ABCC2 Gene (Protein Coding)

ATP Binding Cassette Subfamily C Member 2

GC10P099782
GIFtS:
49
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 resistan... See more...

Aliases for ABCC2 Gene

Aliases for ABCC2 Gene

  • ATP Binding Cassette Subfamily C Member 2 2 3 5
  • Canalicular Multispecific Organic Anion Transporter 1 2 3 4
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 2 2 3
  • Multidrug Resistance-Associated Protein 2 3 4
  • Canalicular Multidrug Resistance Protein 3 4
  • CMOAT 3 4
  • CMRP 3 4
  • MRP2 3 4
  • ATP-Binding Cassette Sub-Family C Member 2 4
  • EC 7.6.2.2 4
  • CMOAT1 4
  • ABC30 3
  • DJS 3

External Ids for ABCC2 Gene

Previous HGNC Symbols for ABCC2 Gene

  • CMOAT

Previous GeneCards Identifiers for ABCC2 Gene

  • GC10P100435
  • GC10P100776
  • GC10P101673
  • GC10P101207
  • GC10P101532
  • GC10P095169

Summaries for ABCC2 Gene

Entrez Gene Summary for ABCC2 Gene

  • 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]

GeneCards Summary for ABCC2 Gene

ABCC2 (ATP Binding Cassette Subfamily C Member 2) is a Protein Coding gene. Diseases associated with ABCC2 include Dubin-Johnson Syndrome and Bilirubin Metabolic Disorder. Among its related pathways are Acetaminophen Pathway (therapeutic doses), Pharmacokinetics and Phenytoin Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include transporter activity and protein domain specific binding. An important paralog of this gene is ABCC1.

UniProtKB/Swiss-Prot Summary for ABCC2 Gene

  • Mediates hepatobiliary excretion of numerous organic anions and conjugated organic anions such as methotrexate, 17beta-estradiol 17-glucosiduronic acid and leukotriene C4 (PubMed:11500505). Also transports sulfated bile salt such as taurolithocholate sulfate (PubMed:16332456). May function as a cellular cisplatin transporter.

Gene Wiki entry for ABCC2 Gene

Additional gene information for ABCC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCC2 Gene

Genomics for ABCC2 Gene

GeneHancer (GH) Regulatory Elements for ABCC2 Gene

Promoters and enhancers for ABCC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J099775 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 752.8 -1.6 -1628 11.1 SIN3A FOXA1 MLX RBPJ SMARCE1 POLR2A USF2 NR2F6 CREB1 MIXL1 ABCC2 EBAG9P1 ENSG00000224934 SEC31B CWF19L1 COX15 HSALNG0080070
GH10J099755 Promoter 0.3 EPDnew 761.9 -27.0 -26971 0.1 ABCC2 NANOGP6 piR-41838-003 HSALNG0080070 CUTC
GH10J099617 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.4 -162.7 -162664 5.6 ZNF785 SIN3A ZNF24 SP1 LCORL MLX RBPJ SMARCE1 POLR2A TCF7L2 SLC25A28 ENSG00000260475 TPM4P1 SPCS2P2 ENSG00000231188 CWF19L1 NKX2-3 CHUK CNNM1 CUTC
GH10J099845 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 11.2 +63.4 63394 1.1 ZBTB40 CTCF ZBTB6 MYC L3MBTL2 RAD21 CEBPG SP7 ZSCAN21 RELA DNMBP-AS1 NANOGP6 ABCC2 DNMBP EBAG9P1 piR-55657-037 piR-36393-050
GH10J099658 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.5 -121.6 -121614 6 ZNF24 ZBTB40 SP1 RBPJ SMARCE1 POLR2A ATF1 CREB1 NFYC L3MBTL2 SLC25A28 ENTPD7 ENSG00000229278 piR-61897 CWF19L1 CUTC CHUK EBAG9P1 CNNM1 ABCC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCC2 gene promoter:
  • FOXC1
  • FOXD3
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • GATA-2
  • GATA-3
  • HFH-3
  • Sox5

Genomic Locations for ABCC2 Gene

Genomic Locations for ABCC2 Gene
chr10:99,782,598-99,852,594
(GRCh38/hg38)
Size:
69,997 bases
Orientation:
Plus strand
chr10:101,542,463-101,611,949
(GRCh37/hg19)
Size:
69,487 bases
Orientation:
Plus strand

Genomic View for ABCC2 Gene

Genes around ABCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ABCC2 Gene

Proteins for ABCC2 Gene

Products:

