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OR2T2

Synonyms
OR1-43, OR2T2P
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
151
Likely pathogenic
645
VUS
3,041
Likely benign
237
Benign
0

Patient Phenotypes

Proportions of phenotypes among 785 patients carrying pathogenic or likely pathogenic variants on OR2T2 gene are displayed below. The following symptoms were found in patients with a variant in OR2T2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.6%
Abnormality of the musculoskeletal system
25.9%
Abnormality of head or neck
19.5%
Abnormality of the cardiovascular system
18%
Abnormality of the ear
16.8%
Abnormality of the eye
15.3%
Growth abnormality
12.9%
Abnormality of the genitourinary system
8.9%
Abnormality of limbs
7.5%
Abnormality of the integument
6%
Abnormality of metabolism homeostasis
5.9%
Abnormality of the digestive system
5.4%
Abnormality of blood and blood forming tissues
4.7%
Abnormality of the immune system
4.2%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.2%
Abnormality of prenatal development or birth
3.1%
Neoplasm
2.2%
Abnormality of the breast
1.1%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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