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HTR3D

Synonyms
5HT3D
External resources
Summary
The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
12
Likely pathogenic
0
VUS
4,877
Likely benign
2,913
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on HTR3D gene are displayed below. The following symptoms were found in patients with a variant in HTR3D. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
41.7%
Abnormality of the eye
41.7%
Abnormality of limbs
25%
Abnormality of the genitourinary system
25%
Growth abnormality
25%
Abnormality of the cardiovascular system
16.7%
Abnormality of the integument
16.7%
Abnormality of the ear
8.3%
Abnormality of the endocrine system
8.3%
Neoplasm
8.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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