DISEASES

Disease-gene associations mined from literature

Literature associating OR51E2 and gnathodiaphyseal dysplasia

OR51E2 [ENSP00000380153]

Olfactory receptor 51E2; Olfactory receptor . Activated by the odorant, beta-ionone, a synthetic terpenoid . The activity of this receptor is propably mediated by G-proteins leading to the elevation of intracellular Ca(2+), cAMP and activation of the protein kinases PKA and MAPK3/MAPK1 . Stimulation of OR51E2 by beta-ionone affects melanocyte proliferation, differentiation, and melanogenesis . Activation of OR51E2 by beta-ionone increases proliferation and migration of primary retinal pigment epithelial (RPE) cells . Activated also by the short-chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure . May also be activated by steroid hormones and regulate cell proliferation . Activated by L-lactate in glomus cells (By similarity). ECO:0000269|PubMed:23401498, ECO:0000269|PubMed:27226631,

Synonyms:  OR51E2,  OR51E2p,  hOR51E2,  A0A126GVK0,  E9PPJ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM