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forkhead box protein P2; CAG repeat protein 44; trinucleotide repeat-containing gene 10 protein (FOXP2)

Function: - transcriptional repressor - role in specification & differentiation of lung epithelium (putative) - role in developing neural, gastrointestinal & cardiovascular tissues (putative) - can act with CTBP1 to synergistically repress transcription, but CTPBP1 is not essential - involved in neural mechanisms mediating development of speech & language - forms homodimers & heterodimers with FOXP1 & FOXP4 - dimerization is required for DNA-binding - interacts with CTBP1 - FOXP2 binds to & downregulates CNTNAP2 [2] Structure: - contains 1 C2H2-type zinc finger - contains 1 fork-head DNA-binding domain - leucine-zipper is required for dimerization transcriptional repression Compartment: nucleus Alternative splicing: named isoforms=8 Expression: - isoforms 1 & 6 are expressed in adult & fetal brain, caudate nucleus & lung - expressed in the brain at 15 & 22 weeks of gestation, with a pattern of strong cortical, basal ganglia, thalamic & cerebellar expression - highly expressed in head & tail of caudate nucleus & putamen - restricted expression within globus pallidus, with high levels in the globus pallidus internal segment - in thalamus, present in central-medial thalamic nucleus & dorsal-medial thalamic nucleus, lower levels in other nuclei Pathology: - defects in FOXP2 are the cause of speech-language disorder 1 - chromosomal translocation t(5;7)(q22;q31.2) disrupting FOXP2 is a cause of severe speech & language impairment - mutation identified in a kindred with developmental verbal dyspraxia

General

C2H2 type zinc finger protein forkhead family transcription factor

Properties

SIZE: MW = 80 kD entity length = 715 aa COMPARTMENT: cell nucleus MOTIF: Zn finger C2H2-type SITE: 346-371 EFFECTOR-BOUND: Zn+2 fork head domain NAME: fork head domain SITE: 504-594

Database Correlations

OMIM correlations UniProt O15409 Pfam PF00250 Entrez Gene 93986

References

  1. UniProt :accession O15409
  2. Vernes SC et al A functional genetic link between distinct developmental language disorders. N Engl J Med 2008 Nov 27; 359:2337 PMID: 18987363 - Stromswold K. The genetics of speech and language impairments. N Engl J Med 2008 Nov 27; 359:2381 PMID: 18987364
  3. Protein Spotlight Talking heads - Issue 51 of October 2004 http://www.expasy.org/spotlight/back_issues/sptlt051.shtml
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXP2
  5. Wikipedia FOXP2 entry http://en.wikipedia.org/wiki/FOXP2