Home > Gene Browser > OR2AJ1
OR2AJ1
- Synonyms
- OR2AJ1P, OR2AJ1Q
- External resources
- NCBI127608
- EnsemblENSG00000177275
- HGNCHGNC:15001
- Summary
- 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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 0
- Likely pathogenic
- 0
- VUS
- 54,706
- Likely benign
- 12
- Benign
- 0
Patient phenotypes
No patients carry pathogenic or likely pathogenic variants on OR2AJ1 gene.
- Phenotype class
- Patients in 3billion (%)
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