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OR6B2

Synonyms
OR2-1, OR6B2P
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
31
Likely pathogenic
18
VUS
3,370
Likely benign
666
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on OR6B2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
55.1%
Abnormality of the nervous system
53.1%
Abnormality of head or neck
38.8%
Abnormality of the cardiovascular system
24.5%
Abnormality of the eye
22.4%
Abnormality of the ear
20.4%
Growth abnormality
16.3%
Abnormality of the digestive system
14.3%
Abnormality of limbs
12.2%
Abnormality of the integument
12.2%
Abnormality of blood and blood-forming tissues
10.2%
Abnormality of the immune system
10.2%
Abnormality of the genitourinary system
8.2%
Abnormality of the respiratory system
6.1%
Abnormality of prenatal development or birth
4.1%
Neoplasm
4.1%
Abnormality of the thoracic cavity
2%
Constitutional symptom
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the voice
0%

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