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

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

More general terms

• forkhead family transcription factor
• C2H2 type zinc finger protein

Database

• OMIM: https://mirror.omim.org/entry/605317
• OMIM: https://mirror.omim.org/entry/602081
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=93986
• UniProt: http://www.uniprot.org/uniprot/O15409.html