FOXP2

forkhead box P2

Summary

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]

Known Variants298 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6466479	7:113,741,105	T/G	intron variant	—
rs139503724	7:113,851,890	G/A	intron variant	—
rs2396719	7:113,893,884	G/A	intron variant	—
rs2253478	7:113,977,996	A/G	intron variant	—
rs2049603	7:113,986,650	G/A	intron variant	—
rs117717824	7:113,989,202	G/T	intron variant	—
rs1916976	7:113,989,569	C/T	intron variant	—
rs2690837	7:113,999,637	G/C	intron variant	—
rs2694944	7:114,010,165	C/G	—	—
rs10953758	7:114,029,863	A/G	intron variant	—
rs12536335	7:114,043,159	A/G	intron variant	—
rs2030912	7:114,046,160	T/A	—	—
rs531957198	7:114,055,091	A/G	—	uncertain significance
rs773664240	7:114,055,133	C/T	—	uncertain significance
rs1166508172	7:114,055,136	A/C	—	uncertain significance
rs761418050	7:114,055,204	C/A	—	uncertain significance
rs117662905	7:114,055,256	T/C	—	conflicting classifications of pathogenicity
rs116320717	7:114,055,327	G/A	—	benign
rs886061914	7:114,055,410	G/A	—	uncertain significance
rs759420480	7:114,055,412	G/T	—	benign
rs12533005	7:114,056,055	G/A	—	—
rs1793857952	7:114,066,577	A/G	—	uncertain significance
rs1207040670	7:114,066,587	A/G	—	likely benign
rs201649896	7:114,066,616	A/T	missense variant	pathogenic
rs763263115	7:114,066,618	A/G	—	uncertain significance
rs2485609220	7:114,066,655	G/A	—	uncertain significance
rs750701057	7:114,066,672	T/C	—	conflicting classifications of pathogenicity
rs942638508	7:114,066,690	T/C	—	uncertain significance
rs754271344	7:114,066,691	C/G	—	uncertain significance
rs1283187808	7:114,066,697	T/C	—	uncertain significance
rs1258244121	7:114,066,720	C/T	—	likely benign
rs766616577	7:114,066,731	G/A	—	uncertain significance
rs7785701	7:114,069,536	C/T	—	—
rs10280045	7:114,076,394	C/T	—	—
rs7783012	7:114,116,881	G/T	—	—
rs2189010	7:114,119,430	G/A	intron variant	—
rs6974757	7:114,124,660	C/G	intron variant	—
rs1989903	7:114,137,940	A/G	intron variant	—
rs6466488	7:114,145,525	G/T	—	—
rs2396753	7:114,148,331	C/T	—	—
rs747126499	7:114,174,686	A/G	—	uncertain significance
rs1554412300	7:114,174,700	T/G	—	pathogenic
rs759949520	7:114,174,702	C/G	—	uncertain significance
rs1799294727	7:114,174,774	C/G	—	uncertain significance
rs10262462	7:114,180,062	A/G	intron variant	—
rs1339286790	7:114,190,422	C/T	—	uncertain significance
rs1859100	7:114,194,615	T/G	intron variant	—
rs17137124	7:114,210,814	T/C	intron variant	benign
rs746011871	7:114,210,912	T/G	—	uncertain significance
rs747951230	7:114,210,934	G/A	—	uncertain significance
rs1279078392	7:114,210,935	C/T	—	uncertain significance
rs1229762	7:114,218,582	C/G	—	—
rs1229761	7:114,223,723	C/A	intron variant	—
rs1229760	7:114,224,163	A/T	—	—
rs1342506252	7:114,268,595	G/T	—	uncertain significance
rs797045587	7:114,268,618	G/T	—	likely benign
rs75306477	7:114,268,624	C/T	—	likely benign
rs1347150082	7:114,268,631	A/T	—	uncertain significance
rs886061915	7:114,268,678	T/C	—	uncertain significance
rs1191637371	7:114,268,679	C/G	—	uncertain significance
rs773759127	7:114,268,687	G/C	—	likely benign
rs1403341767	7:114,268,697	C/T	—	uncertain significance
rs2485304607	7:114,268,703	C/T	—	pathogenic
rs2485304675	7:114,268,709	C/T	—	pathogenic
rs1234721501	7:114,268,717	T/C	—	likely benign
rs1804725523	7:114,268,718	G/T	—	uncertain significance
rs773069565	7:114,269,681	C/T	—	likely benign
rs1804788563	7:114,269,910	G/C	—	uncertain significance
rs2129327420	7:114,269,923	C/T	—	pathogenic
rs62640396	7:114,269,946	A/G	—	likely benign
rs752789124	7:114,269,958	A/T	—	likely benign
rs1563045683	7:114,269,965	C/T	—	pathogenic
rs1240175008	7:114,269,967	G/T	—	likely pathogenic
rs1804799075	7:114,269,968	C/T	—	likely pathogenic
rs564204446	7:114,269,980	C/A	—	uncertain significance
rs368614280	7:114,269,985	A/G	—	benign
rs778496902	7:114,269,988	G/A	—	likely benign
rs111801240	7:114,269,994	A/G	—	benign
rs1584969604	7:114,269,999	A/G	—	likely benign
rs959136398	7:114,270,001	C/T	—	pathogenic
rs146945410	7:114,270,015	A/G	—	likely benign
rs1584969672	7:114,270,016	C/T	—	pathogenic
rs1265049777	7:114,270,019	C/T	—	pathogenic
rs2129327570	7:114,270,022	C/T	—	pathogenic
rs746754336	7:114,270,027	G/A	—	likely benign
rs61758964	7:114,270,033	A/G	—	benign
rs1347299046	7:114,270,049	C/T	—	pathogenic
rs201717988	7:114,270,054	G/T	—	likely benign
rs10227893	7:114,270,077	T/G	downstream gene variant	benign
rs369461083	7:114,271,573	C/T	—	likely benign
rs1003261210	7:114,271,579	C/A	—	likely benign
rs752704782	7:114,271,582	G/C	—	conflicting classifications of pathogenicity
rs1804922106	7:114,271,589	C/T	—	pathogenic
rs1490196021	7:114,271,609	G/A	—	likely benign
rs2485326486	7:114,271,626	A/G	—	uncertain significance
rs749254802	7:114,271,645	G/C	—	uncertain significance
rs755829229	7:114,271,678	G/T	—	uncertain significance
rs1563047452	7:114,271,700	C/T	—	pathogenic
rs1438512681	7:114,271,719	C/T	—	uncertain significance
rs61732741	7:114,271,726	C/T	—	benign

Showing 100 of 298 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.