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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCC2 Gene

protein-coding   GIFtS: 65
GCID: GC10P101532

ATP-binding cassette, sub-family C (CFTR/MRP), member 2

(Previous name: canalicular multispecific organic anion transporter 1 )
(Previous symbol: CMOAT)
 Explore 82 diseases affiliated with
ABCC2 via our new
 Human Malady Compendium 
Biological research products
for ABCC2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 21 2     Canalicular Multidrug Resistance Protein2 3
CMOAT1 2 3 5     Multidrug Resistance-Associated Protein 22 3
MRP21 2 3     ATP-Binding Cassette Sub-Family C Member 22 3
DJS1 2     ABC302
CMRP3     CMOAT13
Canalicular Multispecific Organic Anion Transporter 11 2     CMRP3

External Ids:    HGNC: 531   Entrez Gene: 12442   Ensembl: ENSG000000238397   OMIM: 6011075   UniProtKB: Q928873   

Export aliases for ABCC2 gene to outside databases

Previous GC identifers: GC10P100435 GC10P100776 GC10P101673 GC10P101207 GC10P095169


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABCC2:
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)

UniProtKB/Swiss-Prot: MRP2_HUMAN, Q92887
Function: Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter

Gene Wiki entry for ABCC2 (Multidrug resistance-associated protein 2)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCC2 gene promoter:
         HFH-3   Sox5   GATA-3   FOXD3   GATA-2   FOXL1   FOXI1   FOXC1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24

ABCC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P101532:  view genomic region     (about GC identifiers)

Start:
101,542,463 bp from pter      End:
101,611,949 bp from pter
Size:
69,487 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MRP2_HUMAN, Q92887 (See protein sequence)
Recommended Name: Canalicular multispecific organic anion transporter 1  
Size: 1545 amino acids; 174207 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: B2RMT8 Q14022 Q5T2B1 Q92500 Q92798 Q99663 Q9UMS2

Explore the universe of human proteins at neXtProt for ABCC2: NX_Q92887

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92887

  • ABCC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000383.1  
    ENSEMBL proteins: 
     ENSP00000359478   ENSP00000359463  
    Reactome Protein details: Q92887
    Human Recombinant Protein Products: 
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    Uscn Proteins for ABCC2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016324apical plasma membrane ISS--
    GO:0046581intercellular canaliculus IEA--


    ABCC2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ABCC2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR003439 ABC_transporter-like
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR011527 ABC_transptrTM_dom_typ1

    Graphical View of Domain Structure for InterPro Entry Q92887

    ProtoNet protein and cluster: Q92887

    UniProtKB/Swiss-Prot: MRP2_HUMAN, Q92887
    Similarity: Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily
    Similarity: Contains 2 ABC transmembrane type-1 domains
    Similarity: Contains 2 ABC transporter domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MRP2_HUMAN, Q92887
    Function: Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter

         Genatlas biochemistry entry for ABCC2:
    ATP binding cassette superfamily,subfamily C (CFTR/MRP),member 2,mainly expressed in canilicular membranes of
    hepatocytes,also present in other apical domains of prolonged cells,such as the epithelial cells of proximal tubule of
    kidney

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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0008514organic anion transmembrane transporter activity TAS7559771
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IEA--


    ABCC2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Abcc2tm1Ahs for ABCC2
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abcc2):
     hematopoietic system  homeostasis/metabolism  liver/biliary system  renal/urinary system 

    ABCC2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Irinotecan Pathway, Pharmacokinetics
    Irinotecan Pathway, Pharmacokinetics1.00
    Mycophenolic acid Pathway, Pharmacokinetics0.50
    Irinotecan Pathway0.73
    Taxane Pathway, Pharmacokinetics0.30
    Irinotecan Pathway, Pharmacodynamics0.50
    2Codeine and morphine metabolism
    Codeine and morphine metabolism1.00
    Tramadol Pharmacokinetics0.36
    Codeine and Morphine Pathway, Pharmacokinetics0.89
    3Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics1.00
    Doxorubicin Pathway (Cancer Cell), Pharmacodynamics0.43
    4Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
    Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics1.00
    Statin Pathway - Generalized, Pharmacokinetics0.70
    5ABC-family proteins mediated transport
    ABC-family proteins mediated transport1.00
    ABC transporters0.70

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ABCC2
        Hepatic ABC Transporters

    1 Cell Signaling Technology (CST) Pathway for ABCC2
        Glucose / Energy Metabolism

    4 BioSystems Pathways for ABCC2 
        Codeine and morphine metabolism
    Irinotecan Pathway
    Drug Induction of Bile Acid Pathway
    Nuclear receptors in lipid metabolism and toxicity

