UBAP2

ubiquitin associated protein 2

Summary

The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants95 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138140692	9:33,922,582	G/A	—	uncertain significance
rs138911165	9:33,922,791	G/A	—	uncertain significance
rs776429442	9:33,922,872	A/C	—	uncertain significance
rs149408613	9:33,922,873	A/G	—	uncertain significance
rs117160815	9:33,922,974	T/C	—	uncertain significance
rs759372661	9:33,922,975	T/C	—	uncertain significance
rs999007217	9:33,923,013	C/T	—	uncertain significance
rs1360193540	9:33,923,201	C/T	—	uncertain significance
rs200173680	9:33,923,249	G/A	—	uncertain significance
rs764298263	9:33,923,406	C/G	—	uncertain significance
rs1255917430	9:33,923,809	T/C	—	uncertain significance
rs771487841	9:33,923,828	T/A	—	uncertain significance
rs755586638	9:33,923,938	G/A	—	uncertain significance
rs765949922	9:33,923,942	G/A	—	uncertain significance
rs151191223	9:33,923,974	C/T	—	uncertain significance
rs775594520	9:33,923,978	G/A	—	uncertain significance
rs556490028	9:33,924,237	G/C	—	uncertain significance
rs755278438	9:33,924,251	G/A	—	uncertain significance
rs41312824	9:33,926,668	T/C	—	benign
rs770268145	9:33,926,988	G/A	—	uncertain significance
rs764684359	9:33,927,010	C/T	—	uncertain significance
rs762407169	9:33,927,019	C/T	—	uncertain significance
rs373439521	9:33,927,843	C/T	—	likely benign
rs16935295	9:33,927,880	C/G	—	benign
rs141497376	9:33,927,914	G/A	—	uncertain significance
rs139480314	9:33,927,983	C/T	—	uncertain significance
rs307688	9:33,929,510	A/G	downstream gene variant	—
rs307645	9:33,931,398	G/A	downstream gene variant	—
rs535100718	9:33,932,570	G/T	—	uncertain significance
rs144480091	9:33,932,576	G/A	—	uncertain significance
rs77256659	9:33,933,597	G/T	—	benign
rs565631739	9:33,933,621	T/C	—	uncertain significance
rs749663485	9:33,935,875	T/C	—	uncertain significance
rs181795355	9:33,941,648	A/G	—	likely benign
rs745760902	9:33,941,756	G/C	—	uncertain significance
rs1313165227	9:33,941,757	A/T	—	uncertain significance
rs760129073	9:33,941,828	C/G	—	uncertain significance
rs10971808	9:33,943,430	G/A	—	uncertain significance
rs1224274494	9:33,944,436	A/G	—	uncertain significance
rs777466624	9:33,944,448	G/A	—	uncertain significance
rs368771067	9:33,944,450	C/T	—	likely benign
rs144078066	9:33,944,465	C/A	—	uncertain significance
rs771063165	9:33,944,491	T/G	—	uncertain significance
rs146894616	9:33,944,496	C/T	—	uncertain significance
rs765366153	9:33,944,497	C/T	—	likely benign
rs1564024382	9:33,944,551	G/A	—	uncertain significance
rs2489385750	9:33,948,399	A/C	—	uncertain significance
rs1825821701	9:33,948,410	T/C	—	uncertain significance
rs1253970032	9:33,948,413	A/G	—	uncertain significance
rs1435160693	9:33,948,422	G/T	—	uncertain significance
rs764841823	9:33,948,437	G/C	—	uncertain significance
rs185249054	9:33,948,498	C/T	—	uncertain significance
rs1264904928	9:33,948,557	T/A	—	uncertain significance
rs12378019	9:33,949,451	A/G	downstream gene variant	—
rs766925164	9:33,953,356	G/A	—	uncertain significance
rs143401700	9:33,953,414	T/G	—	uncertain significance
rs756060378	9:33,953,416	G/A	—	likely benign
rs749094225	9:33,953,426	C/T	—	uncertain significance
rs375705047	9:33,953,441	C/G	—	uncertain significance
rs949682541	9:33,953,465	G/C	—	uncertain significance
rs10971820	9:33,954,299	C/T	upstream gene variant	—
rs200331065	9:33,956,096	G/T	—	uncertain significance
rs760701052	9:33,960,846	G/A	—	uncertain significance
rs10971825	9:33,962,203	A/C	—	—
rs1467090868	9:33,963,771	T/A	—	uncertain significance
rs920285070	9:33,963,786	A/C	—	uncertain significance
rs765965349	9:33,971,708	A/G	—	uncertain significance
rs757646025	9:33,971,736	C/T	—	uncertain significance
rs2489701047	9:33,971,751	T/C	—	uncertain significance
rs775114778	9:33,973,229	C/A	—	uncertain significance
rs834029	9:33,976,715	C/T	intron variant	—
rs544957562	9:33,978,015	A/C	—	—
rs574338817	9:33,986,766	C/T	—	uncertain significance
rs199847092	9:33,986,782	G/A	—	uncertain significance
rs2489896146	9:33,986,795	G/C	—	uncertain significance
rs75530800	9:33,986,799	A/G	—	likely benign
rs1465754839	9:33,989,003	C/T	—	uncertain significance
rs753685312	9:33,989,004	G/A	—	uncertain significance
rs570522395	9:33,989,019	G/A	—	uncertain significance
rs201922568	9:33,989,025	G/A	—	uncertain significance
rs200124506	9:33,989,028	T/G	—	uncertain significance
rs947636253	9:33,989,031	A/C	—	likely benign
rs1016355679	9:33,989,048	T/G	—	uncertain significance
rs2489922995	9:33,989,112	T/C	—	uncertain significance
rs544682197	9:33,992,658	G/A	—	—
rs10971837	9:33,992,678	A/G	intron variant	—
rs188429462	9:33,993,593	G/A	intron variant	—
rs10814057	9:33,995,404	A/G	—	—
rs10971846	9:34,010,291	A/C	—	—
rs13300356	9:34,016,118	A/G	downstream gene variant	—
rs566017101	9:34,017,099	T/G	—	uncertain significance
rs1758632	9:34,025,640	C/A	—	—
rs6476434	9:34,046,391	C/T	upstream gene variant	—
rs7019833	9:34,046,808	A/C	regulatory region variant	—
rs10453201	9:34,050,345	C/T	regulatory region variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.