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GPR39

Synonyms
-
External resources
Summary
This gene is a member of the ghrelin receptor family and encodes a rhodopsin-type G-protein-coupled receptor (GPCR). The encoded protein is involved in zinc-dependent signaling in epithelial tissue in intestines, prostate and salivary glands. The protein may also be involved in the pathophysiology of depression.

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
50
Likely pathogenic
0
VUS
758
Likely benign
72
Benign
0

Patient Phenotypes

Proportions of phenotypes among 50 patients carrying pathogenic or likely pathogenic variants on GPR39 gene are displayed below. The following symptoms were found in patients with a variant in GPR39. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28%
Abnormality of the musculoskeletal system
26%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
16%
Growth abnormality
12%
Abnormality of head or neck
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
8%
Abnormality of blood and blood forming tissues
6%
Abnormality of metabolism homeostasis
6%
Abnormality of the eye
6%
Abnormality of limbs
4%
Abnormality of prenatal development or birth
4%
Abnormality of the digestive system
4%
Abnormality of the integument
4%
Abnormal cellular phenotype
2%
Abnormality of the endocrine system
2%
Abnormality of the respiratory system
2%
Constitutional symptom
2%
Neoplasm
2%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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