HTR2C
5-hydroxytryptamine receptor 2C
Summary
This gene encodes a seven-transmembrane G-protein-coupled receptor. The encoded protein responds to signaling through the neurotransmitter serotonin. The mRNA of this gene is subject to multiple RNA editing events, where adenosine residues encoded by the genome are converted to inosines. RNA editing is predicted to alter the structure of the second intracellular loop, thereby generating alternate protein forms with decreased ability to interact with G proteins. Abnormalities in RNA editing of this gene have been detected in victims of suicide that suffer from depression. In addition, naturally-occuring variation in the promoter and 5' non-coding and coding regions of this gene may show statistically-significant association with mental illness and behavioral disorders. Alternative splicing results in multiple different transcript variants. [provided by RefSeq, Jan 2015]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs521018 | X:113,817,908 | T/A | — | — |
| rs498207 | X:113,818,116 | A/G | upstream gene variant | benign |
| rs3813928 | X:113,818,282 | G/A | regulatory region variant | likely benign |
| rs3813929 | X:113,818,520 | C/T | upstream gene variant | likely benign |
| rs518147 | X:113,818,582 | G/A | — | — |
| rs498177 | X:113,824,690 | A/G | downstream gene variant | — |
| rs2192372 | X:113,891,773 | G/A | intron variant | — |
| rs1232972236 | X:113,961,339 | A/T | — | likely benign |
| rs142701803 | X:113,961,353 | A/G | — | uncertain significance |
| rs201115463 | X:113,961,365 | C/T | — | likely benign |
| rs202034357 | X:113,961,366 | G/A | — | likely benign |
| rs782363497 | X:113,961,369 | G/A | — | uncertain significance |
| rs782483805 | X:113,965,710 | C/T | — | likely benign |
| rs2521589474 | X:113,965,712 | A/G | — | likely benign |
| rs6318 | X:113,965,735 | G/T | missense variant | benign |
| rs1240494579 | X:113,965,751 | C/T | — | likely benign |
| rs201249233 | X:113,965,759 | C/T | — | uncertain significance |
| rs143566182 | X:113,965,791 | G/C | — | likely benign |
| rs1448152418 | X:113,965,839 | C/T | — | uncertain significance |
| rs1173878618 | X:113,965,845 | A/G | — | uncertain significance |
| rs371347099 | X:113,965,848 | G/A | — | uncertain significance |
| rs2069536599 | X:113,965,870 | T/C | — | uncertain significance |
| rs2497525 | X:113,995,824 | T/C | upstream gene variant | — |
| rs2428707 | X:114,000,359 | C/T | downstream gene variant | — |
| rs147162016 | X:114,082,582 | A/G | — | likely benign |
| rs2521934398 | X:114,082,646 | C/A | — | uncertain significance |
| rs193920954 | X:114,082,718 | C/T | — | uncertain significance |
| rs139581423 | X:114,082,728 | C/T | — | likely benign |
| rs4272555 | X:114,083,625 | T/G | — | — |
| rs1414334 | X:114,138,144 | C/G | upstream gene variant | benign |
| rs149710250 | X:114,141,154 | G/A | — | uncertain significance |
| rs144618891 | X:114,141,165 | T/C | — | likely benign |
| rs781957272 | X:114,141,261 | C/T | — | likely benign |
| rs148470204 | X:114,141,379 | A/G | — | likely benign |
| rs146559807 | X:114,141,434 | C/G | — | uncertain significance |
| rs782711180 | X:114,141,480 | G/A | — | likely benign |
| rs2071379576 | X:114,141,493 | G/A | — | uncertain significance |
| rs1556487133 | X:114,141,530 | C/T | — | uncertain significance |
| rs201244838 | X:114,141,586 | A/G | — | uncertain significance |
| rs143723100 | X:114,141,603 | T/G | — | likely benign |
| rs782541939 | X:114,141,611 | G/T | — | uncertain significance |
| rs1203262132 | X:114,141,612 | T/C | — | likely benign |
| rs200450984 | X:114,141,721 | A/C | — | uncertain significance |
| rs369475254 | X:114,141,767 | T/C | — | likely benign |
| rs2071382276 | X:114,141,771 | G/T | — | not provided |
| rs2522061579 | X:114,141,781 | C/T | — | uncertain significance |
| rs1039799135 | X:114,141,792 | G/C | — | uncertain significance |
| rs199725654 | X:114,141,827 | G/A | — | uncertain significance |
| rs200550483 | X:114,141,831 | G/A | — | likely benign |
| rs2071383082 | X:114,141,851 | G/A | — | uncertain significance |
| rs1556487312 | X:114,141,852 | G/A | — | likely benign |
| rs76454046 | X:114,141,856 | A/G | — | likely benign |
| rs201434349 | X:114,141,873 | C/T | — | likely benign |
| rs782209448 | X:114,141,913 | G/C | — | uncertain significance |
| rs200841726 | X:114,141,980 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.