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    FOXP2 forkhead box P2 [ Homo sapiens (human) ]

    Gene ID: 93986, updated on 17-Dec-2024

    Summary

    Official Symbol
    FOXP2provided by HGNC
    Official Full Name
    forkhead box P2provided by HGNC
    Primary source
    HGNC:HGNC:13875
    See related
    Ensembl:ENSG00000128573 MIM:605317; AllianceGenome:HGNC:13875
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 3.6), endometrium (RPKM 3.4) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FOXP2 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (114086327..114693765)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (115401144..116008457)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (113726382..114333820)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:113382595-113383179 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:113383180-113383763 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:113465760-113466396 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:113608629-113608855 Neighboring gene protein phosphatase 1 regulatory subunit 3A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26522 Neighboring gene VISTA enhancer hs720 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:113848263-113848364 Neighboring gene ribosomal protein L36 pseudogene 13 Neighboring gene VISTA enhancer hs218 Neighboring gene VISTA enhancer hs999 Neighboring gene Sharpr-MPRA regulatory region 15446 Neighboring gene VISTA enhancer hs1080 Neighboring gene VISTA enhancer hs222 Neighboring gene VISTA enhancer hs956 Neighboring gene RNA, 5S ribosomal pseudogene 238 Neighboring gene VISTA enhancer hs966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:114373209-114373709 Neighboring gene microRNA 3666 Neighboring gene VISTA enhancer hs1192 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:114465341-114466180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18549 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:114570117-114570666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:114670265-114670880 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    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

    EBI GWAS Catalog

    Description
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    EBI GWAS Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
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    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • DKFZp686H1726

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin  
    is_active_in nucleus  

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007491.3 RefSeqGene

      Range
      333506..612456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172766.3NP_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, AC073626, AF337817, AI369947, BC018016, BC143867
      UniProtKB/TrEMBL
      A0A0U1RQM2
      Related
      ENSP00000377135.2, ENST00000393498.6
      Conserved Domains (2) 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 ...
      pfam16159
      Location:341408
      FOXP-CC; FOXP coiled-coil domain
    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/TrEMBL
      Q8N6B5
      Related
      ENSP00000375084.3, ENST00000390668.3
      Conserved Domains (1) summary
      pfam16159
      Location:367434
      FOXP-CC; FOXP coiled-coil domain
    3. NM_014491.4NP_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, AC073626, AF337817, AI369947, BC018016
      Consensus CDS
      CCDS5760.1
      UniProtKB/Swiss-Prot
      A0AUV6, A4D0U8, A6NNW4, B4DLD9, O15409, Q6ZND1, Q75MJ3, Q8IZE0, Q8N0W2, Q8N6B7, Q8N6B8, Q8NFQ1, Q8NFQ2, Q8NFQ3, Q8NFQ4, Q8TD74
      UniProtKB/TrEMBL
      A0A0U1RQM2
      Related
      ENSP00000265436.7, ENST00000350908.9
      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_148898.4NP_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, AC073626, AI369947, AY144615, BC018016
      Consensus CDS
      CCDS43635.1
      UniProtKB/TrEMBL
      A4D0T4, X5D2H2
      Related
      ENSP00000386200.3, ENST00000408937.7
      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/TrEMBL
      Q8N6B6
      Related
      ENSP00000353367.4, ENST00000360232.8
      Conserved Domains (1) summary
      pfam16159
      Location:342409
      FOXP-CC; FOXP coiled-coil domain
    6. NM_148900.4NP_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, AC073626, AI369947, AK296957, BC018016
      Consensus CDS
      CCDS55154.1
      UniProtKB/TrEMBL
      A0A0U1RQY3
      Related
      ENSP00000385069.4, ENST00000403559.9
      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_033766.2 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_033767.2 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, AC073626, AI369947, BC018016, BC143866

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      114086327..114693765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      115401144..116008457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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