IMPDH2
inosine monophosphate dehydrogenase 2
Summary
This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2471626581 | 3:49,061,947 | C/T | — | uncertain significance |
| rs2093188716 | 3:49,061,980 | C/G | — | uncertain significance |
| rs746865709 | 3:49,062,020 | G/A | — | likely benign |
| rs1177890498 | 3:49,062,174 | T/C | — | uncertain significance |
| rs2093192604 | 3:49,062,567 | G/A | — | uncertain significance |
| rs2471627895 | 3:49,062,615 | C/T | — | uncertain significance |
| rs2106782998 | 3:49,062,665 | G/T | — | uncertain significance |
| rs754546292 | 3:49,063,798 | C/T | — | uncertain significance |
| rs1307280038 | 3:49,063,982 | A/G | — | uncertain significance |
| rs11706052 | 3:49,064,110 | A/G | downstream gene variant | benign |
| rs121434586 | 3:49,064,152 | G/A | missense variant | affects |
| rs760008447 | 3:49,064,189 | A/C | — | uncertain significance |
| rs767704477 | 3:49,064,190 | A/C | — | uncertain significance |
| rs2106786741 | 3:49,064,224 | C/G | — | uncertain significance |
| rs2471630299 | 3:49,064,226 | T/C | — | likely pathogenic |
| rs2106787098 | 3:49,064,393 | C/G | — | uncertain significance |
| rs140737786 | 3:49,064,398 | T/C | — | uncertain significance |
| rs2471630671 | 3:49,064,419 | T/C | — | conflicting classifications of pathogenicity |
| rs1372369639 | 3:49,064,471 | T/C | — | uncertain significance |
| rs371762701 | 3:49,064,485 | G/A | — | likely benign |
| rs72624911 | 3:49,064,576 | C/T | downstream gene variant | — |
| rs749965056 | 3:49,065,234 | G/A | — | uncertain significance |
| rs377521601 | 3:49,065,292 | G/A | — | uncertain significance |
| rs142797363 | 3:49,065,306 | G/C | — | uncertain significance |
| rs2471632340 | 3:49,065,336 | C/T | — | likely pathogenic |
| rs1160229245 | 3:49,065,871 | G/T | — | uncertain significance |
| rs72624905 | 3:49,066,243 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.