PICALM

phosphatidylinositol binding clathrin assembly protein

Summary

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Known Variants68 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17817600	11:85,677,471	A/G	intron variant	—
rs626542	11:85,682,120	T/A	—	—
rs4944550	11:85,685,574	C/T	—	benign
rs532470	11:85,686,096	T/G	—	benign
rs601185	11:85,686,151	A/T	—	benign
rs618629	11:85,689,435	T/C	—	benign
rs588076	11:85,691,662	G/A	—	—
rs17817690	11:85,692,061	A/G	—	benign
rs377101068	11:85,692,174	T/C	—	uncertain significance
rs694353	11:85,692,181	A/C	—	benign
rs12295435	11:85,692,193	G/A	—	benign
rs200817695	11:85,692,200	G/T	—	uncertain significance
rs2508688	11:85,692,342	A/C	—	benign
rs2542641289	11:85,692,953	G/T	—	uncertain significance
rs756272821	11:85,692,965	C/T	—	likely benign
rs554750	11:85,693,353	T/C	—	benign
rs72951266	11:85,694,608	A/G	—	benign
rs374608856	11:85,694,978	C/A	—	uncertain significance
rs189300607	11:85,695,023	A/G	—	likely benign
rs776901005	11:85,701,326	T/C	—	uncertain significance
rs774294297	11:85,701,370	C/G	—	uncertain significance
rs1565313610	11:85,701,398	T/C	—	uncertain significance
rs189624073	11:85,701,401	G/C	—	uncertain significance
rs746286651	11:85,701,437	A/C	—	uncertain significance
rs488134	11:85,701,622	T/C	—	benign
rs682366	11:85,701,741	T/C	—	benign
rs34013602	11:85,707,896	C/G	—	likely benign
rs151035490	11:85,707,912	T/C	—	benign
rs370829648	11:85,707,952	T/C	—	uncertain significance
rs2094983611	11:85,707,963	C/A	—	uncertain significance
rs527390423	11:85,707,979	A/T	—	benign
rs549088547	11:85,707,980	G/A	—	benign
rs2543319908	11:85,711,762	G/A	—	uncertain significance
rs763507350	11:85,712,098	C/T	—	uncertain significance
rs139625756	11:85,712,153	T/C	—	benign
rs17745105	11:85,712,437	T/C	—	benign
rs17148690	11:85,712,507	T/C	—	benign
rs471204	11:85,714,288	T/C	—	benign
rs7131265	11:85,714,605	T/C	—	benign
rs2543529853	11:85,718,604	T/C	—	uncertain significance
rs10792821	11:85,718,641	T/C	—	benign
rs10751133	11:85,718,663	A/C	—	benign
rs2458496	11:85,718,816	C/G	—	benign
rs1187339484	11:85,722,146	T/C	—	uncertain significance
rs2543685431	11:85,722,150	A/G	—	uncertain significance
rs11234513	11:85,723,127	C/T	—	benign
rs149334225	11:85,723,397	A/G	—	likely benign
rs1273658262	11:85,723,435	C/T	—	uncertain significance
rs368682557	11:85,723,440	G/A	—	likely benign
rs17745153	11:85,723,527	C/T	—	benign
rs592297	11:85,725,937	C/T	synonymous variant	benign
rs67682051	11:85,726,294	T/G	—	benign
rs655641	11:85,731,286	C/G	intron variant	—
rs693458	11:85,733,065	A/C	—	benign
rs12788654	11:85,733,108	T/G	—	benign
rs76279922	11:85,733,729	C/T	—	benign
rs72963077	11:85,737,065	C/G	—	benign
rs545213	11:85,737,129	T/C	—	benign
rs769109513	11:85,737,377	C/T	—	likely benign
rs1593069568	11:85,737,410	C/T	—	uncertain significance
rs541674	11:85,737,502	A/G	—	benign
rs780886080	11:85,742,540	T/C	—	uncertain significance
rs754371476	11:85,742,546	T/C	—	uncertain significance
rs519778	11:85,764,693	T/A	—	—
rs613222	11:85,769,105	T/G	intron variant	—
rs771800238	11:85,779,750	T/C	—	uncertain significance
rs3016327	11:85,780,448	T/C	—	benign
rs3851179	11:85,867,875	C/A	intron variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.