ADRA2C
adrenoceptor alpha 2C
Summary
Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1735446787 | 4:3,768,344 | C/A | — | uncertain significance |
| rs2474213941 | 4:3,768,433 | G/T | — | uncertain significance |
| rs2474213953 | 4:3,768,437 | C/T | — | uncertain significance |
| rs767650956 | 4:3,768,452 | G/A | — | uncertain significance |
| rs773244853 | 4:3,768,467 | A/G | — | uncertain significance |
| rs533734896 | 4:3,768,630 | G/C | — | likely benign |
| rs146370385 | 4:3,768,645 | C/A | — | likely benign |
| rs1291101803 | 4:3,768,812 | A/C | — | uncertain significance |
| rs533453215 | 4:3,768,926 | C/A | — | uncertain significance |
| rs2474215337 | 4:3,769,040 | T/C | — | uncertain significance |
| rs769306805 | 4:3,769,064 | T/G | — | uncertain significance |
| rs768388600 | 4:3,769,094 | A/T | — | uncertain significance |
| rs1319052615 | 4:3,769,111 | A/G | — | uncertain significance |
| rs1577304771 | 4:3,769,120 | G/A | — | uncertain significance |
| rs1735473352 | 4:3,769,136 | C/T | — | uncertain significance |
| rs1284186304 | 4:3,769,153 | G/C | — | uncertain significance |
| rs953574599 | 4:3,769,171 | C/T | — | uncertain significance |
| rs2474215633 | 4:3,769,191 | C/G | — | uncertain significance |
| rs2474215663 | 4:3,769,207 | G/C | — | uncertain significance |
| rs966214482 | 4:3,769,210 | G/C | — | uncertain significance |
| rs1735476963 | 4:3,769,241 | G/A | — | uncertain significance |
| rs181208952 | 4:3,769,266 | G/C | — | likely benign |
| rs1271992698 | 4:3,769,270 | G/A | — | uncertain significance |
| rs1049194375 | 4:3,769,274 | G/C | — | uncertain significance |
| rs1161371305 | 4:3,769,284 | T/C | — | likely benign |
| rs948456558 | 4:3,769,289 | A/G | — | uncertain significance |
| rs907016248 | 4:3,769,305 | G/A | — | likely benign |
| rs539760189 | 4:3,769,327 | G/A | — | uncertain significance |
| rs1456410876 | 4:3,769,328 | C/T | — | uncertain significance |
| rs185354316 | 4:3,769,329 | G/A | — | benign |
| rs189771994 | 4:3,769,348 | C/T | — | benign |
| rs781742921 | 4:3,769,358 | G/T | — | uncertain significance |
| rs7434630 | 4:3,769,500 | C/T | — | benign |
| rs199730052 | 4:3,769,507 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.