INSIG2
insulin induced gene 2
Summary
The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10185316 | 2:118,844,478 | C/G | upstream gene variant | — |
| rs150474434 | 2:118,845,121 | G/T | — | — |
| rs72839616 | 2:118,846,970 | T/G | regulatory region variant | — |
| rs1352083 | 2:118,847,841 | G/T | — | — |
| rs12464355 | 2:118,849,850 | A/G | intron variant | — |
| rs72495043 | 2:118,851,758 | G/T | — | — |
| rs370685389 | 2:118,854,172 | T/A | — | uncertain significance |
| rs765415653 | 2:118,854,250 | G/T | — | uncertain significance |
| rs749320625 | 2:118,854,299 | C/T | — | uncertain significance |
| rs2161829 | 2:118,856,914 | A/T | — | — |
| rs10490625 | 2:118,859,556 | G/A | intron variant | — |
| rs889904 | 2:118,860,471 | C/T | regulatory region variant | — |
| rs35551800 | 2:118,860,873 | T/C | — | benign |
| rs1678595142 | 2:118,860,884 | A/G | — | uncertain significance |
| rs10490624 | 2:118,862,492 | T/C | regulatory region variant | — |
| rs9308762 | 2:118,863,874 | C/G | — | — |
| rs1678682128 | 2:118,864,346 | C/G | — | uncertain significance |
| rs781590512 | 2:118,864,368 | T/C | — | uncertain significance |
| rs17047763 | 2:118,864,756 | A/G | — | benign |
| rs17047764 | 2:118,868,582 | G/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.