UniProt ID: Q9I8K8 |
FUNCTION: Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P) (PubMed:10910360). S1P receptor is critical for cell migration and epithelial integrity during vertebrate embryogenesis (PubMed:10910360). Receptor for the chemokine-like protein FAM19A5 (By similarity). Mediates the inhibitory effect of FAM19A5 on vascular smooth muscle cell proliferation and migration (By similarity). {ECO:0000250|UniProtKB:P47752, ECO:0000269|PubMed:10910360}. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. DEVELOPMENTAL STAGE: The expression pattern is complex and dynamic. Maternal expression is found in a diffuse pattern throughout the blastoderm, and this pattern persists through the onset of gastrulation. More pronounced expression can be seen at tailbud stage in the anterior portion of the embryo and along the embryonic axis, and at the 16-somite stage in the midbrain/hindbrain boundary and the tip of the tail where blisters later develop in receptor mutants. At the 18-somite stage, expression appears just lateral to the midline, and as the myocardial precursors migrate to the midline, their location overlaps with this domain of receptor expression. DISEASE: Note=Defects in s1pr2 are a cause of heart development abnormality named miles apart (mil). In all vertebrates, the myocardial progenitors involute early during gastrulation and come to occupy bilateral positions in the anterior lateral plate mesoderm (LPM). During somitogenesis, these cells undergo a second phase of migration toward the midline and fuse to form the definitive heart tube. Defects in S1PR2 disrupt this process, leading to the formation of two laterally positioned hearts (cardia bifida). The mil phenotype for which two recessive alleles exist, mil(m93) and mil(te273) are fully penetrant. Mil(m93)/mil(te273) transheterozygous embryos display the same phenotype as homozygotes for either single mutant allele. In addition to cardia bifida, mil mutants display epithelial tail blisters, indicative of a defect in epithelial integrity. {ECO:0000269|PubMed:10910360}. SIMILARITY: Belongs to the G-protein coupled receptor 1 family. {ECO:0000255|PROSITE-ProRule:PRU00521}. |
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