ADRB2
adrenoceptor beta 2
Summary
This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17778257 | 5:148,204,577 | A/T | upstream gene variant | — |
| rs34623097 | 5:148,204,609 | G/A | upstream gene variant | — |
| rs2895795 | 5:148,204,966 | T/G | — | — |
| rs2400707 | 5:148,205,052 | A/G | upstream gene variant | — |
| rs2053044 | 5:148,205,372 | A/C | — | — |
| rs17108803 | 5:148,205,556 | T/G | regulatory region variant | — |
| rs12654778 | 5:148,205,741 | G/A | regulatory region variant | benign |
| rs11168070 | 5:148,205,927 | G/C | regulatory region variant | benign |
| rs17334228 | 5:148,205,989 | C/T | — | benign |
| rs11959427 | 5:148,206,028 | C/T | regulatory region variant | benign |
| rs1042711 | 5:148,206,348 | C/T | regulatory region variant | drug response |
| rs1801704 | 5:148,206,375 | C/T | regulatory region variant | benign |
| rs755535583 | 5:148,206,401 | C/A | — | uncertain significance |
| rs748833484 | 5:148,206,407 | G/C | — | uncertain significance |
| rs1042713 | 5:148,206,440 | G/A | missense | drug response |
| rs765494455 | 5:148,206,450 | C/A | — | uncertain significance |
| rs33957121 | 5:148,206,460 | C/T | — | benign |
| rs1042714 | 5:148,206,473 | G/C | missense | benign |
| rs201257377 | 5:148,206,600 | A/G | — | benign |
| rs1042717 | 5:148,206,646 | G/A | synonymous variant | benign |
| rs1262409100 | 5:148,206,670 | C/G | — | likely benign |
| rs771189662 | 5:148,206,801 | C/T | — | uncertain significance |
| rs958643421 | 5:148,206,814 | G/C | — | uncertain significance |
| rs1800888 | 5:148,206,885 | C/T | missense variant | drug response |
| rs1580822887 | 5:148,206,886 | C/A | — | likely benign |
| rs1318133873 | 5:148,206,899 | A/G | — | uncertain significance |
| rs1042718 | 5:148,206,917 | C/A | synonymous variant | benign |
| rs200042760 | 5:148,206,954 | A/G | — | likely benign |
| rs3729943 | 5:148,207,053 | C/G | — | benign |
| rs536975083 | 5:148,207,165 | A/T | — | likely benign |
| rs35933628 | 5:148,207,234 | C/T | — | likely benign |
| rs778665236 | 5:148,207,269 | T/A | — | uncertain significance |
| rs767824140 | 5:148,207,376 | C/T | — | uncertain significance |
| rs145066318 | 5:148,207,384 | A/C | — | likely benign |
| rs768349387 | 5:148,207,413 | T/G | — | uncertain significance |
| rs1042719 | 5:148,207,447 | G/C | synonymous variant | benign |
| rs41354346 | 5:148,207,492 | T/C | — | benign |
| rs3730182 | 5:148,207,573 | T/C | — | benign |
| rs1042720 | 5:148,207,633 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.