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GENE - TERM ANNOTATION REPORT

RGD ID: 68334
Species: Rattus norvegicus
RGD Object: Gene
Symbol: S1pr2
Name: sphingosine-1-phosphate receptor 2
Acc ID: DOID:0110519
Term: autosomal recessive nonsyndromic deafness 68
Definition: An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26805784 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
S1pr2 ISOS1PR2 (Homo sapiens)7240710OMIM  
S1pr2 ISOS1PR2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
S1pr2 ISOS1PR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Deafness, autosomal recessive 68PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 PMID:28492532
S1pr2 ISSS1pr2 (Mus musculus)13592920MouseDOOMIM:610419 
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