G6PC2
glucose-6-phosphatase catalytic subunit 2
Summary
This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1402837 | 2:169,757,354 | C/T | upstream gene variant | — |
| rs573225 | 2:169,757,541 | G/A | upstream gene variant | — |
| rs2232316 | 2:169,757,562 | G/T | — | — |
| rs1690585528 | 2:169,757,860 | A/G | — | uncertain significance |
| rs868267884 | 2:169,757,999 | T/C | — | uncertain significance |
| rs1419379469 | 2:169,758,957 | T/A | — | uncertain significance |
| rs2545190634 | 2:169,761,111 | C/G | — | uncertain significance |
| rs2545190675 | 2:169,761,123 | A/G | — | uncertain significance |
| rs560887 | 2:169,763,148 | C/T | intron variant | — |
| rs181737385 | 2:169,763,170 | G/A | — | benign |
| rs1690720193 | 2:169,763,222 | T/G | — | uncertain significance |
| rs138726309 | 2:169,763,262 | C/T | missense variant | — |
| rs201647518 | 2:169,763,334 | A/G | intron variant | — |
| rs77719485 | 2:169,763,534 | A/C | intron variant | — |
| rs2545195654 | 2:169,764,089 | G/T | — | uncertain significance |
| rs2232324 | 2:169,764,148 | G/A | — | likely benign |
| rs492594 | 2:169,764,176 | G/C | missense variant | — |
| rs144077223 | 2:169,764,220 | G/A | — | likely benign |
| rs146779637 | 2:169,764,368 | C/T | — | uncertain significance |
| rs1414397570 | 2:169,764,394 | C/A | — | uncertain significance |
| rs574976550 | 2:169,764,467 | G/A | — | uncertain significance |
| rs779619992 | 2:169,764,482 | T/G | — | uncertain significance |
| rs772642710 | 2:169,764,489 | T/A | — | uncertain significance |
| rs2232326 | 2:169,764,491 | T/C | — | benign |
| rs2232328 | 2:169,764,546 | C/G | — | benign |
| rs762906384 | 2:169,764,551 | C/G | — | uncertain significance |
| rs993287550 | 2:169,764,556 | G/A | — | uncertain significance |
| rs2232329 | 2:169,764,616 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.