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Description for Protein FOXP2

forkhead box P2
5 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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. (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • ZNFC2: zinc finger
  • LZ: Leucine Zipper
  • FH: FORKHEAD
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09409
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Trinucleotide repeat containing gene 10 protein; TNRC10; CAG repeat protein 44; CAGH44; Forkhead box P2 isoform I; Forkhead box P2 isoform II; Forkhead box P2 isoform III
    Approved Symbol:
    FOXP2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Developmental verbal dyspraxia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05611 Entrez Gene ID: 93986 OMIM ID: 605317 Swissprot Accession: O15409; A4D0U8; A0AUV6;