GPD2
glycerol-3-phosphate dehydrogenase 2
Summary
The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553714328 | 2:157,332,646 | C/T | — | uncertain significance |
| rs769907302 | 2:157,332,693 | C/G | — | uncertain significance |
| rs2468519467 | 2:157,352,588 | C/T | — | likely benign |
| rs145747966 | 2:157,352,676 | A/G | — | conflicting classifications of pathogenicity |
| rs1057521483 | 2:157,352,686 | G/A | — | uncertain significance |
| rs761600581 | 2:157,352,707 | C/T | — | uncertain significance |
| rs297578 | 2:157,355,078 | G/C | — | — |
| rs297587 | 2:157,356,460 | A/G | — | — |
| rs297593 | 2:157,363,743 | T/A | — | — |
| rs764546939 | 2:157,367,336 | T/G | — | uncertain significance |
| rs1347634090 | 2:157,367,396 | T/C | — | likely benign |
| rs141392427 | 2:157,368,740 | G/A | — | uncertain significance |
| rs1003712146 | 2:157,369,876 | A/G | — | uncertain significance |
| rs376931205 | 2:157,369,926 | T/C | — | likely benign |
| rs116805380 | 2:157,369,927 | G/A | — | benign |
| rs142821701 | 2:157,369,961 | C/T | — | conflicting classifications of pathogenicity |
| rs769108865 | 2:157,369,963 | A/G | — | uncertain significance |
| rs372524878 | 2:157,369,979 | A/G | — | uncertain significance |
| rs752343390 | 2:157,370,000 | A/G | — | uncertain significance |
| rs3769359 | 2:157,394,443 | G/C | — | — |
| rs201094855 | 2:157,406,130 | C/G | — | uncertain significance |
| rs370791262 | 2:157,406,131 | G/A | — | uncertain significance |
| rs2468652155 | 2:157,406,216 | T/C | — | uncertain significance |
| rs368542899 | 2:157,406,225 | C/T | — | uncertain significance |
| rs1057522190 | 2:157,407,139 | A/G | — | likely benign |
| rs769617848 | 2:157,407,168 | C/G | — | uncertain significance |
| rs141792291 | 2:157,407,179 | C/T | — | uncertain significance |
| rs773066241 | 2:157,407,180 | G/A | — | uncertain significance |
| rs767842019 | 2:157,407,200 | G/A | — | uncertain significance |
| rs116503732 | 2:157,407,209 | A/G | — | likely benign |
| rs1316687280 | 2:157,407,210 | T/A | — | uncertain significance |
| rs771535457 | 2:157,413,978 | C/T | — | uncertain significance |
| rs1687008634 | 2:157,414,047 | A/G | — | uncertain significance |
| rs1279553171 | 2:157,425,342 | A/G | — | uncertain significance |
| rs762874223 | 2:157,425,395 | C/G | — | likely benign |
| rs1302821503 | 2:157,425,411 | C/G | — | uncertain significance |
| rs199775599 | 2:157,425,417 | A/G | — | uncertain significance |
| rs200074868 | 2:157,426,009 | C/A | — | uncertain significance |
| rs141790407 | 2:157,426,026 | G/A | — | likely benign |
| rs146075516 | 2:157,426,048 | G/A | — | uncertain significance |
| rs759884526 | 2:157,426,617 | G/A | — | conflicting classifications of pathogenicity |
| rs2468707239 | 2:157,426,620 | A/C | — | uncertain significance |
| rs936411977 | 2:157,426,655 | G/C | — | uncertain significance |
| rs375974539 | 2:157,426,656 | G/T | — | uncertain significance |
| rs139369525 | 2:157,426,695 | C/T | — | uncertain significance |
| rs1687599242 | 2:157,427,682 | G/A | — | uncertain significance |
| rs746390648 | 2:157,427,697 | C/T | — | uncertain significance |
| rs1238540065 | 2:157,427,706 | C/T | — | uncertain significance |
| rs116790305 | 2:157,427,763 | C/G | — | likely benign |
| rs774528549 | 2:157,435,439 | A/C | — | uncertain significance |
| rs765878694 | 2:157,435,479 | T/C | — | uncertain significance |
| rs121918407 | 2:157,435,621 | T/C | missense variant | pathogenic |
| rs767588356 | 2:157,439,331 | G/C | — | uncertain significance |
| rs747731520 | 2:157,439,392 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.