OR2S2

Chr 9

olfactory receptor family 2 subfamily S member 2

Also known as: OR37A, OST715

NCBI Gene: 56656 ENSG00000278889 UniProt: Q9NQN1

The OR2S2 protein is an olfactory receptor that interacts with odorant molecules to initiate neuronal responses triggering smell perception through G-protein-coupled receptor signaling. This gene is a segregating pseudogene where some individuals carry functional alleles while others have non-functional variants, and it shows very low constraint to loss-of-function variation in the population. No established Mendelian diseases are currently associated with OR2S2 mutations.

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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)