PTH2R

parathyroid hormone 2 receptor

Summary

The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Known Variants63 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs569003275	2:209,260,855	C/T	—	—
rs115357300	2:209,262,439	G/A	intron variant	—
rs142146558	2:209,271,774	C/A	—	likely benign
rs141998745	2:209,271,796	G/A	—	uncertain significance
rs556412837	2:209,271,848	G/A	—	likely benign
rs753962657	2:209,271,851	C/G	—	likely benign
rs2471213743	2:209,292,930	A/T	—	uncertain significance
rs570044268	2:209,292,942	C/A	—	uncertain significance
rs145269926	2:209,292,950	A/G	—	uncertain significance
rs759604231	2:209,293,016	C/G	—	uncertain significance
rs149466803	2:209,297,257	T/C	intron variant	—
rs61742329	2:209,302,328	C/A	—	likely benign
rs989714149	2:209,302,333	G/T	—	uncertain significance
rs1344509567	2:209,302,346	C/T	—	uncertain significance
rs759373744	2:209,302,355	A/G	—	likely benign
rs763579213	2:209,302,512	A/G	—	uncertain significance
rs1702105570	2:209,302,513	T/A	—	uncertain significance
rs1702106105	2:209,302,545	A/C	—	uncertain significance
rs145832158	2:209,302,553	G/A	—	uncertain significance
rs775369232	2:209,302,568	T/A	—	uncertain significance
rs373798724	2:209,302,574	C/T	—	uncertain significance
rs368882772	2:209,302,589	G/A	—	uncertain significance
rs1417403307	2:209,307,110	T/C	—	uncertain significance
rs1553546045	2:209,307,150	C/T	—	likely pathogenic
rs2471244306	2:209,307,167	C/T	—	uncertain significance
rs774742460	2:209,308,084	G/A	—	uncertain significance
rs149297616	2:209,308,116	G/A	—	uncertain significance
rs143633380	2:209,308,145	C/G	—	uncertain significance
rs1294824444	2:209,308,188	G/A	—	uncertain significance
rs2471247259	2:209,308,226	T/G	—	uncertain significance
rs143390240	2:209,309,554	C/G	—	uncertain significance
rs745884138	2:209,309,579	A/G	—	uncertain significance
rs148627602	2:209,309,610	G/A	—	likely benign
rs552308424	2:209,324,629	A/G	—	benign
rs2468875172	2:209,324,631	T/C	—	uncertain significance
rs766822310	2:209,324,667	C/T	—	uncertain significance
rs61741765	2:209,324,668	G/A	—	benign
rs201410409	2:209,329,719	G/A	—	—
rs897083	2:209,342,094	A/G	intron variant	—
rs182530906	2:209,345,821	G/A	—	likely benign
rs151296979	2:209,345,847	G/T	—	uncertain significance
rs200546229	2:209,345,897	C/T	—	likely benign
rs191209969	2:209,353,730	C/T	—	benign
rs16841294	2:209,353,800	A/G	—	benign
rs1703342492	2:209,353,822	G/C	—	uncertain significance
rs776936901	2:209,353,828	G/C	—	uncertain significance
rs748579229	2:209,353,867	T/C	—	uncertain significance
rs147367858	2:209,354,966	G/T	intron variant	—
rs548674825	2:209,355,383	T/C	—	uncertain significance
rs1254671974	2:209,357,989	G/T	—	uncertain significance
rs756732628	2:209,358,055	C/A	—	uncertain significance
rs372739533	2:209,358,067	C/T	—	uncertain significance
rs374399772	2:209,358,076	G/A	—	uncertain significance
rs577817764	2:209,358,094	G/A	—	uncertain significance
rs755982377	2:209,358,152	T/G	—	uncertain significance
rs747786879	2:209,358,166	G/A	—	likely benign
rs1001304263	2:209,358,171	G/C	—	uncertain significance
rs559527804	2:209,358,175	G/A	—	uncertain significance
rs140566891	2:209,358,262	G/A	—	uncertain significance
rs201505451	2:209,358,271	A/G	—	likely benign
rs150327079	2:209,358,328	A/G	—	uncertain significance
rs2468927382	2:209,358,372	G/C	—	uncertain significance
rs1337363882	2:209,358,373	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.