Details for Gene GHR

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 OLI911; OLI1545; OLI1579; OLI1533; OLI1559; OLI1532; OLI1541; OLI906; OLI1555; OLI1538
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

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