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OR52E1

Synonyms
OR52E1P
External resources
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. 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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
39
Likely pathogenic
1
VUS
460
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on OR52E1 gene are displayed below. The following symptoms were found in patients with a variant in OR52E1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.4%
Abnormality of the cardiovascular system
27%
Abnormality of the musculoskeletal system
24.3%
Abnormality of head or neck
18.9%
Abnormality of the ear
16.2%
Growth abnormality
16.2%
Abnormality of metabolism homeostasis
13.5%
Abnormality of the eye
13.5%
Abnormality of the genitourinary system
13.5%
Abnormality of the immune system
10.8%
Abnormality of the integument
10.8%
Abnormality of blood and blood forming tissues
5.4%
Abnormality of limbs
5.4%
Neoplasm
5.4%
Abnormality of the digestive system
2.7%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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