GENE REFERENCE / HGNC:13875

FOXP2

forkhead box P2

protein-coding gene7q31.1Gene information

What does this gene do?

The FOXP2 gene provides instructions for making a protein that acts as a transcription factor, which means that it controls the activity of other genes. It attaches (binds) to the DNA of these genes at a region of the protein known as a forkhead domain. Researchers suspect that the FOXP2 protein may regulate the activity of hundreds of genes.

The FOXP2 protein is active in several tissues, including the brain, both before and after birth. Studies suggest that the FOXP2 protein plays a key role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs. Specifically, this protein is important for synaptic plasticity, which is the ability of synapses to change and adapt to experience over time. Synaptic plasticity is necessary for learning and memory.

The FOXP2 protein appears to be essential for the normal development of speech and language. Researchers are working to determine which genes are influenced by the FOXP2 protein and how changes in their activity lead to abnormal speech and language development.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-01-21. Source review: 2025-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
specific language disorderMONDO:0016226 · Evaluated 2019-05-21	Autosomal dominant	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 515
Submissions for variants in or overlapping this gene: 677
Submissions explicitly reporting this gene: 611
Alleles reported pathogenic / likely pathogenic: 91
VariationIDs with uncertain significance: 220
VariationIDs with conflicting classifications: 16

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about FOXP2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 91 alleles in FOXP2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in FOXP2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →