PDE7B

phosphodiesterase 7B

Summary

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]

Known Variants33 total

rsidPosition (GRCh37)AllelesClassClinVar
rs122096856:136,228,675C/Tintron variant
rs94027776:136,242,778C/G
rs77746406:136,265,165G/Aintron variant
rs10175593986:136,268,606G/Cuncertain significance
rs94027846:136,350,207G/C
rs111548516:136,368,005C/Tintron variant
rs7601810836:136,429,941G/Auncertain significance
rs93893706:136,431,265C/Gintron variant
rs46121746:136,462,744T/Gintron variant
rs77481596:136,464,535T/Gintron variant
rs48961996:136,465,572A/Cintron variant
rs1145531386:136,468,571G/Abenign
rs7549003276:136,470,226A/Guncertain significance
rs94944576:136,474,794T/Aintron variant
rs7764064586:136,475,303A/Cuncertain significance
rs354631066:136,476,782G/Abenign
rs24826825696:136,476,797G/Auncertain significance
rs2022193336:136,476,861A/Guncertain significance
rs1939207996:136,494,965C/Tuncertain significance
rs1382837496:136,494,974A/Guncertain significance
rs24827183706:136,494,998C/Guncertain significance
rs735550796:136,495,009T/Cbenign
rs1999577576:136,500,209G/Cuncertain significance
rs789154196:136,500,215A/Glikely benign
rs7785147856:136,502,368G/Tuncertain significance
rs5566946376:136,502,405T/Guncertain significance
rs7594911876:136,502,443G/Cuncertain significance
rs5607136:136,505,036A/T
rs24827462576:136,508,213T/Cuncertain significance
rs7665880656:136,512,911G/Auncertain significance
rs3743872096:136,512,948G/Cuncertain significance
rs11924285866:136,512,971G/Auncertain significance
rs773573726:136,512,972C/Gbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.