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OR2T8

Synonyms
OR2T8P
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
40
Likely pathogenic
127
VUS
13,236
Likely benign
1,366
Benign
0

Patient Phenotypes

Proportions of phenotypes among 165 patients carrying pathogenic or likely pathogenic variants on OR2T8 gene are displayed below. The following symptoms were found in patients with a variant in OR2T8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.2%
Abnormality of the eye
34.5%
Abnormality of the musculoskeletal system
28.5%
Abnormality of head or neck
17%
Abnormality of the cardiovascular system
15.2%
Abnormality of the integument
11.5%
Growth abnormality
10.3%
Abnormality of limbs
9.1%
Abnormality of the ear
9.1%
Abnormality of metabolism homeostasis
8.5%
Abnormality of the digestive system
7.9%
Abnormality of the immune system
7.3%
Abnormality of the genitourinary system
5.5%
Abnormality of blood and blood forming tissues
4.8%
Neoplasm
4.8%
Abnormality of the endocrine system
3.6%
Abnormality of the respiratory system
2.4%
Abnormality of prenatal development or birth
1.8%
Abnormality of the breast
1.2%
Abnormality of the voice
0.6%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%

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