SPEN

spen family transcriptional repressor

Summary

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]

Known Variants461 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs144566113	1:16,174,562	C/T	—	likely benign
rs1383831323	1:16,174,586	C/T	—	likely benign
rs1205988302	1:16,174,632	G/A	—	uncertain significance
rs1319561958	1:16,174,634	G/C	—	uncertain significance
rs35514973	1:16,185,123	T/C	intron variant	—
rs1015482461	1:16,186,628	G/T	—	—
rs995145323	1:16,186,641	C/T	—	—
rs9782984	1:16,199,051	T/C	intron variant	—
rs1460194680	1:16,199,319	G/A	—	conflicting classifications of pathogenicity
rs150922162	1:16,199,320	C/T	—	likely benign
rs2070595255	1:16,199,327	A/G	—	uncertain significance
rs1372982779	1:16,199,336	A/G	—	uncertain significance
rs2070596812	1:16,199,502	A/G	—	uncertain significance
rs146693537	1:16,199,526	G/A	—	uncertain significance
rs181125105	1:16,199,528	A/G	—	uncertain significance
rs2522927611	1:16,199,553	G/A	—	uncertain significance
rs760065807	1:16,199,562	G/C	—	uncertain significance
rs201724026	1:16,199,578	T/C	—	likely benign
rs2522927850	1:16,199,600	C/T	—	pathogenic
rs1425005992	1:16,199,619	G/A	—	uncertain significance
rs200631878	1:16,199,620	G/A	—	likely benign
rs2522927905	1:16,199,630	G/A	—	uncertain significance
rs537398541	1:16,200,798	C/T	—	likely benign
rs368885092	1:16,202,710	A/G	—	uncertain significance
rs2522935737	1:16,202,747	A/C	—	uncertain significance
rs2148712038	1:16,202,770	G/A	—	benign
rs988492642	1:16,202,788	G/A	—	uncertain significance
rs145825452	1:16,202,843	A/G	—	likely benign
rs1377681458	1:16,202,852	G/A	—	likely benign
rs757023093	1:16,202,869	C/T	—	uncertain significance
rs2070631165	1:16,202,926	C/T	—	uncertain significance
rs2522936339	1:16,202,977	C/T	—	likely pathogenic
rs1336625626	1:16,203,006	G/C	—	uncertain significance
rs199736178	1:16,203,091	A/G	—	benign
rs2522936831	1:16,203,126	C/A	—	likely benign
rs371912619	1:16,203,154	A/G	—	uncertain significance
rs760368002	1:16,203,171	C/G	—	uncertain significance
rs537231104	1:16,211,238	T/C	—	—
rs766201418	1:16,235,839	G/A	—	uncertain significance
rs150756182	1:16,235,842	A/G	—	conflicting classifications of pathogenicity
rs2148728191	1:16,235,854	C/G	—	uncertain significance
rs772105874	1:16,235,856	C/T	—	pathogenic
rs2148728276	1:16,235,890	C/T	—	uncertain significance
rs2070991188	1:16,235,895	C/T	—	likely pathogenic
rs1228348140	1:16,235,896	A/G	—	uncertain significance
rs1045144863	1:16,237,686	A/G	—	uncertain significance
rs1263387333	1:16,237,704	G/A	—	uncertain significance
rs2071008828	1:16,237,719	A/G	—	uncertain significance
rs2148729271	1:16,237,720	A/C	—	uncertain significance
rs2148729283	1:16,237,754	T/C	—	uncertain significance
rs2523033892	1:16,237,800	A/G	—	uncertain significance
rs12063905	1:16,242,620	C/A	—	benign
rs2523045729	1:16,242,688	A/G	—	uncertain significance
rs749176332	1:16,242,757	C/T	—	uncertain significance
rs146324760	1:16,245,456	G/A	—	likely benign
rs2071090891	1:16,245,487	A/G	—	uncertain significance
rs149367983	1:16,245,500	C/G	—	uncertain significance
rs2523053120	1:16,245,954	C/T	—	uncertain significance
rs150287716	1:16,245,979	A/T	—	likely benign
rs2148733237	1:16,245,980	C/T	—	pathogenic
rs61756185	1:16,245,982	A/C	—	likely benign
rs926794473	1:16,245,995	T/C	—	uncertain significance
rs200005166	1:16,246,001	C/T	—	likely benign
rs114910457	1:16,246,018	C/T	—	benign
rs2071111490	1:16,247,376	C/G	—	uncertain significance
rs146173073	1:16,247,386	G/A	—	benign
rs1454664307	1:16,247,432	C/T	—	uncertain significance
rs746134185	1:16,248,740	A/T	—	likely benign
rs2523059489	1:16,248,760	G/A	—	uncertain significance
rs767745132	1:16,254,616	C/A	—	uncertain significance
rs2523072277	1:16,254,638	A/G	—	uncertain significance
rs2523072296	1:16,254,644	C/T	—	likely pathogenic
rs373338584	1:16,254,661	T/C	—	likely benign
rs2523072395	1:16,254,669	A/G	—	uncertain significance
rs779095094	1:16,254,675	G/C	—	uncertain significance
rs142609831	1:16,254,702	A/G	—	uncertain significance
rs2148737783	1:16,254,749	C/T	—	pathogenic
rs2071186869	1:16,254,752	T/C	—	uncertain significance
rs554407489	1:16,254,757	C/T	—	likely benign
rs2148737832	1:16,254,819	A/G	—	uncertain significance
rs2148737840	1:16,254,836	G/T	—	conflicting classifications of pathogenicity
rs2071187754	1:16,254,839	C/T	—	pathogenic
rs202019470	1:16,254,852	G/A	—	likely benign
rs2523073213	1:16,254,871	C/G	—	uncertain significance
rs867088456	1:16,254,873	G/A	—	uncertain significance
rs1557758094	1:16,254,877	C/G	—	uncertain significance
rs777199627	1:16,254,897	C/T	—	uncertain significance
rs2523073309	1:16,254,909	G/C	—	uncertain significance
rs1410383647	1:16,254,912	A/G	—	uncertain significance
rs1374247469	1:16,254,925	C/G	—	uncertain significance
rs751475729	1:16,254,929	C/T	—	conflicting classifications of pathogenicity
rs555715522	1:16,254,931	A/G	—	likely benign
rs138206879	1:16,254,932	C/T	—	uncertain significance
rs2523073438	1:16,254,945	C/G	—	uncertain significance
rs2148737987	1:16,255,023	G/A	—	uncertain significance
rs569728405	1:16,255,035	G/T	—	uncertain significance
rs760583464	1:16,255,055	T/C	—	uncertain significance
rs749597868	1:16,255,121	A/T	—	likely benign
rs149173601	1:16,255,155	G/C	—	conflicting classifications of pathogenicity
rs138688786	1:16,255,157	T/G	—	likely benign

Showing 100 of 461 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.