HTR2B
5-hydroxytryptamine receptor 2B
Summary
This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2469421483 | 2:231,973,267 | T/G | — | uncertain significance |
| rs150480687 | 2:231,973,289 | G/T | — | uncertain significance |
| rs61731723 | 2:231,973,363 | G/A | — | benign |
| rs6736017 | 2:231,973,416 | T/C | — | benign |
| rs368672604 | 2:231,973,424 | C/T | — | likely benign |
| rs1167595328 | 2:231,973,434 | T/A | — | uncertain significance |
| rs180891719 | 2:231,973,446 | G/A | — | likely benign |
| rs77982984 | 2:231,973,515 | G/A | missense variant | — |
| rs776080221 | 2:231,973,692 | C/A | — | uncertain significance |
| rs371120289 | 2:231,973,723 | G/C | — | uncertain significance |
| rs1249116115 | 2:231,973,752 | C/T | — | uncertain significance |
| rs759094819 | 2:231,973,817 | G/A | — | uncertain significance |
| rs115328679 | 2:231,973,843 | C/T | — | benign |
| rs1695069005 | 2:231,973,862 | T/C | — | uncertain significance |
| rs765459624 | 2:231,973,911 | G/A | — | uncertain significance |
| rs564438017 | 2:231,973,941 | T/A | — | uncertain significance |
| rs61731725 | 2:231,974,055 | C/A | — | benign |
| rs181580625 | 2:231,978,491 | G/A | — | uncertain significance |
| rs1559236184 | 2:231,978,533 | T/C | — | uncertain significance |
| rs775831094 | 2:231,978,538 | C/T | — | uncertain significance |
| rs777732759 | 2:231,978,583 | A/G | — | uncertain significance |
| rs2469436918 | 2:231,978,628 | A/G | — | uncertain significance |
| rs1695246099 | 2:231,978,632 | G/T | — | uncertain significance |
| rs17440378 | 2:231,979,355 | C/G | — | — |
| rs10194776 | 2:231,980,019 | C/T | intron variant | — |
| rs16827801 | 2:231,980,777 | A/T | — | — |
| rs540835209 | 2:231,988,154 | G/T | — | uncertain significance |
| rs762471906 | 2:231,988,171 | A/G | — | uncertain significance |
| rs61731726 | 2:231,988,327 | C/T | — | benign |
| rs75246355 | 2:231,988,352 | T/C | — | uncertain significance |
| rs771884174 | 2:231,988,373 | T/A | — | uncertain significance |
| rs772533852 | 2:231,988,374 | C/G | — | uncertain significance |
| rs61731727 | 2:231,988,388 | A/G | — | benign |
| rs764960723 | 2:231,988,403 | C/T | — | uncertain significance |
| rs79874540 | 2:231,988,421 | G/A | stop gained | — |
| rs151324210 | 2:231,988,465 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.