AlphaFold predicted structure
FOXP2 · O15409
Mean pLDDT
59.2/ 100
Low
715 residues
Confidence breakdown
- Very high(≥ 90)13%
- Confident(70–90)26%
- Low(50–70)12%
- Very low(< 50)49%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
FOXP2
Chr 7q31.1forkhead box P2
- Aliases:
- CAGH44
- MANE:
- ENST00000350908.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural basal ganglia disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
childhood apraxia of speech
0.78hereditary disease
0.53attention deficit-hyperactivity disorder
0.53osteoarthritis
0.50risk-taking behaviour
0.48Pain
0.47substance-related disorder
0.47insomnia
0.47post-traumatic stress disorder
0.46Irritability
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Forkhead box protein P2
Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language
Diseases associated with FOXP2
Curated MONDO disease pages that list FOXP2 among their top associated genes.