GHSR
growth hormone secretagogue receptor
Summary
This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
Known Variants200 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542528748 | 3:172,161,094 | C/T | — | uncertain significance |
| rs886058178 | 3:172,161,119 | C/T | — | uncertain significance |
| rs762604209 | 3:172,161,136 | G/C | — | uncertain significance |
| rs1027380860 | 3:172,161,146 | C/T | — | uncertain significance |
| rs190145519 | 3:172,161,176 | C/T | — | likely benign |
| rs28476722 | 3:172,161,215 | T/C | — | benign |
| rs115001188 | 3:172,161,223 | T/C | — | likely benign |
| rs544610571 | 3:172,161,239 | A/T | — | uncertain significance |
| rs886058179 | 3:172,161,343 | G/A | — | uncertain significance |
| rs754352155 | 3:172,161,397 | G/A | — | uncertain significance |
| rs1737390852 | 3:172,161,419 | G/C | — | uncertain significance |
| rs886058180 | 3:172,161,445 | G/T | — | uncertain significance |
| rs897265075 | 3:172,161,506 | T/C | — | uncertain significance |
| rs886058181 | 3:172,161,606 | C/A | — | uncertain significance |
| rs73039028 | 3:172,161,643 | A/C | — | benign |
| rs755925335 | 3:172,161,683 | A/G | — | uncertain significance |
| rs139844524 | 3:172,161,790 | G/A | — | likely benign |
| rs182732562 | 3:172,161,793 | C/T | — | likely benign |
| rs562416 | 3:172,161,842 | C/A | — | benign |
| rs1370544333 | 3:172,161,878 | T/C | — | uncertain significance |
| rs756728640 | 3:172,161,905 | A/T | — | uncertain significance |
| rs9880206 | 3:172,161,927 | C/G | — | benign |
| rs1048584905 | 3:172,162,001 | T/G | — | uncertain significance |
| rs886058182 | 3:172,162,109 | A/T | — | uncertain significance |
| rs555579461 | 3:172,162,111 | T/C | — | uncertain significance |
| rs565105 | 3:172,162,117 | G/T | — | benign |
| rs535110477 | 3:172,162,122 | G/T | — | likely benign |
| rs147683685 | 3:172,162,138 | T/C | — | likely benign |
| rs58550930 | 3:172,162,155 | T/A | — | benign |
| rs9880652 | 3:172,162,159 | C/G | — | benign |
| rs886058183 | 3:172,162,193 | C/T | — | uncertain significance |
| rs1737411272 | 3:172,162,204 | C/A | — | uncertain significance |
| rs1737412640 | 3:172,162,275 | G/A | — | uncertain significance |
| rs934278446 | 3:172,162,439 | T/C | — | uncertain significance |
| rs886058184 | 3:172,162,479 | G/A | — | uncertain significance |
| rs139778759 | 3:172,162,553 | G/A | — | likely benign |
| rs183870776 | 3:172,162,573 | A/G | — | likely benign |
| rs886058185 | 3:172,162,651 | C/T | — | uncertain significance |
| rs543920867 | 3:172,162,657 | G/T | — | uncertain significance |
| rs482204 | 3:172,162,829 | A/G | — | benign |
| rs477251 | 3:172,162,837 | T/C | — | benign |
| rs1737427719 | 3:172,162,946 | C/T | — | uncertain significance |
| rs761238826 | 3:172,162,964 | C/T | — | uncertain significance |
| rs2108424742 | 3:172,162,966 | A/T | — | likely benign |
| rs150344113 | 3:172,162,980 | C/T | — | conflicting classifications of pathogenicity |
| rs202112906 | 3:172,162,982 | C/T | — | conflicting classifications of pathogenicity |
| rs750603863 | 3:172,162,983 | G/A | — | uncertain significance |
| rs138063648 | 3:172,162,987 | A/T | — | uncertain significance |
| rs777016625 | 3:172,163,001 | G/A | — | uncertain significance |
| rs200633078 | 3:172,163,003 | G/C | — | uncertain significance |
