HTR2A
5-hydroxytryptamine receptor 2A
Pharmacogene
Summary
This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3803189 | 13:47,408,570 | T/G | 3 prime UTR variant | — |
| rs3125 | 13:47,408,851 | C/G | 3 prime UTR variant | — |
| rs6314 | 13:47,409,034 | G/A | missense variant | — |
| rs6308 | 13:47,409,048 | G/A | — | likely benign |
| rs201018904 | 13:47,409,049 | C/T | — | uncertain significance |
| rs1593423658 | 13:47,409,128 | C/T | — | likely benign |
| rs770085362 | 13:47,409,290 | A/G | — | likely benign |
| rs1233136299 | 13:47,409,451 | G/T | — | uncertain significance |
| rs749574714 | 13:47,409,454 | T/C | — | uncertain significance |
| rs758390994 | 13:47,409,644 | G/A | — | likely benign |
| rs141413930 | 13:47,409,701 | G/A | — | benign |
| rs35480504 | 13:47,409,731 | C/T | — | likely benign |
| rs143289722 | 13:47,409,749 | A/G | synonymous variant | — |
| rs7322347 | 13:47,410,103 | T/A | intron variant | — |
| rs3742278 | 13:47,419,577 | A/G | intron variant | — |
| rs6561333 | 13:47,420,312 | T/C | intron variant | — |
| rs1923886 | 13:47,423,291 | C/T | upstream gene variant | — |
| rs7330461 | 13:47,423,565 | A/C | — | — |
| rs1745837 | 13:47,424,812 | C/A | — | — |
| rs655888 | 13:47,428,181 | T/C | coding sequence variant | — |
| rs2296972 | 13:47,428,471 | A/C | intron variant | — |
| rs643627 | 13:47,428,611 | T/C | intron variant | — |
| rs7984966 | 13:47,429,446 | T/C | intron variant | — |
| rs2224721 | 13:47,432,154 | T/C | — | — |
| rs9316233 | 13:47,433,355 | C/A | — | — |
| rs2770292 | 13:47,435,106 | C/G | downstream gene variant | — |
| rs659734 | 13:47,435,283 | G/A | downstream gene variant | — |
| rs1928042 | 13:47,437,216 | G/A | — | — |
| rs2770296 | 13:47,440,560 | C/T | regulatory region variant | — |
| rs1328674 | 13:47,441,707 | T/A | — | — |
| rs582385 | 13:47,445,994 | A/G | intron variant | — |
| rs1928040 | 13:47,447,236 | G/C | — | — |
| rs2770304 | 13:47,455,365 | C/T | intron variant | — |
| rs927544 | 13:47,456,051 | G/C | — | — |
| rs17288723 | 13:47,457,693 | T/C | intron variant | — |
| rs594242 | 13:47,458,052 | C/A | — | — |
| rs9534505 | 13:47,460,744 | A/T | — | — |
| rs756580138 | 13:47,466,584 | C/T | — | uncertain significance |
| rs909805204 | 13:47,466,667 | G/C | — | likely benign |
| rs754348347 | 13:47,466,719 | C/T | — | uncertain significance |
| rs2542234588 | 13:47,466,724 | C/T | — | likely benign |
| rs2070037 | 13:47,467,070 | T/C | intron variant | — |
| rs2138259808 | 13:47,469,629 | C/G | — | uncertain significance |
| rs2542239129 | 13:47,469,814 | C/A | — | uncertain significance |
| rs1190153612 | 13:47,469,856 | T/G | — | likely benign |
| rs1459537012 | 13:47,469,915 | A/C | — | uncertain significance |
| rs6313 | 13:47,469,940 | G/A | synonymous variant | likely benign |
| rs1332655388 | 13:47,469,956 | C/G | — | uncertain significance |
| rs150684157 | 13:47,469,991 | G/A | — | benign |
| rs532924268 | 13:47,470,035 | T/A | — | uncertain significance |
| rs7997012 | 13:47,471,478 | G/A | intronic | drug response |
| rs6311 | 13:47,471,478 | G/A | regulatory region variant | risk factor |
Gene information from NCBI Gene. Variant classifications from ClinVar.