FOXP2 Chromosome 7
Forkhead box P2
Upload your DNA to see your personal genotypes for variants in FOXP2.
What This Gene Does
This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"Forkhead boxes|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7q31.1
Ensembl
ENSG00000128573
Associated Conditions (4)
Childhood apraxia of speech
Inborn genetic diseases
FOXP2-related disorder
See cases
Key Variants
RS117662905
Conflicting classifications of pathogenicity
Childhood apraxia of speech, Childhood apraxia of speech
Health Risk
RS138374374
Conflicting classifications of pathogenicity
Childhood apraxia of speech, Childhood apraxia of speech
Health Risk
RS147624408
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199581885
Conflicting classifications of pathogenicity
Health Risk
RS201320940
Conflicting classifications of pathogenicity
Childhood apraxia of speech, Inborn genetic diseases, Childhood apraxia of speech
Health Risk
RS201343293
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201649896
Conflicting classifications of pathogenicity
Childhood apraxia of speech, Inborn genetic diseases, FOXP2-related disorder
Health Risk
RS566961630
Conflicting classifications of pathogenicity
Childhood apraxia of speech, Childhood apraxia of speech
Health Risk
RS749278394
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS750701057
Conflicting classifications of pathogenicity
Inborn genetic diseases, Childhood apraxia of speech, Inborn genetic diseases
Health Risk
RS751931499
Conflicting classifications of pathogenicity
Childhood apraxia of speech, Childhood apraxia of speech
Health Risk
RS752704782
Conflicting classifications of pathogenicity
Inborn genetic diseases, Childhood apraxia of speech, Inborn genetic diseases
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117662905 | Health Risk | Conflicting classifications of pathogenicity | Childhood apraxia of speech, Childhood apraxia of speech |
| RS138374374 | Health Risk | Conflicting classifications of pathogenicity | Childhood apraxia of speech, Childhood apraxia of speech |
| RS147624408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199581885 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201320940 | Health Risk | Conflicting classifications of pathogenicity | Childhood apraxia of speech, Inborn genetic diseases, Childhood apraxia of speech |
| RS201343293 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201649896 | Health Risk | Conflicting classifications of pathogenicity | Childhood apraxia of speech, Inborn genetic diseases, FOXP2-related disorder |
| RS566961630 | Health Risk | Conflicting classifications of pathogenicity | Childhood apraxia of speech, Childhood apraxia of speech |
| RS749278394 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750701057 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Childhood apraxia of speech, Inborn genetic diseases |
| RS751931499 | Health Risk | Conflicting classifications of pathogenicity | Childhood apraxia of speech, Childhood apraxia of speech |
| RS752704782 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Childhood apraxia of speech, Inborn genetic diseases |
| RS759778893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776108587 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1135401820 | Health Risk | Likely pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS1240175008 | Health Risk | Likely pathogenic | — |
| RS1349250538 | Health Risk | Likely pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS1554441663 | Health Risk | Likely pathogenic | — |
| RS1804799075 | Health Risk | Likely pathogenic | — |
| RS2485386367 | Health Risk | Likely pathogenic | FOXP2-related disorder, FOXP2-related disorder |
| RS2485474457 | Health Risk | Likely pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS2485480571 | Health Risk | Likely pathogenic | FOXP2-related disorder, FOXP2-related disorder |
| RS2485493224 | Health Risk | Likely pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS1064793842 | Health Risk | Pathogenic | — |
| RS121908378 | Health Risk | Pathogenic | Childhood apraxia of speech, Inborn genetic diseases, See cases |
| RS1265049777 | Health Risk | Pathogenic | — |
| RS1347299046 | Health Risk | Pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS1474090446 | Health Risk | Pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS1554412300 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554440661 | Health Risk | Pathogenic | — |
| RS1563047452 | Health Risk | Pathogenic | — |
| RS1584969672 | Health Risk | Pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS1804922106 | Health Risk | Pathogenic | — |
| RS1805777437 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1806756940 | Health Risk | Pathogenic | — |
| RS2129327420 | Health Risk | Pathogenic | — |
| RS2129327570 | Health Risk | Pathogenic | Childhood apraxia of speech, Inborn genetic diseases, Childhood apraxia of speech |
| RS2129332878 | Health Risk | Pathogenic | — |
| RS2129337870 | Health Risk | Pathogenic | See cases, See cases |
| RS2129338694 | Health Risk | Pathogenic | — |
| RS2129341954 | Health Risk | Pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS2485304481 | Health Risk | Pathogenic | — |
| RS2485304607 | Health Risk | Pathogenic | — |
| RS2485304675 | Health Risk | Pathogenic | — |
| RS2485442443 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2485442559 | Health Risk | Pathogenic | — |
| RS2485480857 | Health Risk | Pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |
| RS786200976 | Health Risk | Pathogenic | — |
| RS959136398 | Health Risk | Pathogenic | — |
| RS1178491246 | Health Risk | Pathogenic/Likely pathogenic | Childhood apraxia of speech, Childhood apraxia of speech |