SHROOM2

shroom family member 2

Summary

This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Known Variants148 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs933648472	X:9,754,602	C/T	—	uncertain significance
rs1320545615	X:9,754,658	C/A	—	uncertain significance
rs1238333473	X:9,754,749	A/G	—	uncertain significance
rs2732875	X:9,763,898	C/T	—	—
rs2405942	X:9,814,135	G/A	intron variant	—
rs149767041	X:9,825,632	T/C	intron variant	—
rs5934710	X:9,837,585	G/C	upstream gene variant	—
rs201114383	X:9,841,714	C/T	—	uncertain significance
rs201837863	X:9,841,748	C/T	—	likely benign
rs2084183793	X:9,841,792	C/T	—	uncertain significance
rs184371255	X:9,857,073	A/G	regulatory region variant	—
rs2084288230	X:9,859,050	G/T	—	uncertain significance
rs899349038	X:9,859,084	C/A	—	uncertain significance
rs200350857	X:9,859,089	G/A	—	likely benign
rs6640543	X:9,859,098	A/G	—	benign
rs61739329	X:9,859,108	A/G	—	benign
rs140977199	X:9,859,110	C/T	—	benign
rs150231382	X:9,859,132	G/A	—	likely benign
rs61999277	X:9,862,431	G/A	—	benign
rs759569489	X:9,862,564	C/T	—	uncertain significance
rs760836533	X:9,862,565	G/T	—	uncertain significance
rs765221240	X:9,862,567	G/A	—	uncertain significance
rs138558321	X:9,862,579	G/A	—	likely pathogenic
rs147346721	X:9,862,630	G/A	—	uncertain significance
rs2518713372	X:9,862,725	G/C	—	uncertain significance
rs74461072	X:9,862,731	G/A	—	benign
rs373429063	X:9,862,768	G/A	—	likely benign
rs2518713637	X:9,862,861	C/A	—	uncertain significance
rs2518713692	X:9,862,898	C/T	—	uncertain significance
rs2518713715	X:9,862,908	T/A	—	likely benign
rs192556048	X:9,862,952	C/T	—	uncertain significance
rs2518713841	X:9,862,978	G/A	—	uncertain significance
rs746283896	X:9,863,006	C/T	—	uncertain significance
rs369354783	X:9,863,009	A/G	—	likely benign
rs779132176	X:9,863,062	T/C	—	uncertain significance
rs747327065	X:9,863,083	G/A	—	uncertain significance
rs761430175	X:9,863,101	C/T	—	likely benign
rs6530341	X:9,863,112	A/G	—	benign
rs2518714140	X:9,863,123	A/G	—	likely benign
rs201195196	X:9,863,126	C/A	—	conflicting classifications of pathogenicity
rs149149058	X:9,863,249	A/G	—	uncertain significance
rs151274823	X:9,863,266	G/A	—	likely benign
rs201256775	X:9,863,374	G/C	—	benign
rs2518714618	X:9,863,400	C/G	—	uncertain significance
rs756528151	X:9,863,408	C/T	—	likely benign
rs144092420	X:9,863,443	A/G	—	uncertain significance
rs199877667	X:9,863,480	C/T	—	uncertain significance
rs149459016	X:9,863,497	C/T	—	benign
rs548293164	X:9,863,548	C/T	—	uncertain significance
rs61739685	X:9,863,587	G/A	—	benign
rs1291560306	X:9,863,617	C/T	—	uncertain significance
rs753894876	X:9,863,628	A/T	—	uncertain significance
rs1219907765	X:9,863,629	G/C	—	uncertain significance
rs760061083	X:9,863,633	G/T	—	uncertain significance
rs2518715111	X:9,863,667	T/A	—	uncertain significance
rs765626122	X:9,863,690	C/T	—	uncertain significance
rs753115210	X:9,863,694	G/C	—	uncertain significance
rs374862299	X:9,863,737	C/T	—	uncertain significance
rs367727332	X:9,863,775	G/A	—	likely benign
rs768642690	X:9,863,788	G/A	—	conflicting classifications of pathogenicity
rs370184337	X:9,863,932	C/T	—	uncertain significance
rs373360048	X:9,863,933	G/A	—	uncertain significance
rs1477180062	X:9,863,942	C/T	—	likely benign
rs145727348	X:9,864,143	T/A	—	benign
rs373819870	X:9,864,259	G/A	—	uncertain significance
rs751951591	X:9,864,327	G/A	—	likely benign
rs61744804	X:9,864,401	T/C	—	uncertain significance
rs61739700	X:9,864,406	G/A	—	benign
rs766620817	X:9,864,434	C/G	—	uncertain significance
rs12006769	X:9,864,443	C/T	—	benign
rs146225710	X:9,864,483	C/T	—	likely benign
rs376124648	X:9,864,506	A/G	—	likely benign
rs746770133	X:9,864,517	G/A	—	likely benign
rs73474584	X:9,864,521	C/T	—	uncertain significance
rs368355034	X:9,864,559	G/A	—	uncertain significance
rs147796126	X:9,864,641	C/T	—	benign
rs1009433101	X:9,864,642	G/A	—	likely benign
rs61752518	X:9,866,233	G/T	—	benign
rs147695083	X:9,866,249	G/A	—	likely benign
rs16985780	X:9,866,265	C/A	—	benign
rs775601244	X:9,866,272	G/A	—	uncertain significance
rs2084345791	X:9,866,297	C/A	—	uncertain significance
rs16985782	X:9,866,298	A/G	—	benign
rs777124643	X:9,866,302	C/G	—	uncertain significance
rs770300117	X:9,866,303	G/A	—	uncertain significance
rs61750846	X:9,866,328	G/A	—	benign
rs763499301	X:9,900,234	C/T	—	likely benign
rs199645557	X:9,900,279	G/T	—	uncertain significance
rs764033303	X:9,900,283	C/T	—	uncertain significance
rs2084655422	X:9,900,315	T/A	—	likely benign
rs200219705	X:9,900,348	C/T	—	uncertain significance
rs777139337	X:9,900,373	G/A	—	uncertain significance
rs12388875	X:9,900,388	C/T	—	uncertain significance
rs2518746067	X:9,900,448	A/G	—	uncertain significance
rs2518746157	X:9,900,495	A/G	—	uncertain significance
rs2084658307	X:9,900,499	G/A	—	uncertain significance
rs142493970	X:9,900,532	G/A	—	uncertain significance
rs150556964	X:9,900,533	C/T	—	likely benign
rs1041685317	X:9,900,560	C/T	—	likely benign
rs2518746291	X:9,900,561	G/A	—	likely benign

Showing 100 of 148 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.