GHRL
ghrelin and obestatin prepropeptide
Summary
This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35683 | 3:10,328,250 | A/C | downstream gene variant | benign |
| rs1699129967 | 3:10,328,408 | A/T | — | uncertain significance |
| rs4684677 | 3:10,328,453 | T/A | missense variant | risk factor |
| rs376856625 | 3:10,328,457 | C/T | — | uncertain significance |
| rs201358681 | 3:10,328,483 | A/G | — | uncertain significance |
| rs35682 | 3:10,328,782 | G/A | regulatory region variant | benign |
| rs2075356 | 3:10,328,809 | T/C | — | benign |
| rs143729751 | 3:10,330,266 | G/T | downstream gene variant | — |
| rs42451 | 3:10,330,377 | C/G | — | — |
| rs35680 | 3:10,330,564 | C/G | — | — |
| rs533153287 | 3:10,331,444 | A/C | — | uncertain significance |
| rs696217 | 3:10,331,457 | G/T | missense variant | pathogenic |
| rs577387219 | 3:10,331,469 | C/A | — | uncertain significance |
| rs749962204 | 3:10,331,495 | G/A | — | uncertain significance |
| rs567867101 | 3:10,331,498 | C/T | — | likely benign |
| rs780132084 | 3:10,331,504 | C/A | — | uncertain significance |
| rs34911341 | 3:10,331,519 | C/T | missense variant | risk factor |
| rs182039551 | 3:10,331,598 | C/T | — | benign |
| rs368923730 | 3:10,331,758 | T/C | — | uncertain significance |
| rs2470359545 | 3:10,331,764 | C/G | — | uncertain significance |
| rs763897355 | 3:10,331,782 | A/G | — | uncertain significance |
| rs26802 | 3:10,332,365 | T/G | downstream gene variant | — |
| rs27647 | 3:10,332,468 | C/T | downstream gene variant | — |
| rs755167665 | 3:10,334,531 | C/T | — | uncertain significance |
| rs1629816 | 3:10,336,291 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.