PDE4A
phosphodiesterase 4A
Summary
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 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 described for this gene.[provided by RefSeq, Jul 2011]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553040076 | 19:10,528,376 | T/A | — | uncertain significance |
| rs1307061010 | 19:10,531,474 | C/G | — | uncertain significance |
| rs117495488 | 19:10,531,491 | C/T | — | benign |
| rs78392044 | 19:10,531,500 | G/C | — | benign |
| rs11670704 | 19:10,548,881 | C/A | — | — |
| rs34246431 | 19:10,549,968 | T/A | — | — |
| rs146187364 | 19:10,553,511 | T/C | intron variant | — |
| rs556765076 | 19:10,555,170 | A/C | — | — |
| rs78854124 | 19:10,556,044 | G/A | intron variant | — |
| rs184667824 | 19:10,559,772 | G/A | — | uncertain significance |
| rs1471202678 | 19:10,559,778 | T/C | — | uncertain significance |
| rs202117812 | 19:10,561,575 | C/T | — | likely benign |
| rs186353937 | 19:10,561,621 | T/G | — | benign |
| rs62639961 | 19:10,565,558 | C/T | — | benign |
| rs4804134 | 19:10,568,519 | T/G | intron variant | — |
| rs200315710 | 19:10,568,569 | G/A | — | uncertain significance |
| rs376507621 | 19:10,568,588 | C/T | — | uncertain significance |
| rs375503434 | 19:10,568,621 | G/A | — | uncertain significance |
| rs201753782 | 19:10,568,645 | C/T | — | uncertain significance |
| rs1484885343 | 19:10,568,652 | T/C | — | likely benign |
| rs150660796 | 19:10,568,668 | C/T | — | likely benign |
| rs143260301 | 19:10,570,087 | C/T | — | likely benign |
| rs201557497 | 19:10,570,150 | C/T | — | likely benign |
| rs200635711 | 19:10,570,332 | C/T | — | uncertain significance |
| rs183936414 | 19:10,570,352 | G/A | — | uncertain significance |
| rs142235107 | 19:10,570,409 | G/A | — | uncertain significance |
| rs202184347 | 19:10,571,759 | A/G | — | uncertain significance |
| rs1249575687 | 19:10,572,304 | A/G | — | uncertain significance |
| rs2512400280 | 19:10,572,584 | C/T | — | uncertain significance |
| rs200669683 | 19:10,574,476 | G/A | — | uncertain significance |
| rs2230188 | 19:10,574,495 | C/T | — | benign |
| rs1298142620 | 19:10,574,508 | C/G | — | uncertain significance |
| rs2230189 | 19:10,574,549 | C/T | — | benign |
| rs201746419 | 19:10,574,640 | G/C | — | uncertain significance |
| rs146370645 | 19:10,577,687 | G/A | — | likely benign |
| rs535059972 | 19:10,577,771 | C/T | — | uncertain significance |
| rs62638759 | 19:10,577,831 | A/G | — | benign |
| rs2512414089 | 19:10,577,865 | G/C | — | uncertain significance |
| rs2512414095 | 19:10,577,866 | G/C | — | uncertain significance |
| rs747749678 | 19:10,577,882 | C/A | — | uncertain significance |
| rs200744283 | 19:10,577,885 | T/C | — | uncertain significance |
| rs1440413137 | 19:10,577,909 | A/G | — | uncertain significance |
| rs201995124 | 19:10,577,916 | G/C | — | likely benign |
| rs567424183 | 19:10,578,074 | C/T | — | uncertain significance |
| rs200707536 | 19:10,578,119 | C/T | — | uncertain significance |
| rs201404545 | 19:10,578,164 | C/T | — | uncertain significance |
| rs2512415582 | 19:10,578,206 | G/C | — | uncertain significance |
| rs2512415587 | 19:10,578,208 | G/A | — | uncertain significance |
| rs1365517311 | 19:10,578,209 | C/A | — | uncertain significance |
| rs749428536 | 19:10,578,217 | G/A | — | uncertain significance |
| rs1184438638 | 19:10,578,226 | G/A | — | uncertain significance |
| rs201190584 | 19:10,578,250 | G/A | — | likely benign |
| rs200139989 | 19:10,578,271 | G/A | — | uncertain significance |
| rs140913905 | 19:10,578,281 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.