ADRA2A
adrenoceptor alpha 2A
Summary
Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs521674 | 10:112,835,590 | T/A | upstream gene variant | — |
| rs1800544 | 10:112,836,503 | G/C | upstream gene variant | likely benign |
| rs36022820 | 10:112,836,572 | A/G | — | likely benign |
| rs1800545 | 10:112,837,538 | G/A | regulatory region variant | — |
| rs1017263426 | 10:112,837,759 | T/A | — | uncertain significance |
| rs770095627 | 10:112,837,791 | T/C | — | uncertain significance |
| rs1178408507 | 10:112,837,857 | G/A | — | uncertain significance |
| rs999050821 | 10:112,837,858 | G/A | — | uncertain significance |
| rs12416313 | 10:112,837,979 | G/C | — | benign |
| rs779134972 | 10:112,838,007 | C/T | — | uncertain significance |
| rs768064852 | 10:112,838,052 | C/T | — | uncertain significance |
| rs777995895 | 10:112,838,121 | A/C | — | uncertain significance |
| rs142434876 | 10:112,838,135 | C/G | — | benign |
| rs1454775700 | 10:112,838,161 | T/C | — | uncertain significance |
| rs373186564 | 10:112,838,217 | G/A | — | likely benign |
| rs199783285 | 10:112,838,284 | C/T | — | uncertain significance |
| rs200592713 | 10:112,838,337 | G/A | — | uncertain significance |
| rs200814490 | 10:112,838,436 | A/G | — | uncertain significance |
| rs762958713 | 10:112,838,454 | A/G | — | uncertain significance |
| rs756797941 | 10:112,838,490 | C/G | — | uncertain significance |
| rs566589780 | 10:112,838,550 | A/G | — | uncertain significance |
| rs1365069112 | 10:112,838,560 | G/A | — | uncertain significance |
| rs1164458352 | 10:112,838,620 | A/G | — | uncertain significance |
| rs1843566229 | 10:112,838,625 | G/A | — | uncertain significance |
| rs1038808187 | 10:112,838,648 | C/G | — | benign |
| rs898875531 | 10:112,838,649 | G/A | — | uncertain significance |
| rs886590597 | 10:112,838,656 | G/A | — | uncertain significance |
| rs1843567872 | 10:112,838,745 | C/G | — | uncertain significance |
| rs1258239544 | 10:112,838,815 | C/A | — | likely benign |
| rs762870842 | 10:112,838,818 | C/T | — | uncertain significance |
| rs1431880172 | 10:112,838,826 | G/A | — | uncertain significance |
| rs978567792 | 10:112,838,827 | G/A | — | uncertain significance |
| rs369219397 | 10:112,839,127 | G/A | — | uncertain significance |
| rs547631131 | 10:112,839,130 | G/A | — | uncertain significance |
| rs11195419 | 10:112,839,368 | C/A | 3 prime UTR variant | — |
| rs553668 | 10:112,839,579 | A/G | 3 prime UTR variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.