OR2L13

Chr 1

olfactory receptor family 2 subfamily L member 13

Also known as: OR2L14

NCBI Gene: 284521 ENSG00000196071 UniProt: Q8N349

OR2L13 encodes an olfactory receptor that detects odorant molecules in the nose and initiates G protein-coupled signaling to trigger smell perception. This gene shows very low constraint against loss-of-function variants (pLI = 0.001, LOEUF = 1.58), and no Mendelian diseases have been associated with OR2L13 mutations in current databases. Olfactory receptor genes like OR2L13 are generally considered to have little clinical significance in pediatric neurology practice.

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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.58

LOEUF

Multiple*

Mechanism· predicted