Sphingosine-1-Phosphate Receptor 2

Alternative Names

  • S1PR2
  • Endothelial Differentiation Gene 5
  • EDG5
  • S1P Receptor 2
  • S1P2
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OMIM Number

605111

NCBI Gene ID

9294

Uniprot ID

O95136

Length

9,899 bases

No. of Exons

2

Protein Name

Sphingosine 1-phosphate receptor 2

Molecular Mass

38867 Da

Amino Acid Count

353

Genomic Location

chr19:10,221,433-10,231,331

Gene Map Locus
19p13.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004230.4:c.985C>TUnited Arab EmiratesNC_000019.10:g.10223921G>AUncertain SignificanceUncertain SignificanceDeafness, Autosomal Recessive 68NG_046802.1:g.12887C>T; NM_004230.4:c.985C>T; NP_004221.3:p.Arg329Cys7653780161301661
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