BIN1

bridging integrator 1

Summary

This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]

Known Variants632 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77059199	2:127,805,601	C/T	—	uncertain significance
rs984385783	2:127,805,632	T/G	—	uncertain significance
rs369704619	2:127,805,653	C/T	—	uncertain significance
rs779551565	2:127,805,684	G/A	—	uncertain significance
rs886054829	2:127,805,689	C/T	—	uncertain significance
rs766515815	2:127,805,799	T/C	—	uncertain significance
rs886054830	2:127,805,801	G/A	—	uncertain significance
rs1334404831	2:127,805,855	C/A	—	uncertain significance
rs886054831	2:127,805,859	A/C	—	uncertain significance
rs886054832	2:127,805,888	C/T	—	uncertain significance
rs565856632	2:127,805,908	G/A	—	uncertain significance
rs111649895	2:127,806,020	G/A	—	uncertain significance
rs886054833	2:127,806,047	C/T	—	uncertain significance
rs200108564	2:127,806,080	G/A	—	uncertain significance
rs770804438	2:127,806,101	G/A	—	conflicting classifications of pathogenicity
rs375004668	2:127,806,106	G/A	—	uncertain significance
rs199908147	2:127,806,110	C/A	—	uncertain significance
rs187977939	2:127,806,111	C/T	—	likely benign
rs2104839547	2:127,806,113	T/C	—	uncertain significance
rs748600944	2:127,806,118	G/A	—	uncertain significance
rs1042277527	2:127,806,128	C/T	—	uncertain significance
rs906382843	2:127,806,129	G/A	—	likely benign
rs1422298151	2:127,806,132	G/A	—	likely benign
rs1466748456	2:127,806,133	A/G	—	uncertain significance
rs759691190	2:127,806,137	C/T	—	uncertain significance
rs578196295	2:127,806,138	G/A	—	likely benign
rs147655157	2:127,806,143	G/A	—	uncertain significance
rs771368114	2:127,806,155	G/C	—	uncertain significance
rs775119768	2:127,806,157	T/A	—	uncertain significance
rs121909275	2:127,806,161	T/A	stop gained	pathogenic
rs587783343	2:127,806,171	C/T	stop gained	pathogenic
rs2467132580	2:127,806,172	C/T	—	uncertain significance
rs587783342	2:127,806,174	G/C	—	uncertain significance
rs368983991	2:127,806,176	C/T	—	uncertain significance
rs928950798	2:127,806,177	G/A	—	likely benign
rs1398854153	2:127,806,186	C/T	—	likely benign
rs761759946	2:127,806,188	C/T	—	uncertain significance
rs765060562	2:127,806,189	G/T	—	likely benign
rs2467132904	2:127,806,192	C/T	—	uncertain significance
rs1682474004	2:127,806,193	A/G	—	uncertain significance
rs1452086430	2:127,806,209	C/T	—	uncertain significance
rs2467133153	2:127,806,211	T/C	—	uncertain significance
rs372449622	2:127,806,216	G/A	—	conflicting classifications of pathogenicity
rs1486684931	2:127,806,218	C/T	—	likely benign
rs550886832	2:127,806,225	C/T	—	likely benign
rs114740593	2:127,807,805	C/T	—	likely benign
rs12466852	2:127,807,854	C/T	—	benign
rs7568161	2:127,807,941	C/T	—	benign
rs374227714	2:127,807,977	C/T	—	benign
rs762965764	2:127,807,978	G/A	—	likely benign
rs970643198	2:127,807,984	A/T	—	likely benign
rs766215210	2:127,807,990	C/G	—	likely benign
rs1420732725	2:127,807,994	C/A	—	uncertain significance
rs1682762039	2:127,807,999	G/T	—	uncertain significance
rs774321875	2:127,808,001	T/A	—	uncertain significance
rs759786484	2:127,808,008	G/A	—	uncertain significance
rs1445898966	2:127,808,036	A/C	—	uncertain significance
rs937564049	2:127,808,039	A/C	—	likely benign
rs143258043	2:127,808,042	A/C	—	conflicting classifications of pathogenicity
rs138047593	2:127,808,046	T/C	—	conflicting classifications of pathogenicity
rs561244491	2:127,808,051	C/A	—	uncertain significance
rs142523172	2:127,808,060	G/A	—	likely benign
rs746208232	2:127,808,063	T/C	—	likely benign
rs773732601	2:127,808,064	G/T	—	uncertain significance
rs780816118	2:127,808,070	G/C	—	uncertain significance
rs112318500	2:127,808,076	G/T	—	uncertain significance
rs772786604	2:127,808,083	C/T	—	uncertain significance
rs144458131	2:127,808,084	G/A	—	likely benign
rs1412878762	2:127,808,088	T/C	—	uncertain significance
rs2104859449	2:127,808,091	G/A	—	uncertain significance
rs886043878	2:127,808,094	T/C	—	uncertain significance
rs573164881	2:127,808,111	C/T	—	likely benign
rs760955602	2:127,808,112	G/A	—	likely benign
rs12466912	2:127,808,116	C/G	—	benign
rs375440790	2:127,808,117	G/A	—	likely benign
rs12466914	2:127,808,127	C/G	—	benign
rs7558000	2:127,808,161	G/A	—	likely benign
rs7558001	2:127,808,170	G/A	—	benign
rs2071270	2:127,808,226	A/T	—	benign
rs1573530113	2:127,808,390	A/C	—	likely benign
rs765354438	2:127,808,392	C/G	—	uncertain significance
rs1382722647	2:127,808,393	T/G	—	likely benign
rs750869889	2:127,808,402	G/A	—	likely benign
rs763458588	2:127,808,405	C/A	—	uncertain significance
rs766615886	2:127,808,409	C/T	—	uncertain significance
rs148422103	2:127,808,410	G/A	—	likely benign
rs755351031	2:127,808,412	C/T	—	uncertain significance
rs777452575	2:127,808,413	C/T	—	uncertain significance
rs753612525	2:127,808,414	G/A	—	likely benign
rs756816560	2:127,808,416	C/T	—	uncertain significance
rs2467163921	2:127,808,418	C/T	—	uncertain significance
rs778580743	2:127,808,420	A/G	—	likely benign
rs745758782	2:127,808,425	C/T	—	uncertain significance
rs772155930	2:127,808,426	G/A	—	likely benign
rs1682838921	2:127,808,430	T/A	—	uncertain significance
rs371571307	2:127,808,434	C/T	—	uncertain significance
rs375583449	2:127,808,435	G/C	—	conflicting classifications of pathogenicity
rs768399754	2:127,808,440	C/T	—	uncertain significance
rs2467164150	2:127,808,442	T/C	—	uncertain significance
rs2467164296	2:127,808,456	G/A	—	likely benign

Showing 100 of 632 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.