PDE4B
phosphodiesterase 4B
Summary
This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs74085345 | 1:66,256,239 | T/C | upstream gene variant | — |
| rs6701146 | 1:66,265,499 | G/T | — | — |
| rs11208756 | 1:66,269,311 | T/C | intron variant | — |
| rs11208757 | 1:66,269,936 | C/G | — | — |
| rs4384209 | 1:66,279,125 | A/G | intron variant | — |
| rs34061534 | 1:66,290,024 | C/T | intron variant | — |
| rs6664699 | 1:66,304,167 | C/T | intron variant | — |
| rs12760107 | 1:66,304,644 | T/A | intron variant | — |
| rs10493389 | 1:66,310,865 | T/C | intron variant | — |
| rs61797058 | 1:66,319,768 | G/A | — | — |
| rs6588168 | 1:66,324,118 | C/T | intron variant | — |
| rs6588170 | 1:66,343,074 | G/A | intron variant | — |
| rs6695557 | 1:66,349,013 | G/A | intron variant | — |
| rs12064884 | 1:66,364,651 | A/G | intron variant | — |
| rs4655591 | 1:66,390,808 | A/T | intron variant | — |
| rs2997084 | 1:66,393,732 | C/G | intron variant | — |
| rs4554696 | 1:66,408,011 | C/T | intron variant | — |
| rs11208774 | 1:66,410,109 | C/T | intron variant | — |
| rs11208776 | 1:66,411,733 | A/T | intron variant | — |
| rs11208779 | 1:66,417,145 | G/C | intron variant | — |
| rs7547416 | 1:66,419,087 | G/A | regulatory region variant | — |
| rs6421482 | 1:66,419,905 | A/G | intron variant | — |
| rs61799396 | 1:66,422,444 | C/T | intron variant | — |
| rs6696340 | 1:66,424,447 | G/A | intron variant | — |
| rs1937436 | 1:66,441,329 | G/A | intron variant | — |
| rs12564578 | 1:66,445,516 | G/C | — | — |
| rs2186120 | 1:66,453,163 | G/A | intron variant | — |
| rs59255680 | 1:66,453,384 | T/C | intron variant | — |
| rs4531269 | 1:66,455,345 | G/A | intron variant | — |
| rs1937443 | 1:66,469,643 | C/G | regulatory region variant | — |
| rs7522876 | 1:66,470,915 | G/T | intron variant | — |
| rs61796569 | 1:66,476,437 | C/T | intron variant | — |
| rs72667426 | 1:66,481,640 | A/G | intron variant | — |
| rs2455012 | 1:66,520,998 | A/C | — | — |
| rs9436758 | 1:66,533,299 | A/G | intron variant | — |
| rs57550775 | 1:66,542,025 | G/T | intron variant | — |
| rs6661750 | 1:66,546,884 | A/C | — | — |
| rs4655595 | 1:66,558,759 | A/G | downstream gene variant | — |
| rs7418220 | 1:66,583,968 | G/A | intron variant | — |
| rs72667481 | 1:66,586,957 | G/C | — | — |
| rs4655601 | 1:66,650,871 | G/A | intron variant | — |
| rs1084490 | 1:66,668,154 | T/C | intron variant | — |
| rs952635 | 1:66,691,885 | C/T | intron variant | — |
| rs7529249 | 1:66,696,665 | C/G | — | — |
| rs772252118 | 1:66,713,249 | C/T | — | uncertain significance |
| rs370994595 | 1:66,713,310 | C/T | — | uncertain significance |
| rs1321172 | 1:66,730,713 | C/G | intron variant | — |
| rs505237 | 1:66,738,623 | A/T | — | — |
| rs12142375 | 1:66,746,784 | G/A | intron variant | — |
| rs546784 | 1:66,762,466 | T/C | intron variant | — |
| rs6683977 | 1:66,769,100 | G/C | intron variant | — |
| rs611838 | 1:66,771,421 | T/C | intron variant | — |
| rs1040716 | 1:66,777,590 | A/T | intron variant | — |
| rs2180336 | 1:66,777,996 | C/T | intron variant | — |
| rs2180335 | 1:66,785,930 | A/G | intron variant | — |
| rs1453424766 | 1:66,798,194 | A/G | — | uncertain significance |
| rs764077407 | 1:66,798,230 | A/G | — | uncertain significance |
| rs472952 | 1:66,800,764 | A/G | intron variant | — |
| rs1321177 | 1:66,815,071 | G/T | regulatory region variant | — |
| rs2144719 | 1:66,823,134 | G/A | — | — |
| rs768259010 | 1:66,828,886 | C/T | — | likely benign |
| rs536802434 | 1:66,831,406 | C/T | — | benign |
| rs1470634530 | 1:66,833,482 | G/A | — | uncertain significance |
| rs758382247 | 1:66,833,501 | C/T | — | uncertain significance |
| rs151031090 | 1:66,833,690 | C/T | — | uncertain significance |
| rs114211692 | 1:66,834,595 | G/A | — | benign |
| rs79722858 | 1:66,838,076 | C/T | — | benign |
| rs2545907710 | 1:66,838,111 | G/A | — | uncertain significance |
| rs34469235 | 1:66,838,194 | C/G | — | uncertain significance |
| rs370754936 | 1:66,838,216 | C/T | — | uncertain significance |
| rs2227297 | 1:66,838,257 | A/T | — | benign |
| rs185910614 | 1:66,838,270 | C/T | — | uncertain significance |
| rs778134389 | 1:66,838,313 | G/C | — | uncertain significance |
| rs769957434 | 1:66,838,350 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.