GPBAR1

G protein-coupled bile acid receptor 1

Summary

This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Known Variants94 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs28665899	2:219,123,043	T/G	—	—
rs3731859	2:219,124,222	G/T	—	—
rs13003334	2:219,124,921	T/A	downstream gene variant	—
rs200558126	2:219,127,447	G/A	—	uncertain significance
rs201145373	2:219,127,468	C/G	—	benign
rs747879212	2:219,127,481	C/G	—	uncertain significance
rs1242848802	2:219,127,517	C/T	—	uncertain significance
rs1559489311	2:219,127,520	G/A	—	uncertain significance
rs200372604	2:219,127,537	C/G	—	uncertain significance
rs778821198	2:219,127,540	G/A	—	uncertain significance
rs747708687	2:219,127,542	A/G	—	uncertain significance
rs1341204755	2:219,127,559	G/C	—	uncertain significance
rs770486496	2:219,127,564	C/T	—	likely benign
rs907641202	2:219,127,575	G/A	—	uncertain significance
rs763662195	2:219,127,584	G/A	—	uncertain significance
rs1156510444	2:219,127,598	G/A	—	uncertain significance
rs1198581043	2:219,127,600	C/T	—	likely benign
rs111925653	2:219,127,636	C/T	—	uncertain significance
rs754969786	2:219,127,643	C/G	—	uncertain significance
rs764902875	2:219,127,649	T/C	—	likely benign
rs746731355	2:219,127,669	G/A	—	likely benign
rs199822804	2:219,127,682	C/T	—	uncertain significance
rs200126718	2:219,127,685	C/T	—	uncertain significance
rs201747442	2:219,127,686	G/A	—	uncertain significance
rs181236250	2:219,127,709	G/A	—	uncertain significance
rs767660471	2:219,127,740	C/T	—	uncertain significance
rs199941566	2:219,127,768	C/T	—	uncertain significance
rs576819656	2:219,127,769	G/C	—	likely benign
rs201091893	2:219,127,771	G/A	—	uncertain significance
rs186702546	2:219,127,776	G/A	—	uncertain significance
rs201129128	2:219,127,780	C/T	—	uncertain significance
rs202032682	2:219,127,781	A/G	—	uncertain significance
rs201272591	2:219,127,785	C/T	—	uncertain significance
rs1238983352	2:219,127,787	G/A	—	uncertain significance
rs1559489887	2:219,127,793	A/G	—	uncertain significance
rs200257647	2:219,127,820	C/T	—	uncertain significance
rs2469238884	2:219,127,832	C/G	—	uncertain significance
rs1039057957	2:219,127,840	C/G	—	likely benign
rs554480858	2:219,127,843	G/A	—	uncertain significance
rs750106315	2:219,127,846	T/A	—	likely benign
rs201897222	2:219,127,872	C/T	—	uncertain significance
rs199613196	2:219,127,873	C/T	—	likely benign
rs200722201	2:219,127,874	G/A	—	uncertain significance
rs201881617	2:219,127,889	C/T	—	uncertain significance
rs138439621	2:219,127,905	C/T	—	likely benign
rs768592890	2:219,127,910	T/C	—	uncertain significance
rs200096596	2:219,127,952	G/A	—	benign
rs1448077923	2:219,127,959	A/G	—	uncertain significance
rs201264973	2:219,127,964	C/T	—	uncertain significance
rs758760146	2:219,127,972	G/A	—	likely benign
rs202154681	2:219,127,975	C/T	—	uncertain significance
rs200360810	2:219,127,978	C/T	—	uncertain significance
rs989783695	2:219,127,982	G/A	—	uncertain significance
rs200183179	2:219,128,006	C/T	—	uncertain significance
rs201063611	2:219,128,007	G/A	—	uncertain significance
rs199637113	2:219,128,009	G/A	—	uncertain significance
rs764881762	2:219,128,027	C/T	—	uncertain significance
rs201565188	2:219,128,031	A/C	—	uncertain significance
rs756161981	2:219,128,048	C/T	—	uncertain significance
rs199514423	2:219,128,049	G/A	—	uncertain significance
rs532575824	2:219,128,053	G/A	—	likely benign
rs945931617	2:219,128,054	G/A	—	uncertain significance
rs540933933	2:219,128,055	A/T	—	uncertain significance
rs201761361	2:219,128,058	G/A	—	uncertain significance
rs376966143	2:219,128,070	G/A	—	uncertain significance
rs150118963	2:219,128,083	C/T	—	likely benign
rs201635895	2:219,128,084	G/A	—	uncertain significance
rs200890305	2:219,128,094	G/A	—	uncertain significance
rs116219220	2:219,128,095	G/C	—	benign
rs149245876	2:219,128,096	G/C	—	likely benign
rs1182088168	2:219,128,105	T/C	—	uncertain significance
rs958463098	2:219,128,133	C/T	—	uncertain significance
rs200077654	2:219,128,146	C/T	—	uncertain significance
rs201017530	2:219,128,148	G/T	—	uncertain significance
rs202132344	2:219,128,165	T/G	—	uncertain significance
rs200340218	2:219,128,167	C/T	—	likely benign
rs201586913	2:219,128,207	C/T	—	uncertain significance
rs753986195	2:219,128,258	G/A	—	uncertain significance
rs759826576	2:219,128,260	C/T	—	likely benign
rs144467445	2:219,128,261	A/G	—	uncertain significance
rs200468807	2:219,128,269	G/A	—	likely benign
rs201573186	2:219,128,304	G/A	—	uncertain significance
rs190689957	2:219,128,320	G/C	—	uncertain significance
rs199517286	2:219,128,329	C/T	—	uncertain significance
rs115448647	2:219,128,334	A/G	—	benign
rs200857397	2:219,128,350	G/A	—	likely benign
rs201236854	2:219,128,369	C/T	—	uncertain significance
rs200024655	2:219,128,370	G/A	—	uncertain significance
rs199838633	2:219,128,381	G/A	—	uncertain significance
rs202200326	2:219,128,422	C/T	—	uncertain significance
rs200372685	2:219,128,423	G/A	—	uncertain significance
rs201528234	2:219,128,427	T/C	—	uncertain significance
rs200266946	2:219,128,432	T/A	—	uncertain significance
rs749450128	2:219,128,449	C/T	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.