IGF2R

insulin like growth factor 2 receptor

Summary

This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]

Known Variants200 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2115160662	6:160,390,328	G/C	—	uncertain significance
rs1201276099	6:160,390,330	C/T	—	uncertain significance
rs753534364	6:160,390,393	C/G	—	uncertain significance
rs543570485	6:160,392,889	A/G	—	—
rs117448557	6:160,393,757	A/G	regulatory region variant	—
rs3777420	6:160,394,730	A/G	intron variant	—
rs576887840	6:160,395,116	G/A	—	—
rs9347372	6:160,401,264	A/G	—	—
rs6917747	6:160,402,705	G/A	regulatory region variant	—
rs75474551	6:160,409,894	G/A	—	—
rs766465285	6:160,412,262	A/G	—	uncertain significance
rs757915126	6:160,412,275	G/A	—	uncertain significance
rs781093873	6:160,412,286	A/G	—	likely benign
rs147110717	6:160,412,313	G/A	—	uncertain significance
rs76778371	6:160,418,050	G/A	intron variant	—
rs10945649	6:160,428,561	T/A	coding sequence variant	—
rs2483444808	6:160,430,062	G/A	—	uncertain significance
rs2483444888	6:160,430,104	G/A	—	uncertain significance
rs770149987	6:160,430,125	A/G	—	uncertain significance
rs1003737	6:160,430,656	A/C	upstream gene variant	—
rs756631085	6:160,431,755	C/T	—	likely pathogenic
rs573817058	6:160,431,779	G/A	—	uncertain significance
rs746593397	6:160,431,780	C/A	—	uncertain significance
rs8191743	6:160,431,904	G/A	upstream gene variant	—
rs11759563	6:160,445,693	T/C	—	likely benign
rs758806961	6:160,445,694	G/C	—	uncertain significance
rs778846648	6:160,445,704	C/T	—	uncertain significance
rs763568046	6:160,448,256	C/G	—	uncertain significance
rs76235629	6:160,448,264	A/G	—	benign
rs2483471250	6:160,448,293	G/T	—	uncertain significance
rs368140638	6:160,448,296	G/A	—	likely benign
rs150809922	6:160,448,315	C/T	—	benign
rs8191754	6:160,448,324	C/G	missense variant	—
rs142589883	6:160,448,336	C/T	—	uncertain significance
rs9365125	6:160,450,402	T/C	—	—
rs8191758	6:160,450,623	A/G	—	uncertain significance
rs148289420	6:160,450,635	G/A	—	uncertain significance
rs1583269087	6:160,450,666	T/A	—	likely benign
rs370150079	6:160,450,680	G/A	—	uncertain significance
rs1570070	6:160,453,978	A/G	synonymous variant	—
rs376646523	6:160,454,021	G/A	—	uncertain significance
rs772212062	6:160,454,055	A/C	—	uncertain significance
rs2483479730	6:160,454,091	A/T	—	uncertain significance
rs1562350641	6:160,454,120	T/G	—	uncertain significance
rs1174067825	6:160,455,479	T/C	—	uncertain significance
rs78797168	6:160,459,191	A/G	intron variant	—
rs1265113981	6:160,461,592	G/A	—	uncertain significance
rs545847434	6:160,461,609	A/T	—	likely benign
rs145880697	6:160,461,613	C/T	—	uncertain significance
rs757124612	6:160,461,663	G/A	—	likely benign
rs1218932999	6:160,461,685	A/G	—	uncertain significance
rs755005034	6:160,461,693	C/A	—	uncertain significance
rs202065634	6:160,461,696	C/T	—	uncertain significance
rs377617959	6:160,461,702	G/A	—	likely benign
rs1369444521	6:160,464,188	C/A	—	uncertain significance
rs143677595	6:160,464,247	T/C	—	likely benign
rs376518853	6:160,464,303	C/T	—	uncertain significance
rs745800031	6:160,465,578	A/G	—	likely benign
rs1274632884	6:160,465,588	C/T	—	uncertain significance
rs768792641	6:160,465,594	A/G	—	uncertain significance
rs8191798	6:160,466,856	G/A	—	likely benign
rs563159058	6:160,467,053	C/T	—	—
rs1778073327	6:160,467,594	G/C	—	uncertain significance
rs1276651264	6:160,467,626	T/C	—	uncertain significance
rs2483500853	6:160,467,641	G/C	—	uncertain significance
rs147174872	6:160,467,649	G/C	—	uncertain significance
rs1402633090	6:160,467,656	G/T	—	uncertain significance
rs416572	6:160,467,890	T/C	intron variant	—
rs998075	6:160,468,278	A/G	synonymous variant	—
rs370316128	6:160,468,298	A/G	—	uncertain significance
rs2483502611	6:160,468,329	C/G	—	likely benign
rs141234361	6:160,468,852	G/A	—	uncertain significance
rs757916334	6:160,468,858	A/T	—	uncertain significance
rs780198115	6:160,468,896	G/A	—	uncertain significance
rs77985420	6:160,468,908	C/T	—	uncertain significance
rs202147312	6:160,468,915	C/T	—	uncertain significance
rs1379957471	6:160,468,938	A/C	—	uncertain significance
rs8191804	6:160,468,947	A/G	—	benign
rs6909681	6:160,469,099	T/A	intron variant	—
rs2483505354	6:160,469,430	T/G	—	likely benign
rs8191808	6:160,469,510	C/G	—	benign
rs137887848	6:160,469,535	G/A	—	uncertain significance
rs8191809	6:160,469,542	A/G	—	benign
rs1116262	6:160,470,880	G/A	intron variant	—
rs8191819	6:160,471,556	G/A	—	uncertain significance
rs776307638	6:160,471,577	G/A	—	uncertain significance
rs149020070	6:160,471,615	C/T	—	likely benign
rs752875889	6:160,471,650	C/T	—	uncertain significance
rs372347541	6:160,471,664	G/A	—	uncertain significance
rs146646011	6:160,471,675	G/T	—	uncertain significance
rs182427292	6:160,472,415	G/A	intron variant	—
rs13192111	6:160,472,834	T/A	intron variant	—
rs561373447	6:160,472,981	G/A	—	—
rs3777411	6:160,476,945	C/T	intron variant	—
rs75132722	6:160,476,986	A/G	intron variant	—
rs199686579	6:160,479,116	C/T	—	likely benign
rs533866817	6:160,479,977	C/G	—	uncertain significance
rs1440412162	6:160,480,019	G/A	—	uncertain significance
rs755640551	6:160,481,736	C/G	—	uncertain significance
rs2483533902	6:160,482,547	A/G	—	uncertain significance

Showing 100 of 200 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.