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OR52K2

Synonyms
OR11-7
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
2
Likely pathogenic
6
VUS
535
Likely benign
85
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on OR52K2 gene are displayed below. The following symptoms were found in patients with a variant in OR52K2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
62.5%
Abnormality of the nervous system
62.5%
Abnormality of the eye
50%
Growth abnormality
50%
Abnormality of head or neck
37.5%
Abnormality of the ear
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of the immune system
25%
Abnormal cellular phenotype
12.5%
Abnormality of blood and blood forming tissues
12.5%
Abnormality of limbs
12.5%
Abnormality of metabolism homeostasis
12.5%
Abnormality of the integument
12.5%
Abnormality of the respiratory system
12.5%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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