| GENE NAME | GHR |
| CHROMOSOME | 5 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000112964 |
| UNIPROT ACCESSION NUMBER | P10912 |
| GO MOLECULAR FUNCTION | ['peptide hormone binding', 'proline-rich region binding', 'SH2 domain binding', 'growth hormone receptor activity', 'protein kinase binding', 'cytokine binding', 'protein phosphatase binding', 'protein binding', 'growth factor binding', 'protein homodimerization activity', 'cytokine receptor activity', 'identical protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04060; hsa04080; hsa04151; hsa04630; hsa04935; R-HSA-1170546; R-HSA-1280215; R-HSA-168256; R-HSA-982772 |
| 10 combinations linked to GHR | OLI1559; OLI1555; OLI906; OLI1579; OLI1532; OLI1538; OLI911; OLI1545; OLI1533; OLI1541 |
| 9 variants linked to GHR | GHR:c.497G>A, p.Gly166Glu; GHR:c.1855A>G, p.Lys619Glu; GHR:c.1007A>G, p.His336Arg; GHR:c.613G>A, p.Glu205Lys; GHR:c.427G>T, p.Val143Leu; GHR:c.1516G>A, p.Val506Met; GHR:c.1563T>G, p.Cys521Trp; GHR:c.1449C>G, p.Ser483Arg; GHR:c.1601A>T, p.Asn534Ile |
| 3 diseases linked to GHR | Normosmic congenital hypogonadotropic hypogonadism; 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |