OR8D2

Chr 11

olfactory receptor family 8 subfamily D member 2

Also known as: JCG2

NCBI Gene: 283160 ENSG00000279116 UniProt: Q9GZM6

OR8D2 encodes an olfactory receptor that interacts with odorant molecules to initiate neuronal responses triggering smell perception and may be involved in taste perception. This gene is a segregating pseudogene where some individuals carry functional alleles while others have non-functional variants, but no specific diseases have been established from OR8D2 mutations. The gene shows low constraint to loss-of-function variation (pLI = 0.21, LOEUF = 1.49), consistent with tolerance to functional loss.

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, Jun 2015]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.49

LOEUF

Multiple*

Mechanism· predicted