PIK3C2B

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

Summary

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs770075841	1:204,393,999	C/T	—	uncertain significance
rs114464486	1:204,394,022	G/A	—	likely benign
rs61758020	1:204,394,023	G/C	—	conflicting classifications of pathogenicity
rs61758019	1:204,394,073	G/A	—	benign
rs115140808	1:204,394,081	C/T	—	benign
rs370165316	1:204,394,128	C/T	—	uncertain significance
rs546949370	1:204,394,809	G/A	—	uncertain significance
rs560842694	1:204,394,876	T/C	—	likely benign
rs17334387	1:204,396,830	G/A	—	benign
rs1411743541	1:204,396,831	G/T	—	uncertain significance
rs143922784	1:204,396,857	T/C	—	likely benign
rs773476660	1:204,399,051	C/T	—	uncertain significance
rs2271419	1:204,399,061	A/G	—	benign
rs2271420	1:204,399,064	G/A	—	benign
rs2526580257	1:204,399,075	T/C	—	uncertain significance
rs779951277	1:204,399,114	G/A	—	uncertain significance
rs150362646	1:204,399,115	C/G	—	uncertain significance
rs9661807	1:204,400,066	A/G	intron variant	—
rs2526589467	1:204,400,837	T/C	—	uncertain significance
rs112275388	1:204,400,844	T/C	—	benign
rs373782380	1:204,400,869	T/A	—	uncertain significance
rs61748805	1:204,400,886	G/T	—	likely benign
rs767405481	1:204,400,887	T/C	—	uncertain significance
rs748551249	1:204,400,891	T/C	—	likely benign
rs765644193	1:204,401,365	C/A	—	uncertain significance
rs61758001	1:204,401,392	G/C	—	benign
rs146463340	1:204,401,397	C/T	—	likely benign
rs139230011	1:204,401,452	G/A	—	uncertain significance
rs369376392	1:204,402,491	G/A	—	likely benign
rs2271422	1:204,402,500	C/T	—	benign
rs143663969	1:204,402,914	T/G	—	likely benign
rs144860399	1:204,403,029	G/A	—	benign
rs140451383	1:204,403,619	T/C	—	uncertain significance
rs1351037291	1:204,403,658	C/T	—	uncertain significance
rs150291272	1:204,403,686	G/A	—	likely benign
rs1450496692	1:204,403,690	G/A	—	uncertain significance
rs756753122	1:204,403,720	A/G	—	uncertain significance
rs369008003	1:204,403,741	G/A	—	benign
rs41302123	1:204,408,135	G/A	—	benign
rs562236149	1:204,409,328	C/T	—	uncertain significance
rs745700056	1:204,409,329	G/A	—	uncertain significance
rs755979604	1:204,409,418	G/A	—	uncertain significance
rs2526629793	1:204,409,448	C/T	—	uncertain significance
rs142530894	1:204,410,612	C/T	—	uncertain significance
rs2526641993	1:204,411,655	C/T	—	uncertain significance
rs2526642015	1:204,411,659	G/A	—	uncertain significance
rs61763421	1:204,411,688	C/G	—	likely benign
rs759431943	1:204,411,705	C/T	—	likely benign
rs565020398	1:204,411,765	G/C	—	likely benign
rs61763415	1:204,412,558	G/T	—	likely benign
rs139118184	1:204,412,575	C/T	—	likely benign
rs41302549	1:204,412,588	T/C	—	likely benign
rs1653568400	1:204,412,703	C/T	—	uncertain significance
rs377334259	1:204,413,250	C/T	—	uncertain significance
rs200492669	1:204,413,259	G/A	—	uncertain significance
rs2292459	1:204,413,297	T/C	—	benign
rs2292460	1:204,413,299	G/A	—	benign
rs150983515	1:204,413,505	G/A	—	likely benign
rs751159224	1:204,415,184	C/T	—	uncertain significance
rs113060235	1:204,415,185	G/A	—	benign
rs368714819	1:204,415,219	G/C	—	uncertain significance
rs149639608	1:204,416,625	T/C	—	uncertain significance
rs749588530	1:204,416,640	G/A	—	uncertain significance
rs202100605	1:204,416,661	G/C	—	uncertain significance
rs752536285	1:204,416,690	G/A	—	uncertain significance
rs17847754	1:204,418,364	G/A	—	benign
rs146180975	1:204,418,407	C/T	—	uncertain significance
rs142362916	1:204,419,062	G/A	—	likely benign
rs150261506	1:204,419,142	G/C	—	uncertain significance
rs1452981179	1:204,423,798	G/C	—	uncertain significance
rs61762608	1:204,423,811	A/G	—	benign
rs373469473	1:204,423,875	T/C	—	uncertain significance
rs138622746	1:204,423,879	C/T	—	uncertain significance
rs376149688	1:204,423,880	G/A	—	likely benign
rs201034887	1:204,424,997	T/G	—	uncertain significance
rs3765156	1:204,425,028	G/A	—	benign
rs144449544	1:204,425,045	C/A	—	likely benign
rs1171585359	1:204,425,080	C/T	—	uncertain significance
rs61762602	1:204,426,183	C/A	—	likely benign
rs750509470	1:204,426,900	G/C	—	uncertain significance
rs151334446	1:204,426,937	G/A	—	likely benign
rs61762598	1:204,426,946	G/A	—	benign
rs1394879941	1:204,426,993	G/T	—	uncertain significance
rs17847745	1:204,428,998	G/C	—	benign
rs148284999	1:204,429,520	G/C	—	uncertain significance
rs373022234	1:204,429,674	G/A	—	likely benign
rs567976369	1:204,429,683	G/A	—	uncertain significance
rs139758981	1:204,429,698	G/A	—	likely benign
rs1164204116	1:204,429,748	C/A	—	uncertain significance
rs61740681	1:204,429,756	T/C	—	likely benign
rs1234888718	1:204,433,216	T/C	—	uncertain significance
rs1186927564	1:204,433,688	T/C	—	uncertain significance
rs2942149	1:204,434,277	T/C	regulatory region variant	—
rs373574680	1:204,434,340	C/T	—	likely benign
rs775431284	1:204,434,434	G/C	—	uncertain significance
rs45492196	1:204,434,438	G/A	—	benign
rs1369411778	1:204,434,443	C/T	—	uncertain significance
rs12093802	1:204,437,594	C/T	intron variant	—
rs771442075	1:204,438,011	A/C	—	uncertain significance
rs371279623	1:204,438,035	G/T	—	uncertain significance

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.