• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FOXP2 (HGNC:13875) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
forkhead box P2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TNRC10, SPCH1
Alias symbols
CAGH44
%HI
0.09(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.22(Read more about gnomAD LOEUF score)
Cytoband
7q31.1
Genomic Coordinates
GRCh37/hg19: chr7:113726382-114333820 NCBI Ensembl UCSC
GRCh38/hg38: chr7:114086327-114693765 NCBI Ensembl UCSC
MANE Select Transcript
NM_014491.4 ENST00000350908.9 (Read more about MANE Select)
Function
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. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19248
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/19/2012

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 15877281
    MacDermot et al. (2005) identified a heterozygous C-to-T transition in exon 7 of the FOXP2 gene, resulting in an arg328-to-ter (R328X) substitution, in 2 siblings with verbal apraxia and their mother, who was described as having a history of "speech problems." The R328X mutation was not identified in 252 control chromosomes.
HI Evidence Comments:
There have been several reports of large deletions and genomic rearrangements involving the FOXP2 gene (as well as other genes) in individuals with speech apraxia (PMIDs: 22144704, 22106036, 22105961, 17033973, 16470794, etc.), as well as reported missense and other sequence changes within the gene (11586359, 20923434, 15737702). However, as none of these deletions are focal, and it cannot be definitiviely stated that the sequence level changes result in loss of gene function, a haploinsufficiency score of "1" has been given at this time.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)