SLC2A4
solute carrier family 2 member 4
Summary
This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5415 | 17:7,184,481 | T/C | regulatory region variant | — |
| rs5417 | 17:7,185,062 | C/A | regulatory region variant | — |
| rs5418 | 17:7,185,092 | G/A | regulatory region variant | — |
| rs1597598561 | 17:7,185,277 | A/G | — | uncertain significance |
| rs1326889234 | 17:7,186,865 | G/A | — | uncertain significance |
| rs8192703 | 17:7,186,877 | C/G | — | likely benign |
| rs150043620 | 17:7,187,089 | C/T | — | uncertain significance |
| rs5435 | 17:7,187,123 | T/C | synonymous variant | — |
| rs751922258 | 17:7,187,184 | A/T | — | likely benign |
| rs2508590235 | 17:7,187,334 | G/A | — | uncertain significance |
| rs145632483 | 17:7,187,402 | C/T | — | benign |
| rs2508590768 | 17:7,187,547 | G/C | — | uncertain significance |
| rs758412459 | 17:7,187,653 | C/T | — | uncertain significance |
| rs755126006 | 17:7,187,671 | C/G | — | uncertain significance |
| rs202200041 | 17:7,187,680 | G/A | — | uncertain significance |
| rs750952410 | 17:7,187,881 | C/T | — | uncertain significance |
| rs775685895 | 17:7,187,921 | G/A | — | likely benign |
| rs140743598 | 17:7,187,929 | C/T | — | uncertain significance |
| rs1429456544 | 17:7,188,230 | T/C | — | uncertain significance |
| rs747448696 | 17:7,188,410 | T/G | — | uncertain significance |
| rs768249426 | 17:7,188,422 | C/T | — | uncertain significance |
| rs370389410 | 17:7,188,426 | C/T | — | uncertain significance |
| rs558457748 | 17:7,188,438 | C/T | — | uncertain significance |
| rs8192702 | 17:7,188,459 | C/T | — | likely benign |
| rs748883129 | 17:7,188,486 | T/A | — | uncertain significance |
| rs778451601 | 17:7,189,028 | G/A | — | uncertain significance |
| rs121434581 | 17:7,189,048 | G/A | missense variant | pathogenic |
| rs762884661 | 17:7,189,065 | C/G | — | uncertain significance |
| rs745416470 | 17:7,189,126 | G/A | — | uncertain significance |
| rs766922260 | 17:7,189,779 | C/T | — | uncertain significance |
| rs760219674 | 17:7,189,872 | G/A | — | uncertain significance |
| rs560238897 | 17:7,190,437 | T/G | — | — |
| rs180915454 | 17:7,192,025 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.