SHBG
sex hormone binding globulin
Summary
This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12150660 | 17:7,521,915 | G/T | upstream gene variant | — |
| rs148093673 | 17:7,522,664 | C/T | upstream gene variant | — |
| rs111901268 | 17:7,522,818 | G/A | upstream gene variant | — |
| rs11078701 | 17:7,523,708 | C/T | intron variant | — |
| rs180677275 | 17:7,527,635 | A/G | downstream gene variant | — |
| rs183339443 | 17:7,528,063 | G/A | downstream gene variant | — |
| rs858521 | 17:7,530,147 | G/T | — | — |
| rs116289877 | 17:7,531,088 | A/T | — | — |
| rs858519 | 17:7,531,965 | T/C | upstream gene variant | — |
| rs858518 | 17:7,533,025 | G/A | upstream gene variant | — |
| rs80279359 | 17:7,533,115 | C/T | regulatory region variant | — |
| rs1799941 | 17:7,533,423 | G/A | regulatory region variant | — |
| rs184782320 | 17:7,533,461 | T/C | regulatory region variant | — |
| rs9282845 | 17:7,533,555 | G/A | — | likely benign |
| rs6260 | 17:7,533,564 | G/A | — | benign |
| rs6257 | 17:7,533,717 | T/C | upstream gene variant | — |
| rs757764436 | 17:7,533,737 | G/A | — | uncertain significance |
| rs9282846 | 17:7,533,742 | C/T | — | benign |
| rs200532749 | 17:7,533,747 | C/T | — | uncertain significance |
| rs2072376889 | 17:7,534,006 | C/G | — | uncertain significance |
| rs559690855 | 17:7,534,071 | G/T | — | uncertain significance |
| rs372962973 | 17:7,534,107 | C/A | — | uncertain significance |
| rs780176979 | 17:7,534,144 | C/T | — | uncertain significance |
| rs758365968 | 17:7,534,508 | C/G | — | likely benign |
| rs939006025 | 17:7,534,533 | G/A | — | uncertain significance |
| rs2508729931 | 17:7,534,563 | G/T | — | uncertain significance |
| rs566066937 | 17:7,534,583 | G/C | — | likely benign |
| rs1334266887 | 17:7,534,597 | G/C | — | uncertain significance |
| rs754963815 | 17:7,534,608 | A/G | — | uncertain significance |
| rs115336700 | 17:7,534,659 | G/C | — | benign |
| rs6258 | 17:7,534,678 | C/T | missense variant | benign |
| rs771711555 | 17:7,534,935 | G/T | — | uncertain significance |
| rs1597921295 | 17:7,535,008 | A/G | — | likely benign |
| rs1237927868 | 17:7,535,290 | C/T | — | uncertain significance |
| rs543138281 | 17:7,535,314 | G/A | — | likely benign |
| rs1039596032 | 17:7,535,322 | C/A | — | uncertain significance |
| rs6261 | 17:7,536,084 | T/C | — | likely benign |
| rs4987212 | 17:7,536,159 | G/A | — | benign |
| rs376443864 | 17:7,536,191 | C/A | — | uncertain significance |
| rs2508746644 | 17:7,536,233 | T/C | — | uncertain significance |
| rs758188449 | 17:7,536,254 | G/A | — | uncertain significance |
| rs6259 | 17:7,536,527 | G/A | missense variant | benign |
| rs769234159 | 17:7,536,554 | G/A | — | uncertain significance |
| rs138612626 | 17:7,536,587 | G/A | — | uncertain significance |
| rs142693170 | 17:7,536,654 | C/A | — | uncertain significance |
| rs191273168 | 17:7,537,135 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.