    2        Reactome Pathways for ABCC2
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules

    5/19 PharmGKB Pathways for ABCC2 (see all 19)
        Antigout Preparations Pathway, Pharmacodynamics
    Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
    Carbamazepine Pathway, Pharmacokinetics
    Codeine and Morphine Pathway, Pharmacokinetics
    Doxorubicin Pathway (Cancer Cell), Pharmacodynamics

    2         Kegg Pathways  (Kegg details for ABCC2):
        ABC transporters
    Bile secretion


    ABCC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/13 Interacting proteins for ABCC2 (Q928871, 3 ENSP000003594784) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RDXP352413, ENSP000003428304I2D: score=2 STRING: ENSP00000342830
    SLC9A3R1O147453, ENSP000002626134I2D: score=2 STRING: ENSP00000262613
    PDZK1Q5T2W13, ENSP000003421434I2D: score=2 STRING: ENSP00000342143
    CANXP278243, ENSP000002474614I2D: score=1 STRING: ENSP00000247461
    PDZD3Q86UT53, ENSP000003271074I2D: score=1 STRING: ENSP00000327107
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS7559771
    GO:0015711organic anion transport TAS7559771
    GO:0055085transmembrane transport TAS--


    ABCC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for ABCC2

    Browse Tocris compounds for ABCC2

    2 HMDB Compounds for ABCC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Bilirubin(4Z,15Z)-Bilirubin IXa (see all 17)635-65-417517076
    Pravastatin3beta-Hydroxycompactin (see all 7)81093-37-0--

    10/60 DrugBank Compounds for ABCC2 (see all 60)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    SulfinpyrazoneDiphenylpyrazone (see all 6)57-96-5targetinhibitor11834888 17229912 10727523 11108662 10917554 11500505
    transportersubstrate inhibitor11834888 17229912 10727523 11108662 10917554 11500505 11834888 10917554
    ProbenecidProbenecid Acid (see all 2)57-66-9transportersubstrate inhibitor15618649 12608533 14511674 10727523 11880368 12538836 19319690
    CyclosporineCiclosporin (see all 3)59865-13-3transporterinhibitor10570049 15618649 12134946 14511674 10421658
    Glutathione5-L-Glutamyl-L-cysteinylglycine (see all 5)70-18-8transportersubstrate inhibitor10024515 10692506 10648470 10491184 1430236
    MethotrexateAmethopterin (see all 12)59-05-2transportersubstrate inhibitor9270020 12608533 10727523 11465411 10363967
    PhenobarbitalFenobarbital (see all 7)50-06-6transporterinducer11861969 11841808 11323161 9571149 11706036
    Vinblastine-- 865-21-4transportersubstrate inhibitor inducer12134946 15616150 11323161 17045309 2172249
    IndomethacinIMN (see all 9)53-86-1transportersubstrate inhibitor19541926 10870987 16460798 19319690
    PravastatinPravastatin Sodium (see all 4)81093-37-0transportersubstrate inhibitor11748225 15616150 9321514 15901800
    SaquinavirSaquinavir Mesylate (see all 2)127779-20-8transportersubstrate15504753 12384350 12702717 12441801

    10/146 Novoseek chemical compound relationships for ABCC2 gene (see all 146)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mk 571 90.7 12 17855498 (1), 18405608 (1), 18718123 (1), 19201990 (1) (see all 10)
    oatp 86.7 15 17724432 (3), 20501720 (1), 19620935 (1), 18838068 (1) (see all 6)
    gf 120918 85.6 6 19491037 (1), 18515333 (1), 16244858 (1)
    estradiol-17beta-glucuronide 83.7 10 18180270 (2), 11748225 (1), 18761402 (1), 20071452 (1) (see all 5)
    probenecid 79.5 32 15849751 (5), 15618649 (2), 15904671 (1), 18267365 (1) (see all 14)
    androstane 79 10 11706036 (2), 15382119 (1), 20048746 (1), 19661216 (1) (see all 7)
    psc-833 78.8 6 16356829 (1), 17543436 (1), 18195111 (1), 18515333 (1)
    bilirubin monoglucuronide 78.5 7 11897625 (1), 19566819 (1), 9355767 (1), 19214140 (1) (see all 5)
    s-(2,4-dinitrophenyl)glutathione 78.1 2 9794924 (1), 9525973 (1)
    sulfinpyrazone 74.4 9 18180270 (2), 10917554 (1), 14569069 (1), 11500505 (1)

