OR2T5

Chr 1

olfactory receptor family 2 subfamily T member 5

Also known as: OR1-62

NCBI Gene: 401993 ENSG00000203661 UniProt: Q6IEZ7

OR2T5 encodes an olfactory receptor that binds odorant molecules in the nasal epithelium and initiates G-protein coupled signaling cascades to trigger smell perception. No Mendelian diseases have been definitively associated with OR2T5 mutations in current databases. The gene shows moderate tolerance to loss-of-function variation (pLI = 0.47, LOEUF = 1.48), consistent with most olfactory receptor genes.

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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