Home > Gene Browser > OR52N5

OR52N5

Synonyms
OR11-62, OR52N5Q
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.

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
29
Likely pathogenic
68
VUS
186
Likely benign
90
Benign
0

Patient phenotypes

Proportions of phenotypes among 96 patients carring pathogenic or likely pathogenic variants on OR52N5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.8%
Abnormality of the musculoskeletal system
28.1%
Abnormality of the eye
24%
Abnormality of the cardiovascular system
17.7%
Abnormality of the ear
16.7%
Abnormality of head or neck
14.6%
Growth abnormality
13.5%
Abnormality of limbs
10.4%
Abnormality of the genitourinary system
10.4%
Abnormality of the integument
10.4%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the immune system
7.3%
Abnormality of prenatal development or birth
6.3%
Neoplasm
5.2%
Abnormality of the digestive system
4.2%
Abnormality of the endocrine system
3.1%
Abnormality of the respiratory system
2.1%
Abnormality of the voice
2.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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