OR2M4

Chr 1

olfactory receptor family 2 subfamily M member 4

Also known as: HSHTPCRX18, HTPCRX18, OR1-55, OST710, TPCR100

NCBI Gene: 26245 ENSG00000171180 UniProt: Q96R27

OR2M4 encodes an olfactory receptor, a G-protein-coupled receptor that binds odorant molecules in the nose and initiates neuronal responses for smell perception through G-protein-mediated signal transduction. This gene shows low constraint against loss-of-function variants (pLI 0.003, LOEUF 1.67), and no clear Mendelian disease associations have been established for OR2M4 mutations in pediatric populations.

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

1.67

LOEUF

Multiple*

Mechanism· predicted