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S1PR2

Synonyms
AGR16, DFNB68, EDG-5, EDG5, Gpcr13, H218, LPB2, S1P2
External resources
Summary
This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,338
Likely benign
110
Benign
509

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on S1PR2 gene.

Phenotype class
Patients in 3billion (%)

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