IDE
insulin degrading enzyme
Summary
This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2251101 | 10:94,211,304 | C/T | downstream gene variant | — |
| rs4646958 | 10:94,214,359 | T/A | intron variant | — |
| rs11187007 | 10:94,214,580 | A/C | — | — |
| rs201349668 | 10:94,215,365 | T/C | — | likely benign |
| rs1452177801 | 10:94,216,122 | C/A | — | uncertain significance |
| rs375559999 | 10:94,216,146 | C/T | — | uncertain significance |
| rs3781239 | 10:94,217,797 | C/G | intron variant | — |
| rs771089800 | 10:94,220,992 | A/G | — | uncertain significance |
| rs551266 | 10:94,222,624 | C/T | intron variant | — |
| rs760507488 | 10:94,223,515 | T/C | — | uncertain significance |
| rs768737548 | 10:94,223,531 | T/G | — | uncertain significance |
| rs61736443 | 10:94,223,726 | A/G | — | benign |
| rs1887922 | 10:94,224,165 | C/T | regulatory region variant | — |
| rs7899603 | 10:94,225,017 | G/C | intron variant | — |
| rs35640611 | 10:94,225,548 | G/T | — | benign |
| rs766928899 | 10:94,225,568 | C/T | — | uncertain significance |
| rs1019582649 | 10:94,228,696 | G/A | — | uncertain significance |
| rs114285269 | 10:94,228,731 | A/G | — | uncertain significance |
| rs1481750859 | 10:94,228,738 | C/G | — | uncertain significance |
| rs4646957 | 10:94,229,912 | C/T | intron variant | — |
| rs2494534569 | 10:94,230,070 | G/A | — | uncertain significance |
| rs780814518 | 10:94,230,078 | G/C | — | uncertain significance |
| rs2149632 | 10:94,232,247 | T/A | — | — |
| rs775610032 | 10:94,235,675 | A/G | — | uncertain significance |
| rs1409530515 | 10:94,235,732 | T/C | — | uncertain significance |
| rs374338329 | 10:94,239,089 | G/A | — | uncertain significance |
| rs2494610410 | 10:94,239,110 | G/A | — | uncertain significance |
| rs1846731965 | 10:94,243,044 | C/A | — | uncertain significance |
| rs1847049844 | 10:94,246,957 | A/G | — | uncertain significance |
| rs375936259 | 10:94,246,978 | G/A | — | uncertain significance |
| rs6583817 | 10:94,247,247 | C/T | intron variant | — |
| rs147628298 | 10:94,250,252 | T/C | — | uncertain significance |
| rs1847278351 | 10:94,250,263 | T/A | — | uncertain significance |
| rs2494713756 | 10:94,250,327 | C/T | — | uncertain significance |
| rs149596491 | 10:94,250,333 | A/C | — | uncertain significance |
| rs114611496 | 10:94,259,439 | A/G | intron variant | — |
| rs11187033 | 10:94,262,359 | T/G | — | — |
| rs752463347 | 10:94,264,576 | C/T | — | uncertain significance |
| rs747481660 | 10:94,264,600 | G/A | — | uncertain significance |
| rs141915194 | 10:94,264,627 | C/T | — | uncertain significance |
| rs770831145 | 10:94,264,629 | G/A | — | uncertain significance |
| rs372615598 | 10:94,264,653 | T/C | — | uncertain significance |
| rs770919134 | 10:94,266,239 | C/T | — | uncertain significance |
| rs764826071 | 10:94,267,409 | T/C | — | uncertain significance |
| rs1848393382 | 10:94,267,882 | C/T | — | uncertain significance |
| rs1832196 | 10:94,268,334 | G/T | — | — |
| rs572543538 | 10:94,268,574 | T/C | — | uncertain significance |
| rs1390861123 | 10:94,268,599 | T/A | — | uncertain significance |
| rs756832605 | 10:94,269,820 | T/C | — | uncertain significance |
| rs748471930 | 10:94,269,854 | G/C | — | uncertain significance |
| rs767688483 | 10:94,269,879 | A/C | — | uncertain significance |
| rs930851011 | 10:94,269,893 | C/A | — | uncertain significance |
| rs771986094 | 10:94,274,729 | G/T | — | uncertain significance |
| rs367823775 | 10:94,274,738 | T/C | — | likely benign |
| rs7895832 | 10:94,276,526 | A/G | — | — |
| rs145222716 | 10:94,278,685 | G/A | intron variant | — |
| rs7078413 | 10:94,290,484 | A/G | — | — |
| rs1297051350 | 10:94,291,544 | T/C | — | uncertain significance |
| rs1217725081 | 10:94,291,642 | T/C | — | uncertain significance |
| rs1231439552 | 10:94,294,402 | T/C | — | uncertain significance |
| rs776980415 | 10:94,297,189 | T/A | — | uncertain significance |
| rs11187061 | 10:94,305,409 | T/C | intron variant | — |
| rs17107734 | 10:94,305,417 | C/T | intron variant | — |
| rs11187065 | 10:94,311,924 | T/G | — | — |
| rs1999764 | 10:94,320,139 | T/C | intron variant | — |
| rs2495650536 | 10:94,333,707 | G/A | — | uncertain significance |
| rs1183618952 | 10:94,333,745 | G/A | — | uncertain significance |
| rs554481643 | 10:94,333,747 | G/A | — | likely benign |
| rs4646954 | 10:94,333,827 | G/A | regulatory region variant | — |
| rs4646953 | 10:94,333,955 | A/G | regulatory region variant | — |
| rs3758505 | 10:94,334,778 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.