HTR4

5-hydroxytryptamine receptor 4

Summary

This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]

Known Variants44 total

rsidPosition (GRCh37)AllelesClassClinVar
rs111680485:147,842,353T/Cintron variant
rs39950905:147,845,815A/G
rs77330885:147,856,333G/C
rs2018135755:147,862,804T/Guncertain significance
rs348267445:147,862,818C/Tbenign
rs2014322935:147,862,843A/Guncertain significance
rs11659975105:147,862,849C/Tuncertain significance
rs1443164815:147,863,852T/Cbenign
rs1504517765:147,863,916A/Guncertain significance
rs131642945:147,871,219C/A
rs340704475:147,871,508A/Gregulatory region variant
rs19738775:147,871,966G/Aintron variant
rs18830745:147,873,750T/Cintron variant
rs39577815:147,874,688G/Aintron variant
rs68814985:147,880,181A/T
rs119495535:147,883,294C/G
rs97161645:147,884,668C/A
rs45542035:147,886,011G/Aintron variant
rs42649325:147,886,367C/Gintron variant
rs96867855:147,886,776C/A
rs12864856935:147,888,808G/Tuncertain significance
rs348041345:147,889,027A/Gbenign
rs2005817815:147,889,028T/Cuncertain significance
rs1999124775:147,889,133C/Tuncertain significance
rs25320194125:147,889,150C/Guncertain significance
rs1403877135:147,889,346C/Tuncertain significance
rs2006977975:147,889,355C/Tuncertain significance
rs2001387875:147,889,386C/Tuncertain significance
rs25320211185:147,889,451A/Tuncertain significance
rs2012413195:147,889,454C/Tuncertain significance
rs25320213305:147,889,502A/Guncertain significance
rs2013929765:147,889,517G/Auncertain significance
rs2006586055:147,889,564C/Guncertain significance
rs1998897465:147,889,577C/Tuncertain significance
rs13683865:147,895,138G/C
rs1860992165:147,902,854G/Tuncertain significance
rs93251045:147,923,377A/C
rs13853324415:147,928,379C/Tuncertain significance
rs2003879745:147,929,757A/Guncertain significance
rs617330685:147,929,809C/Tlikely benign
rs358051855:147,959,411C/Tintron variant
rs11787765925:148,009,331C/Tlikely benign
rs25323260305:148,016,198G/Tbenign
rs559263305:148,031,051C/G

Gene information from NCBI Gene. Variant classifications from ClinVar.