    5 PharmGKB related drug/compound annotations for ABCC2 gene
    Drug/compound PharmGKB Annotation
    antiepilepticsCA  
    carbamazepineCA  
    doxorubicinCA  
    talinololCA  
    tenofovirCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ABCC2 / MRP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ABCC2 gene: 
    NM_000392.3  

    Unigene Cluster for ABCC2:

    ATP-binding cassette, sub-family C (CFTR/MRP), member 2
    Hs.368243  [show with all ESTs]
    Unigene Representative Sequence: U49248
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370449(uc001kqf.2) ENST00000370434 ENST00000496621

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    Additional cDNA sequence: 

    BC136419.1 U49248.1 U63970.1 X96395.2 

    8 DOTS entries:

    DT.216029  DT.99999029  DT.121300501  DT.121300494  DT.216028  DT.100731911  DT.121300498  DT.92046395 

    24/76 AceView cDNA sequences (see all 76):

    AV656541 BF589901 BM765259 AA699522 CA429833 BQ220800 AV660932 BX643341 
    AA706096 AI566147 U63970 CB155960 H47978 BP359602 AV656926 BM741963 
    AA931070 BX116034 AV660925 AA989403 CD518414 AV652973 BM804774 BX495933 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACCTACTAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ABCC2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature brain microvascular endothelial cells (Derivation of blood-...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABCC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCC2

    SOURCE GeneReport for Unigene cluster: Hs.368243

    UniProtKB/Swiss-Prot: MRP2_HUMAN, Q92887
    Tissue specificity: Found on the apical membrane of polarized cells in liver, kidney and intestine. The highest
    expression is found in liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including ABCC2: 
              Nephrotoxicity in human mouse rat
              Drug Transporters in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCC2 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcc21 , 5 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 less1, 5 80.91(n)1
    77.76(a)1
      19 (36.67 cM)5
    127801  NM_013806.21  NP_038834.21 
     437821925 
    chicken
    (Gallus gallus)
    Aves ABCC21 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 less 65.6(n)
    63.91(a)
      423828  XM_421698.3  XP_421698.3 
    lizard
    (Anolis carolinensis)
    Reptilia ABCC26
    --
    63(a)
    1 ↔ 1
    3(38273068-38308779)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660722 similar to multidrug resistance protein 2 73.77(n)   393561  BC056740.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sur3 heart development sulfonylurea receptor 46(a)
    (best of 2)
      31B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea mrp-23 ATP-binding transport family 41(a)
    (best of 3)
      X(599137-607953)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MRP11 ABC transporter C family member 1 50.01(n)
    42.47(a)
      839920  NM_001036039.1  NP_001031116.1 
    rice
    (Oryza sativa)
    Liliopsida AK120122.12   -- 73.92(n)    AK120122.1 


    ENSEMBL Gene Tree for ABCC2 (if available)
    TreeFam Gene Tree for ABCC2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCC2 gene
    ABCC42  ABCC122  ABCC12  ABCC102  CFTR2  ABCC82  ABCC52  ABCC62  
    ABCC32  ABCC112  ABCC92  
    18/21 SIMAP similar genes for ABCC2 using alignment to 2 protein entries:     MRP2_HUMAN (see all proteins) (see all similar genes):
    TAP1    DKFZp434I2115    DKFZp781G125    NG-TRA    ABCB4    MRP3
    CFTR    ABCC3    MOAT-B    ABCC1    ABCC4    ABCC6
    MRP    ABCC11    ABCC12    ABCC9    ABCC10    ara

    ABCC2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ABCC2
    PGOHUM00000258120


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1350 NCBI SNPs in ABCC2 are shown (see all 1350    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561995351,2
    C,F,pathogenic101578577(+) AGCAGC/G/TGGATC 3 R G W mis15MN WA EA CSA 841
    rs725582001,2
    Cpathogenic101595882(+) GAGGCA/GTCTGG 2 H R mis10--------
    rs725582011,2
    Cpathogenic101595950(+) CAGTTA/TTCCGT 2 I F mis10--------
    rs725582021,2
    Cpathogenic101605538(+) CCCCCA/GGGTGA 2 Q R mis10--------
    rs1872301511,2
    --101540642(+) AAAGGC/TGCACC 1 -- us2k10--------
    rs1488374201,2
    --101540647(+) TGCACA/CCTGCC 1 -- us2k10--------
    rs1469696531,2
    --101540674(+) AGTTCC/TACAGC 1 -- us2k10--------
    rs1165401251,2
    --101540715(+) ATGGAA/GAATGA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs782675621,2
    --101540828(+) TTGTTG/TTTTTT 1 -- us2k10--------
    rs1378977501,2
    --101540933(+) AGTTGC/TCATAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABCC2 (101542463 - 101611949 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ABCC2: --
    Human Gene Mutation Database (HGMD): ABCC2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC2
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ABCC2 for disorders           About GeneDecksing

