PDE8A
phosphodiesterase 8A
Summary
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748162603 | 15:85,525,454 | C/T | — | uncertain significance |
| rs2079723846 | 15:85,525,455 | C/T | — | uncertain significance |
| rs2505590946 | 15:85,525,470 | T/G | — | uncertain significance |
| rs943984676 | 15:85,525,547 | G/A | — | uncertain significance |
| rs35816571 | 15:85,554,122 | C/G | — | — |
| rs71397837 | 15:85,563,561 | G/A | regulatory region variant | — |
| rs56046484 | 15:85,605,427 | G/C | — | — |
| rs7402770 | 15:85,608,048 | T/C | intron variant | — |
| rs138654324 | 15:85,610,291 | G/T | — | uncertain significance |
| rs368348788 | 15:85,632,589 | C/G | — | uncertain significance |
| rs192339320 | 15:85,632,637 | G/T | — | uncertain significance |
| rs2505896255 | 15:85,634,341 | G/A | — | uncertain significance |
| rs375788549 | 15:85,643,260 | A/G | — | uncertain significance |
| rs748455286 | 15:85,643,398 | A/G | — | uncertain significance |
| rs959030349 | 15:85,643,402 | G/A | — | uncertain significance |
| rs191941550 | 15:85,652,001 | C/T | intron variant | — |
| rs760666003 | 15:85,652,323 | C/T | — | uncertain significance |
| rs753388144 | 15:85,652,331 | G/A | — | uncertain significance |
| rs1222636589 | 15:85,652,344 | C/T | — | uncertain significance |
| rs764756300 | 15:85,652,349 | C/T | — | uncertain significance |
| rs536962158 | 15:85,652,350 | G/A | — | uncertain significance |
| rs145029040 | 15:85,656,623 | G/A | — | uncertain significance |
| rs748321768 | 15:85,656,641 | G/A | — | uncertain significance |
| rs1194166702 | 15:85,656,654 | G/T | — | uncertain significance |
| rs1429079286 | 15:85,656,655 | A/T | — | uncertain significance |
| rs769772414 | 15:85,656,658 | A/T | — | uncertain significance |
| rs775517025 | 15:85,657,111 | A/G | — | uncertain significance |
| rs2082056346 | 15:85,657,134 | A/C | — | uncertain significance |
| rs201954186 | 15:85,657,168 | G/A | — | uncertain significance |
| rs200743547 | 15:85,660,939 | G/A | — | uncertain significance |
| rs773169947 | 15:85,660,946 | C/T | — | uncertain significance |
| rs2505965725 | 15:85,660,959 | G/C | — | uncertain significance |
| rs752347816 | 15:85,660,988 | C/T | — | uncertain significance |
| rs762948717 | 15:85,661,006 | A/G | — | uncertain significance |
| rs1196720522 | 15:85,664,041 | C/G | — | uncertain significance |
| rs374802816 | 15:85,664,182 | C/T | — | uncertain significance |
| rs140486977 | 15:85,666,326 | G/A | — | uncertain significance |
| rs1334998185 | 15:85,666,338 | G/A | — | uncertain significance |
| rs373904014 | 15:85,669,493 | G/A | — | uncertain significance |
| rs1160228274 | 15:85,669,553 | T/A | — | uncertain significance |
| rs768451736 | 15:85,679,798 | G/C | — | uncertain significance |
| rs375929785 | 15:85,679,856 | T/C | — | uncertain significance |
| rs780278500 | 15:85,681,109 | G/A | — | uncertain significance |
| rs754020263 | 15:85,681,114 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.