOXP-CC; FOXP coiled-coil domain
    6. NM_148900.3NP_683698.2  forkhead box protein P2 isoform IV

      See identical proteins and their annotated locations for NP_683698.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon and has an additional in-frame exon in the coding region, compared to variant 2. The resulting isoform (IV) is shorter than isoform II.
      Source sequence(s)
      AC020606, AI369947, AK296957, BC018016
      Consensus CDS
      CCDS55154.1
      UniProtKB/Swiss-Prot
      O15409
      Related
      ENSP00000385069, ENST00000403559
      Conserved Domains (2) summary
      cd00059
      Location:521593
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:359426
      FOXP-CC; FOXP coiled-coil domain

    RNA

    1. NR_033766.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020606, AI369947, AK131266, DA400243
    2. NR_033767.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020606, AI369947, BC018016, BC143866
      Related
      ENST00000393491

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      114086310..114693772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012801.1XP_016868290.1  

      Related
      ENSP00000489073, OTTHUMP00000281529, ENST00000635638, OTTHUMT00000488569
      Conserved Domains (2) summary
      cd00059
      Location:529601
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:367434
      FOXP-CC; FOXP coiled-coil domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      113659668..114267158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)