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HTR3E

Synonyms
5-HT3-E, 5-HT3E, 5-HT3c1
External resources
Summary
This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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
41
Likely pathogenic
72
VUS
3,745
Likely benign
714
Benign
0

Patient Phenotypes

Proportions of phenotypes among 111 patients carrying pathogenic or likely pathogenic variants on HTR3E gene are displayed below. The following symptoms were found in patients with a variant in HTR3E. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.7%
Abnormality of the musculoskeletal system
25.2%
Abnormality of the ear
23.4%
Abnormality of the cardiovascular system
18.9%
Abnormality of head or neck
17.1%
Abnormality of the eye
17.1%
Growth abnormality
14.4%
Abnormality of limbs
11.7%
Abnormality of the genitourinary system
9%
Abnormality of the integument
9%
Abnormality of the digestive system
8.1%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the immune system
6.3%
Abnormality of prenatal development or birth
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the respiratory system
3.6%
Abnormality of blood and blood forming tissues
2.7%
Neoplasm
1.8%
Abnormality of the voice
0.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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