    OMIM gene information: 601107   
    OMIM disorders: 237500  
    UniProtKB/Swiss-Prot: MRP2_HUMAN, Q92887
  • Defects in ABCC2 are the cause of Dubin-Johnson syndrome (DJS) [MIM:237500]. DJS is an 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

    20/82 diseases for ABCC2 (see all 82):    About MalaCards
    dubin-johnson syndrome    factor vii deficiency    dysembryoplastic neuroepithelial tumor    rotor syndrome
    central nervous system lymphoma    dna topoisomerase i    intrahepatic cholestasis    sclerosing cholangitis
    primary sclerosing cholangitis    cholestasis    non-hodgkin lymphoma    intrahepatic cholestasis of pregnancy
    cholangitis    spina bifida    primary biliary cirrhosis    intractable epilepsy
    malignant mesothelioma    hepatitis c    obstructive jaundice    biliary atresia

    2 diseases from the University of Copenhagen DISEASES database for ABCC2:
    Bilirubin metabolic disorder     Cholestasis

    10/57 Novoseek disease relationships for ABCC2 gene (see all 57)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dubin-johnson syndrome 95.3 83 11477083 (3), 10464142 (3), 19881259 (2), 15777714 (2) (see all 42)
    hyperbilirubinemia 74.5 41 15965653 (4), 19881259 (2), 15870973 (2), 12884082 (2) (see all 20)
    cholestasis 71.3 31 18700187 (3), 2035335 (3), 11481619 (2), 15057744 (2) (see all 17)
    cholestasis intrahepatic 63.8 3 17997497 (2), 19882051 (1)
    rotor syndrome 59.4 1 7483689 (1)
    breast cancer 56.9 95 18845662 (2), 20071452 (2), 20441926 (2), 15180326 (1) (see all 56)
    ovarian carcinoma 46.6 22 10767994 (5), 10537344 (4), 15262134 (3), 12216079 (2) (see all 9)
    colon adenocarcinoma 42.9 2 15896333 (1), 17430634 (1)
    cancer 40 46 10427140 (3), 9398612 (3), 8797578 (1), 9270026 (1) (see all 32)
    liver diseases 36.5 22 17725603 (4), 18926681 (2), 9185779 (1), 10319416 (1) (see all 8)

    Genetic Association Database (GAD): ABCC2
    Human Genome Epidemiology (HuGE) Navigator: ABCC2 (89 documents)

    Export disorders for ABCC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ABCC2 gene, integrated from 9 sources (see all 785):
    (articles sorted by number of sources associating them with ABCC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of Trp1254 in the multispecific organic anion transporter, multidrug resistance protein 2 (MRP2) (ABCC2), alters substrate specificity and results in loss of methotrexate transport activity. (PubMed id 11500505)1, 2, 7, 9 Ito K....Cole S.P.C. (2001)
    2. A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation. (PubMed id 8797578)1, 2, 3, 9 Taniguchi K.... Kuwano M. (1996)
    3. Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin- Johnson syndrome. (PubMed id 11477083)1, 2, 9 Mor-Cohen R....Seligsohn U. (2001)
    4. Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. (PubMed id 10464142)1, 2, 9 Tsujii H.... Keppler D. (1999)
    5. Evidence for two interacting ligand binding sites in human multidrug resistance protein 2 (ATP binding cassette C2). (PubMed id 12702717)1, 7, 9 Zelcer N....Borst P. (2003)
    6. Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin- Johnson syndrome. (PubMed id 11093739)1, 2, 9 Keitel V.... Keppler D. (2000)
    7. cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats. (PubMed id 8662992)1, 2, 9 Buechler M....Keppler D. (1996)
    8. Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo. (PubMed id 16041239)1, 4, 9 Colombo S....Telenti A. (2005)
    9. High-dose methotrexate in pediatric acute lymphoblastic leukemia: impact of ABCC2 polymorphisms on plasma concentrations. (PubMed id 17112803)1, 7, 9 Rau T....Langer T. (2006)
    10. High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1). (PubMed id 15226675)1, 4, 9 Niemi M....Kivisto K.T. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1244 HGNC: 53 AceView: ABCC2 Ensembl:ENSG00000023839 euGenes: HUgn1244
    ECgene: ABCC2 Kegg: 1244 H-InvDB: ABCC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABCC2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC2
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q92887

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCC2 gene:
    Search GeneIP for patents involving ABCC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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