ARID5B

AT-rich interaction domain 5B

Summary

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

Known Variants95 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4509706	10:63,661,340	T/C	—	benign
rs1336394649	10:63,661,931	C/A	—	uncertain significance
rs1053149301	10:63,662,033	G/A	—	uncertain significance
rs143621450	10:63,662,036	C/A	—	uncertain significance
rs72833334	10:63,663,562	A/G	regulatory region variant	—
rs7921378	10:63,674,885	G/C	intron variant	—
rs13377168	10:63,675,271	T/A	intron variant	—
rs7083526	10:63,675,843	T/C	intron variant	—
rs6479779	10:63,695,048	C/G	intron variant	—
rs2893880	10:63,697,616	C/G	regulatory region variant	—
rs189088802	10:63,699,188	T/C	regulatory region variant	—
rs7073837	10:63,699,895	A/C	regulatory region variant	—
rs760770011	10:63,700,002	G/C	—	uncertain significance
rs200756363	10:63,700,007	T/G	—	uncertain significance
rs370446097	10:63,700,040	C/T	—	likely benign
rs959498702	10:63,700,099	A/G	—	uncertain significance
rs1251156741	10:63,700,125	G/A	—	uncertain significance
rs2492724630	10:63,700,146	C/A	—	uncertain significance
rs762796068	10:63,700,152	G/C	—	uncertain significance
rs10994982	10:63,710,104	A/C	—	—
rs10740055	10:63,718,479	C/T	—	—
rs4948492	10:63,719,739	C/T	intron variant	—
rs7090445	10:63,721,176	C/T	regulatory region variant	—
rs4245595	10:63,722,895	C/T	intron variant	—
rs10821936	10:63,723,577	C/A	—	—
rs10761598	10:63,739,860	T/G	—	—
rs7087507	10:63,745,689	A/G	intron variant	—
rs10994994	10:63,747,685	T/C	regulatory region variant	—
rs7089424	10:63,752,159	T/G	regulatory region variant	—
rs10761600	10:63,757,120	A/G	—	—
rs150105654	10:63,759,975	C/T	—	likely benign
rs1166230083	10:63,760,005	C/T	—	uncertain significance
rs1839058337	10:63,760,027	A/C	—	uncertain significance
rs71508903	10:63,779,871	C/T	regulatory region variant	—
rs67527161	10:63,781,824	T/C	intron variant	—
rs10821944	10:63,785,089	G/T	regulatory region variant	—
rs12355313	10:63,805,376	A/T	—	—
rs4948496	10:63,805,617	T/A	—	—
rs3740357	10:63,808,960	T/C	regulatory region variant	—
rs368575697	10:63,810,684	A/G	—	likely benign
rs762391579	10:63,810,734	A/G	—	uncertain significance
rs16916931	10:63,813,744	A/G	—	—
rs2492869104	10:63,817,025	G/C	—	uncertain significance
rs763054744	10:63,817,034	G/C	—	uncertain significance
rs10821952	10:63,818,425	T/A	intron variant	—
rs7090871	10:63,830,286	T/C	intron variant	—
rs35809595	10:63,831,928	G/A	regulatory region variant	—
rs141951633	10:63,845,591	A/G	—	uncertain significance
rs1409997584	10:63,845,604	T/C	—	uncertain significance
rs1352309345	10:63,845,613	G/A	—	uncertain significance
rs7903722	10:63,847,284	T/A	—	—
rs150051374	10:63,850,719	G/A	—	likely benign
rs1269895188	10:63,850,785	C/G	—	uncertain significance
rs1478787856	10:63,850,821	G/A	—	likely benign
rs771401194	10:63,850,874	A/T	—	uncertain significance
rs2492917607	10:63,850,876	G/C	—	uncertain significance
rs370284541	10:63,850,928	C/T	—	uncertain significance
rs1840365823	10:63,850,970	C/T	—	uncertain significance
rs1360498816	10:63,850,986	T/A	—	uncertain significance
rs202205668	10:63,851,033	C/T	—	uncertain significance
rs117297247	10:63,851,034	G/A	—	benign
rs143074852	10:63,851,074	G/A	—	benign
rs781136944	10:63,851,078	T/C	—	uncertain significance
rs1229112171	10:63,851,108	A/C	—	uncertain significance
rs140716429	10:63,851,130	C/T	—	likely benign
rs778262915	10:63,851,131	G/T	—	uncertain significance
rs2492918290	10:63,851,155	A/T	—	uncertain significance
rs767381955	10:63,851,213	G/A	—	uncertain significance
rs1318095895	10:63,851,329	A/G	—	uncertain significance
rs141997585	10:63,851,365	C/G	—	uncertain significance
rs146336312	10:63,851,400	T/A	—	uncertain significance
rs141852562	10:63,851,453	T/C	—	uncertain significance
rs201542647	10:63,851,456	C/T	—	uncertain significance
rs535896705	10:63,851,457	G/A	—	likely benign
rs750226503	10:63,851,485	G/A	—	uncertain significance
rs369904878	10:63,851,576	G/A	—	uncertain significance
rs1028412213	10:63,851,584	T/A	—	uncertain significance
rs144809623	10:63,851,624	T/C	—	benign
rs1477130085	10:63,851,670	A/G	—	likely benign
rs147521761	10:63,851,683	C/G	—	uncertain significance
rs1269407329	10:63,851,693	T/C	—	uncertain significance
rs145088760	10:63,851,784	C/A	—	likely benign
rs1840385914	10:63,851,839	C/T	—	uncertain significance
rs1840386351	10:63,851,857	C/T	—	uncertain significance
rs368683439	10:63,851,877	G/A	—	likely benign
rs117023200	10:63,851,958	G/A	—	benign
rs61743750	10:63,852,135	G/A	—	benign
rs2492921304	10:63,852,242	G/C	—	uncertain significance
rs935409875	10:63,852,306	C/T	—	likely benign
rs571413236	10:63,852,311	C/T	—	uncertain significance
rs1300866874	10:63,852,392	C/T	—	uncertain significance
rs747279944	10:63,852,425	G/T	—	uncertain significance
rs1840403750	10:63,852,549	G/C	—	uncertain significance
rs2492922237	10:63,852,600	G/A	—	uncertain significance
rs149557934	10:63,852,730	C/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.