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MGP000606

UniProt Annotations

Entry Information
Gene NameATP-binding cassette, sub-family C (CFTR/MRP), member 2
Protein EntryMRP2_HUMAN
UniProt IDQ92887
SpeciesHuman
Comments
Comment typeDescription
DiseaseDubin-Johnson syndrome (DJS) [MIM:237500]: Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. {ECO:0000269|PubMed:10053008, ECO:0000269|PubMed:10464142, ECO:0000269|PubMed:11266082, ECO:0000269|PubMed:11477083, ECO:0000269|PubMed:9425227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter.
InteractionP19838:NFKB1; NbExp=3; IntAct=EBI-3916193, EBI-300010;
SimilarityBelongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO:0000305}.
SimilarityContains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule:PRU00441}.
SimilarityContains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular LocationApical cell membrane {ECO:0000269|PubMed:11093739}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:11093739}.
Tissue SpecificityExpressed by polarized cells in liver, kidney and intestine. The highest expression is found in liver.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q92887";
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