| rs2108424784 | 3:172,163,010 | G/A | — | uncertain significance |
| rs73039031 | 3:172,163,023 | G/A | — | likely benign |
| rs144720427 | 3:172,163,032 | G/A | — | likely benign |
| rs138507814 | 3:172,163,035 | T/C | — | conflicting classifications of pathogenicity |
| rs2473554247 | 3:172,163,038 | C/T | — | likely benign |
| rs1737431151 | 3:172,163,054 | G/A | — | uncertain significance |
| rs201943862 | 3:172,163,058 | C/G | — | uncertain significance |
| rs201162557 | 3:172,163,061 | G/A | — | uncertain significance |
| rs374781943 | 3:172,163,074 | C/T | — | uncertain significance |
| rs149249522 | 3:172,163,078 | A/T | — | uncertain significance |
| rs758019664 | 3:172,163,080 | G/A | — | likely benign |
| rs868728152 | 3:172,163,093 | G/T | — | uncertain significance |
| rs2473554446 | 3:172,163,112 | G/A | — | uncertain significance |
| rs145560801 | 3:172,163,128 | G/C | — | conflicting classifications of pathogenicity |
| rs1737433699 | 3:172,163,158 | A/G | — | likely benign |
| rs1219747836 | 3:172,163,178 | G/A | — | uncertain significance |
| rs750378561 | 3:172,163,186 | G/A | — | uncertain significance |
| rs148371213 | 3:172,163,205 | G/A | — | uncertain significance |
| rs2473554603 | 3:172,163,220 | G/T | — | uncertain significance |
| rs1438853850 | 3:172,163,221 | G/A | — | likely benign |
| rs747711156 | 3:172,163,223 | G/A | — | uncertain significance |
| rs769452962 | 3:172,163,228 | C/G | — | uncertain significance |
| rs199599995 | 3:172,163,229 | A/G | — | conflicting classifications of pathogenicity |
| rs771146868 | 3:172,163,232 | G/A | — | uncertain significance |
| rs976486097 | 3:172,163,233 | G/A | — | likely benign |
| rs141596022 | 3:172,163,235 | T/C | — | likely benign |
| rs201549876 | 3:172,163,236 | G/A | — | likely benign |
| rs368492040 | 3:172,163,252 | A/G | — | uncertain significance |
| rs2473554737 | 3:172,163,264 | A/T | — | uncertain significance |
| rs509035 | 3:172,163,449 | G/A | intron variant | benign |
| rs2948694 | 3:172,165,163 | A/G | intron variant | benign |
| rs199996728 | 3:172,165,390 | G/A | — | likely benign |
| rs780409681 | 3:172,165,394 | G/A | — | likely benign |
| rs769797070 | 3:172,165,412 | C/T | — | uncertain significance |
| rs1163068621 | 3:172,165,425 | T/G | — | uncertain significance |
| rs140134927 | 3:172,165,427 | C/A | — | uncertain significance |
| rs2473556925 | 3:172,165,431 | T/C | — | uncertain significance |
| rs200280329 | 3:172,165,432 | G/A | — | uncertain significance |
| rs200367696 | 3:172,165,449 | G/A | — | uncertain significance |
| rs759356763 | 3:172,165,459 | C/A | — | uncertain significance |
| rs1188150090 | 3:172,165,467 | T/G | — | uncertain significance |
| rs1176554055 | 3:172,165,471 | C/T | — | uncertain significance |
| rs748324067 | 3:172,165,491 | T/C | — | uncertain significance |
| rs777777248 | 3:172,165,494 | C/T | — | uncertain significance |
| rs199588904 | 3:172,165,495 | T/A | missense variant | uncertain significance |
| rs2473557057 | 3:172,165,500 | A/G | — | uncertain significance |
| rs772178400 | 3:172,165,501 | T/C | — | uncertain significance |
| rs375698769 | 3:172,165,502 | G/A | — | likely benign |
| rs200804910 | 3:172,165,518 | G/A | — | uncertain significance |
| rs2108426201 | 3:172,165,534 | G/C | — | uncertain significance |
Showing 100 of 200 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.