OR1A2

Chr 17

olfactory receptor family 1 subfamily A member 2

Also known as: OR17-6

NCBI Gene: 26189 ENSG00000172150 UniProt: Q9Y585 OMIM: 618047

OR1A2 encodes an olfactory receptor that recognizes and transduces odorant signals through G-protein coupled receptor signaling in the nasal epithelium. This gene shows low constraint to loss-of-function variation (pLI = 0.03, LOEUF = 1.34), and no Mendelian disorders have been definitively associated with OR1A2 mutations in the current literature.

OMIM ResearchSummary from RefSeq, UniProt

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

Multiple*

Mechanism· predicted