ABCC2

ATP binding cassette subfamily C member 2

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]

Known Variants935 total

rsidPosition (GRCh37)AllelesClassClinVar
rs280440210:101,541,583A/Gregulatory region variant—
rs203763700010:101,542,513G/A—uncertain significance
rs76593548110:101,542,559A/G—uncertain significance
rs20068559910:101,542,562T/C—uncertain significance
rs71762010:101,542,578C/Tregulatory region variantbenign
rs1721615610:101,542,579G/A—benign
rs130953443010:101,542,604G/A—uncertain significance
rs76981355410:101,542,605C/T—likely benign
rs78031717110:101,542,607G/A—likely benign
rs37514738310:101,542,624C/T—uncertain significance
rs125911230310:101,542,628T/A—likely benign
rs140788940410:101,542,636T/C—likely pathogenic
rs249280732110:101,542,641A/T—likely benign
rs36832170310:101,542,647A/G—conflicting classifications of pathogenicity
rs249280735210:101,542,652T/C—likely benign
rs1722261010:101,544,357G/A—conflicting classifications of pathogenicity
rs145527834110:101,544,359C/T—likely benign
rs140044850810:101,544,367T/C—likely benign
rs14127810610:101,544,387C/T—uncertain significance
rs77261848110:101,544,388G/A—conflicting classifications of pathogenicity
rs77488768510:101,544,397C/T—likely benign
rs249281266410:101,544,398C/T—likely benign
rs75268896910:101,544,400G/C—likely benign
rs56241345110:101,544,419A/T—uncertain significance
rs103513748210:101,544,421T/A—likely benign
rs37624152210:101,544,430G/A—conflicting classifications of pathogenicity
rs88604661710:101,544,439C/T—uncertain significance
rs75513155910:101,544,440T/G—uncertain significance
rs92734410:101,544,447A/Tmissense variantbenign
rs77830048110:101,544,467T/C—uncertain significance
rs20059585110:101,544,481C/T—conflicting classifications of pathogenicity
rs155484588810:101,544,487T/A—pathogenic
rs1722259610:101,544,490A/G—likely benign
rs74872715210:101,544,493C/G—likely benign
rs14534614410:101,544,500A/C—uncertain significance
rs76146852110:101,544,501A/G—uncertain significance
rs77180287010:101,544,508C/T—likely benign
rs4128689010:101,544,520A/G—likely benign
rs203767732710:101,544,529T/C—likely benign
rs203767738410:101,544,532T/G—likely benign
rs37580518910:101,544,534A/C—conflicting classifications of pathogenicity
rs14542714010:101,544,537A/C—uncertain significance
rs116153028510:101,544,539G/A—pathogenic
rs203767771310:101,544,550A/G—likely benign
rs133065893010:101,544,553A/C—likely benign
rs75291212910:101,544,555T/A—likely benign
rs3568321410:101,547,276G/Adownstream gene variant—
rs275610810:101,551,902C/T—benign
rs203782180310:101,551,971T/C—likely benign
rs249283612410:101,551,980T/C—likely benign
rs19970051010:101,551,991G/A—uncertain significance
rs249283617610:101,551,992T/G—uncertain significance
rs77082443510:101,551,996C/T—conflicting classifications of pathogenicity
rs14879184710:101,551,997G/A—uncertain significance
rs76536190110:101,551,998T/C—uncertain significance
rs213296603910:101,552,008T/C—likely benign
rs76439091110:101,552,015C/T—conflicting classifications of pathogenicity
rs75084458310:101,552,036C/G—uncertain significance
rs142913660410:101,552,038T/A—likely benign
rs14244327610:101,552,041A/G—conflicting classifications of pathogenicity
rs156466991510:101,552,046C/A—uncertain significance
rs74667571110:101,552,065C/T—likely benign
rs52958858410:101,552,081C/T—pathogenic
rs54771686110:101,552,082G/C—uncertain significance
rs55990806410:101,552,089C/A—conflicting classifications of pathogenicity
rs101510483210:101,552,104C/T—likely benign
rs75075553210:101,552,113A/G—conflicting classifications of pathogenicity
rs53333489310:101,552,117G/A—likely pathogenic
rs75440647410:101,552,125T/C—likely benign
rs75783529810:101,552,130C/A—likely benign
rs249283719910:101,552,132C/T—likely benign
rs280440010:101,553,259C/T—benign
rs20195191910:101,553,288T/A—likely benign
rs55365757110:101,553,295A/C—likely benign
rs37004728710:101,553,305C/T—uncertain significance
rs249284147310:101,553,306A/G—likely pathogenic
rs20075514810:101,553,312T/C—uncertain significance
rs15130454310:101,553,313G/A—conflicting classifications of pathogenicity
rs249284156910:101,553,316T/G—likely benign
rs132907445010:101,553,331C/T—likely benign
rs75453991610:101,553,345G/T—uncertain significance
rs74919613110:101,553,361C/T—likely benign
rs156467075510:101,553,374C/T—uncertain significance
rs77876539010:101,553,376A/G—likely benign
rs249284214810:101,553,377T/C—uncertain significance
rs74880171110:101,553,381G/A—pathogenic
rs249284228710:101,553,389T/C—uncertain significance
rs77210758710:101,553,390C/T—uncertain significance
rs14535047410:101,553,391G/T—conflicting classifications of pathogenicity
rs249284237410:101,553,404A/G—uncertain significance
rs75986031610:101,553,412A/G—likely benign
rs14645293710:101,553,428C/T—uncertain significance
rs37111379310:101,553,429G/A—uncertain significance
rs148597755710:101,553,433A/G—likely benign
rs174794907410:101,553,436C/A—likely benign
rs249284270110:101,553,438T/C—uncertain significance
rs249284271810:101,553,440C/T—pathogenic
rs249284279510:101,553,451A/G—likely benign
rs249284280210:101,553,454A/G—likely benign
rs249284285710:101,553,461G/T—likely benign

Showing 100 of 935 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.