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HTR3B

Synonyms
5-HT3B
External resources
Summary
The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It is not functional as a homomeric complex, but a pentaheteromeric complex with subunit A (HTR3A) displays the full functional features of this receptor.

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
17
Likely pathogenic
0
VUS
1,249
Likely benign
644
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on HTR3B gene are displayed below. The following symptoms were found in patients with a variant in HTR3B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
29.4%
Abnormality of metabolism homeostasis
23.5%
Abnormality of the nervous system
23.5%
Abnormality of the eye
17.6%
Abnormality of the genitourinary system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of the endocrine system
11.8%
Abnormality of head or neck
5.9%
Abnormality of the digestive system
5.9%
Abnormality of the ear
5.9%
Abnormality of the respiratory system
5.9%
Constitutional symptom
5.9%
Growth abnormality
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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