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S1PR5

Synonyms
EDG8, Edg-8, S1P5, SPPR-1, SPPR-2
External resources
Summary
The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.

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
1
Likely pathogenic
17
VUS
1,439
Likely benign
303
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on S1PR5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of the eye
27.8%
Abnormality of limbs
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
16.7%
Abnormality of the ear
11.1%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormality of the cardiovascular system
5.6%
Abnormality of the digestive system
5.6%
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 endocrine system
0%
Abnormality of the genitourinary 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%
Neoplasm
0%

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