FOXP2 |
- 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:
- specific language disorder Monarch
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)