GNRH2
gonadotropin releasing hormone 2
Summary
This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3761243 | 20:3,023,022 | A/G | — | — |
| rs6115764 | 20:3,024,914 | G/C | upstream gene variant | — |
| rs142022310 | 20:3,025,113 | T/C | — | likely benign |
| rs61729220 | 20:3,025,330 | G/A | — | benign |
| rs115742898 | 20:3,025,389 | C/T | — | benign |
| rs774536105 | 20:3,025,432 | A/G | — | uncertain significance |
| rs574087164 | 20:3,025,433 | C/T | — | likely benign |
| rs574167336 | 20:3,026,332 | A/G | — | uncertain significance |
| rs762613660 | 20:3,026,344 | G/A | — | uncertain significance |
| rs544846287 | 20:3,026,345 | A/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.