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GENE - TERM ANNOTATION REPORT

RGD ID: 731435
Species: Mus musculus
RGD Object: Gene
Symbol: Slc5a2
Name: solute carrier family 5 (sodium/glucose cotransporter), member 2
Acc ID: DOID:9432
Term: renal glycosuria
Definition: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
Definition Source(s): MESH:D006030
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)
Slc5a2 ISOSLC5A2 (Homo sapiens)737731RGDDNA:nonsense mutation:cds:p.W440X (human) 
Slc5a2 ISOSLC5A2 (Homo sapiens)1599049RGDDNA:frameshift mutation, missense mutation:cds:p.Q167fsX186, p.N654S (human) 
Slc5a2 ISOSLC5A2 (Homo sapiens)7240710OMIM  
Slc5a2 ISOSLC5A2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:14614622
Slc5a2 ISOSLC5A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related conditionPMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:21165652 PMID:23265383 PMID:25741868 PMID:26376857 PMID:28492532
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