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    ABCC2 ATP binding cassette subfamily C member 2 [ Homo sapiens (human) ]

    Gene ID: 1244, updated on 7-Aug-2022

    Summary

    Official Symbol
    ABCC2provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 2provided by HGNC
    Primary source
    HGNC:HGNC:53
    See related
    Ensembl:ENSG00000023839 MIM:601107; AllianceGenome:HGNC:53
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DJS; MRP2; cMRP; ABC30; CMOAT
    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]
    Expression
    Biased expression in liver (RPKM 24.9), small intestine (RPKM 18.6) and 3 other tissues See more
    Orthologs
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    Genomic context

    See ABCC2 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99782640..99852594)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100665562..100736331)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101542397..101612351)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ectonucleoside triphosphate diphosphohydrolase 7 Neighboring gene EBAG9 pseudogene 1 Neighboring gene cytochrome c oxidase assembly homolog COX15 Neighboring gene cutC copper transporter Neighboring gene ABCC2 intron CAGE-defined mid-level expression enhancer Neighboring gene Nanog homeobox pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 8166 Neighboring gene dynamin binding protein Neighboring gene DNMBP antisense RNA 1 Neighboring gene uncharacterized LOC124902490

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dubin-Johnson syndrome
    MedGen: C0022350 OMIM: 237500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1010

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bilirubin transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukotriene transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transepithelial transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in xenobiotic export from cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in xenobiotic transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenobiotic transport across blood-brain barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface HDA PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intercellular canaliculus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ATP-binding cassette sub-family C member 2
    Names
    ATP-binding cassette, sub-family C (CFTR/MRP), member 2
    canalicular multidrug resistance protein
    canalicular multispecific organic anion transporter 1
    multidrug resistance-associated protein 2
    NP_000383.2
    XP_006717693.1
    XP_006717694.1
    XP_011537593.1
    XP_016871164.1
    XP_047280554.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011798.2 RefSeqGene

      Range
      5043..74997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1208

    mRNA and Protein(s)

    1. NM_000392.5NP_000383.2  ATP-binding cassette sub-family C member 2

      Status: REVIEWED

      Source sequence(s)
      AL133353, AL392107, U49248, U63970
      Consensus CDS
      CCDS7484.1
      UniProtKB/Swiss-Prot
      Q9UMS2
      Related
      ENSP00000497274.1, ENST00000647814.1
      Conserved Domains (1) summary
      cl26602
      Location:81537
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      99782640..99852594
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424598.1XP_047280554.1  ATP-binding cassette sub-family C member 2 isoform X2

    2. XM_011539291.4XP_011537593.1  ATP-binding cassette sub-family C member 2 isoform X3

      Conserved Domains (1) summary
      TIGR00957
      Location:8914
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    3. XM_006717631.5XP_006717694.1  ATP-binding cassette sub-family C member 2 isoform X4

      Conserved Domains (3) summary
      cd03250
      Location:637838
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      COG1132
      Location:310857
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      cl00549
      Location:326593
      ABC_membrane; ABC transporter transmembrane region
    4. XM_017015675.3XP_016871164.1  ATP-binding cassette sub-family C member 2 isoform X5

    5. XM_006717630.4XP_006717693.1  ATP-binding cassette sub-family C member 2 isoform X1

      Conserved Domains (5) summary
      cd03244
      Location:10661286
      ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein
      cd03250
      Location:405606
      ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C
      TIGR01271
      Location:781290
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:7511017
      ABC_membrane; ABC transporter transmembrane region
      cl00549
      Location:94361
      ABC_membrane; ABC transporter transmembrane region

    RNA

    1. XR_945604.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      100665562..100736331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)