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GENE - TERM ANNOTATION REPORT

RGD ID: 12302447
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SLC4A2
Name: solute carrier family 4 member 2
Acc ID: DOID:0110861
Term: autosomal recessive polycystic kidney disease
Definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease "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)
SLC4A2 ISOSlc4a2 (Rattus norvegicus)9068941RGDmRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membranePMID:18988797 REF_RGD_ID:2307071
SLC4A2 ISOSLC4A2 (Homo sapiens)9068941CTDCTD Direct Evidence: marker/mechanismPMID:18988797
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