LRP2

LDL receptor related protein 2

Summary

The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]

Known Variants3,759 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200562866	2:169,983,787	T/A	—	uncertain significance
rs777022298	2:169,983,800	T/A	—	uncertain significance
rs975265788	2:169,983,808	T/C	—	uncertain significance
rs886055070	2:169,983,951	G/A	—	uncertain significance
rs377389886	2:169,983,986	A/T	—	uncertain significance
rs575232276	2:169,984,055	A/C	—	likely benign
rs886055072	2:169,984,066	C/A	—	uncertain significance
rs528016062	2:169,984,124	C/T	—	uncertain significance
rs1343679502	2:169,984,176	A/G	—	uncertain significance
rs1403428051	2:169,984,182	G/A	—	uncertain significance
rs886055073	2:169,984,211	A/T	—	uncertain significance
rs886055075	2:169,984,349	C/A	—	uncertain significance
rs193064620	2:169,984,434	G/C	—	likely benign
rs1685156680	2:169,984,541	A/T	—	uncertain significance
rs79052831	2:169,984,629	A/G	—	benign
rs115478975	2:169,984,643	G/A	—	likely benign
rs753071422	2:169,984,692	T/C	—	uncertain significance
rs114836292	2:169,984,729	C/T	—	likely benign
rs145253443	2:169,984,766	A/T	—	likely benign
rs886055076	2:169,984,795	G/A	—	uncertain significance
rs753321063	2:169,984,863	G/A	—	uncertain significance
rs192934188	2:169,984,876	T/C	—	likely benign
rs61116673	2:169,984,920	A/G	—	benign
rs978826047	2:169,985,011	C/T	—	uncertain significance
rs183814447	2:169,985,015	A/G	—	likely benign
rs570023654	2:169,985,051	T/C	—	uncertain significance
rs141693983	2:169,985,155	C/T	—	likely benign
rs895609402	2:169,985,173	C/T	—	likely benign
rs1241511727	2:169,985,174	T/C	—	uncertain significance
rs1460506334	2:169,985,176	T/C	—	likely benign
rs141263543	2:169,985,178	C/G	—	uncertain significance
rs778285947	2:169,985,199	G/A	—	uncertain significance
rs371806198	2:169,985,204	G/A	—	uncertain significance
rs202210831	2:169,985,205	C/T	—	uncertain significance
rs150373759	2:169,985,206	G/A	—	likely benign
rs1245816974	2:169,985,209	G/C	—	uncertain significance
rs79179577	2:169,985,220	T/A	—	conflicting classifications of pathogenicity
rs760457856	2:169,985,222	T/A	—	uncertain significance
rs1024105423	2:169,985,235	A/T	—	uncertain significance
rs369442840	2:169,985,237	T/A	—	uncertain significance
rs112043518	2:169,985,239	G/C	—	likely benign
rs2545620475	2:169,985,245	A/C	—	likely benign
rs1261677981	2:169,985,247	T/G	—	uncertain significance
rs2105321999	2:169,985,250	G/C	—	uncertain significance
rs144292380	2:169,985,260	C/T	—	likely benign
rs191145030	2:169,985,261	G/A	—	conflicting classifications of pathogenicity
rs2105322047	2:169,985,266	A/C	—	likely benign
rs2545620541	2:169,985,275	C/T	—	likely benign
rs2545620548	2:169,985,280	C/A	—	uncertain significance
rs749765184	2:169,985,286	G/A	—	uncertain significance
rs756813419	2:169,985,287	C/T	—	likely benign
rs142430940	2:169,985,288	G/A	—	uncertain significance
rs745591415	2:169,985,291	G/A	—	uncertain significance
rs140802648	2:169,985,294	G/A	—	uncertain significance
rs965856608	2:169,985,298	G/T	—	uncertain significance
rs932953736	2:169,985,308	C/T	—	likely benign
rs529198764	2:169,985,309	G/A	—	conflicting classifications of pathogenicity
rs2105322142	2:169,985,311	A/C	—	likely benign
rs202155452	2:169,985,321	T/A	—	uncertain significance
rs1325911888	2:169,985,322	C/G	—	uncertain significance
rs1293736226	2:169,985,328	G/T	—	uncertain significance
rs932886306	2:169,985,329	C/G	—	uncertain significance
rs1483865943	2:169,985,332	G/A	—	likely benign
rs112842952	2:169,985,334	T/C	—	uncertain significance
rs34564141	2:169,985,338	T/C	—	likely benign
rs774577291	2:169,985,344	A/G	—	likely benign
rs2545620749	2:169,985,354	G/A	—	likely benign
rs41268683	2:169,985,418	C/T	—	benign
rs2545621092	2:169,985,503	G/T	—	likely benign
rs1437699824	2:169,985,509	T/A	—	likely benign
rs776561986	2:169,985,510	T/C	—	likely benign
rs2105322506	2:169,985,511	G/T	—	likely benign
rs370043394	2:169,985,513	T/C	—	likely benign
rs2545621145	2:169,985,515	A/C	—	likely benign
rs1558966554	2:169,985,521	A/G	—	uncertain significance
rs1685191857	2:169,985,522	C/T	—	uncertain significance
rs769866427	2:169,985,530	T/A	—	uncertain significance
rs2545621215	2:169,985,556	T/C	—	likely benign
rs2545621230	2:169,985,559	T/C	—	likely benign
rs573151646	2:169,985,566	T/A	—	uncertain significance
rs2545621250	2:169,985,568	T/C	—	likely benign
rs764511347	2:169,985,569	C/T	—	uncertain significance
rs202057289	2:169,985,570	G/A	stop gained	pathogenic
rs2545621311	2:169,985,594	C/T	—	uncertain significance
rs2545621350	2:169,985,601	G/A	—	likely benign
rs2545621355	2:169,985,604	A/C	—	likely benign
rs974549695	2:169,985,607	G/C	—	likely benign
rs759258938	2:169,985,608	G/A	—	likely benign
rs2545621380	2:169,985,613	A/G	—	likely benign
rs74839579	2:169,988,946	T/A	—	benign
rs73030803	2:169,989,015	T/G	—	benign
rs762201503	2:169,989,067	G/C	—	likely benign
rs1224244702	2:169,989,070	T/C	—	likely benign
rs200492791	2:169,989,071	C/T	—	likely benign
rs368463648	2:169,989,072	G/A	—	likely benign
rs1193857046	2:169,989,074	C/T	—	likely benign
rs763510703	2:169,989,075	A/C	—	likely benign
rs766726645	2:169,989,078	T/C	—	uncertain significance
rs1685332693	2:169,989,079	G/A	—	uncertain significance
rs761110951	2:169,989,081	T/C	—	likely benign

Showing 100 of 3,759 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.