AtlasGene
FOXP2
forkhead box P2
- HGNC 13875↗(opens in a new tab)
- Ensembl gene ENSG00000128573↗(opens in a new tab)
- NCBI Gene 93986↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q31.1
- Coordinates
- Chromosome 7: 114,414,815–114,693,765 (GRCh38)
- Exons
- 17 exons across 279 kb
- Protein
- 715 amino acids
- Also known as
- CAGH44
- Previous symbols
- TNRC10, SPCH1
- MANE Select transcript
- ENST00000350908.9NM_014491.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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FOXP2-Related Speech and Language Disorder
- Autosomal dominant
Caused by loss of function of one copy of FOXP2, a transcription factor important for brain circuits involved in speech. It can be inherited or arise de novo.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
▶Actionability
Speech and language therapy and educational support. Genetic counselling covers the 50% chance of passing the change on and parental testing when it appears new.
How FOXP2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.5 kb of the gene's 279 kb; 2,148 of those bases code for the protein.
Sequencing FOXP2
21
positions in FOXP2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 279 kb of FOXP2, introns included, not only the 6.5 kb of exons.
ClinVar pathogenic variants (23)
The FOXP2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 10
- Pathogenic/likely pathogenic 2
- Likely pathogenic 11
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) (opens in a new tab) | childhood apraxia of speech | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_014491.4(FOXP2):c.307C>T (p.Gln103Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.331C>T (p.Gln111Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.559C>T (p.Gln187Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.586C>T (p.Gln196Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1126C>T (p.Arg376Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1481del (p.Asn494fs) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter) (opens in a new tab) | childhood apraxia of speech | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.163C>T (p.Gln55Ter) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.360_373del (p.Leu121fs) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.985_986dup (p.Asp329fs) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1050G>A (p.Trp350Ter) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1234C>T (p.Arg412Ter) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1418G>A (p.Gly473Glu) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1437_1444del (p.His479fs) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1650T>G (p.Asn550Lys) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1747C>T (p.Arg583Ter) (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_014491.4(FOXP2):c.1769+2T>C (opens in a new tab) | childhood apraxia of speech | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
Traits linked to FOXP2
The Human Phenotype Ontology lists these as features of the rare conditions FOXP2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal speech pattern
- Delayed speech and language development
- Abnormal prosody
- Communication delay
- Difficulty articulating speech
- Grammar-specific speech disorder
- Incomprehensible speech
- Poor fine motor coordination
Show 18 more traits
- Poor speech
- Receptive language delay
- Specific learning disability
- Speech apraxia
- Abnormal caudate nucleus morphology
- Abnormal temper tantrums
- Autism spectrum disorder
- Caudate atrophy
- Delayed social development
- Hypoplasia of the olfactory bulb
- Intellectual disability
- More active than typical
- Neurodevelopmental delay
- Poor gross motor coordination
- Severe global developmental delay
- Short attention span
- Abnormal basal ganglia morphology
- Oromotor apraxia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). FOXP2 gene: forkhead box P2. Retrieved 19 October 2026, from https://dantelabs.com/genes/foxp2
Dante Labs. FOXP2 gene: forkhead box P2 [Internet]. [cited 19 October 2026]. Available from: https://dantelabs.com/genes/foxp2
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