PRKAR2A
protein kinase cAMP-dependent type II regulatory subunit alpha
Summary
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374377380 | 3:48,789,026 | C/T | — | uncertain significance |
| rs2081661982 | 3:48,789,716 | A/G | — | uncertain significance |
| rs202143115 | 3:48,793,814 | T/C | — | uncertain significance |
| rs78088158 | 3:48,801,172 | C/A | intron variant | — |
| rs747583679 | 3:48,802,691 | T/G | — | uncertain significance |
| rs745366884 | 3:48,802,758 | T/C | — | uncertain significance |
| rs7429596 | 3:48,808,531 | T/A | — | — |
| rs771219111 | 3:48,810,485 | T/C | — | uncertain significance |
| rs1181391783 | 3:48,810,492 | C/T | — | uncertain significance |
| rs1162724619 | 3:48,810,513 | C/G | — | uncertain significance |
| rs116113836 | 3:48,812,594 | G/C | — | — |
| rs371959163 | 3:48,820,468 | G/A | — | uncertain significance |
| rs780071307 | 3:48,820,515 | G/C | — | uncertain significance |
| rs137997194 | 3:48,824,937 | A/G | intron variant | — |
| rs199867642 | 3:48,831,459 | C/T | — | uncertain significance |
| rs746644588 | 3:48,831,462 | G/A | — | uncertain significance |
| rs149178804 | 3:48,835,245 | G/A | intron variant | — |
| rs7639370 | 3:48,837,917 | C/A | — | — |
| rs1343213746 | 3:48,845,106 | T/C | — | uncertain significance |
| rs79672978 | 3:48,860,623 | G/T | — | — |
| rs72931157 | 3:48,864,998 | C/G | intron variant | — |
| rs566117790 | 3:48,880,471 | T/C | — | — |
| rs2470990481 | 3:48,884,798 | T/C | — | uncertain significance |
| rs2470990671 | 3:48,884,824 | T/G | — | uncertain significance |
| rs567753272 | 3:48,884,854 | A/G | — | likely benign |
| rs2470991149 | 3:48,884,870 | T/G | — | likely benign |
| rs916215824 | 3:48,884,890 | G/A | — | uncertain significance |
| rs759540303 | 3:48,884,960 | G/C | — | uncertain significance |
| rs11709092 | 3:48,887,027 | A/C | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.