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

Gene ID: 1244, updated on 5-Jun-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)

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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
    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)