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  • Protein details for ABCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92887-MRP2_HUMAN
    Recommended name:
    Canalicular multispecific organic anion transporter 1
    Protein Accession:
    Q92887
    Secondary Accessions:
    • B2RMT8
    • Q14022
    • Q5T2B1
    • Q92500
    • Q92798
    • Q99663
    • Q9UMS2

    Protein attributes for ABCC2 Gene

    Size:
    1545 amino acids
    Molecular mass:
    174207 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABCC2 Gene

Protein Expression for ABCC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ABCC2 Gene

  • Glycosylation at Asn7, Asn12, and Asn1011
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ABCC2

No data available for DME Specific Peptides for ABCC2 Gene

Domains & Families for ABCC2 Gene

Gene Families for ABCC2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCC2 Gene

GenScript: Design optimal peptide antigens:
  • Multidrug resistance-associated protein 2 (MRP2_HUMAN)
  • Canalicular multispecific organic anion transporter (Q9UN90_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92887

UniProtKB/Swiss-Prot:

MRP2_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
genes like me logo Genes that share domains with ABCC2: view

Function for ABCC2 Gene

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Molecular function for ABCC2 Gene

UniProtKB/Swiss-Prot Function:
Mediates hepatobiliary excretion of numerous organic anions and conjugated organic anions such as methotrexate, 17beta-estradiol 17-glucosiduronic acid and leukotriene C4 (PubMed:11500505). Also transports sulfated bile salt such as taurolithocholate sulfate (PubMed:16332456). May function as a cellular cisplatin transporter.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + taurolithocholate sulfate(in) = ADP + H(+) + phosphate + taurolithocholate sulfate(out); Xref=Rhea:RHEA:50084, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58301, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50085; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + xenobiotic(Side 1) = ADP + phosphate + xenobiotic(Side 2).; EC=7.6.2.2; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + leukotriene C4(in) = ADP + H(+) + leukotriene C4(out) + phosphate; Xref=Rhea:RHEA:38963, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57973, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38964; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol 17-O-(beta-D-glucuronate)(in) + ATP + H2O = 17beta-estradiol 17-O-(beta-D-glucuronate)(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:60128, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:82961, ChEBI:CHEBI:456216; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60129; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=8.2 uM for taurolithocholate sulfate {ECO:0000269 PubMed:16332456}; Vmax=1530 pmol/min/mg enzyme for taurolithocholate sulfate transport {ECO:0000269 PubMed:16332456};
GENATLAS Biochemistry:
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

Enzyme Numbers (IUBMB) for ABCC2 Gene

Phenotypes From GWAS Catalog for ABCC2 Gene

Gene Ontology (GO) - Molecular Function for ABCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17825285
GO:0005524 ATP binding IEA --
GO:0008514 organic anion transmembrane transporter activity IEA,TAS 7559771
GO:0008559 xenobiotic transmembrane transporting ATPase activity IEA --
GO:0015127 bilirubin transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with ABCC2: view
genes like me logo Genes that share phenotypes with ABCC2: view

Human Phenotype Ontology for ABCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCC2 Gene

MGI Knock Outs for ABCC2:
  • Abcc2 Abcc2<tm2b(KOMP)Wtsi>
  • Abcc2 Abcc2<tm1.1(ABCC2)Arte>
  • Abcc2 Abcc2<tm1Dgen>
  • Abcc2 Abcc2<tm1Ahs>

Animal Model Products

CRISPR Products

miRNA for ABCC2 Gene

miRTarBase miRNAs that target ABCC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCC2

No data available for Transcription Factor Targets and HOMER Transcription for ABCC2 Gene

Localization for ABCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC2 Gene

Apical cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCC2 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ABCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0009986 cell surface IDA 17825285
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCC2 Gene

Pathways & Interactions for ABCC2 Gene

genes like me logo Genes that share pathways with ABCC2: view

Interacting Proteins for ABCC2 Gene

Selected Interacting proteins: Q92887-MRP2_HUMAN for ABCC2 Gene via UniProtKB IID

GPS-Prot Interaction Network for ABCC2

SIGNOR curated interactions for ABCC2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ABCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IEA --
GO:0006979 response to oxidative stress IEA --
GO:0007565 female pregnancy IEA --
GO:0009408 response to heat IEA --
GO:0015694 mercury ion transport IEA --
genes like me logo Genes that share ontologies with ABCC2: view

Drugs & Compounds for ABCC2 Gene

Products:

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(169) Drugs for ABCC2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Transporter, inducer Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3240
Methotrexate Approved Pharma Transporter, substrate, inhibitor Folate antagonist,inhibits DFHR 1757
Pravastatin Approved Pharma Competitive, Inhibitor, Transporter, substrate 161
Ritonavir Approved, Investigational Pharma Transporter, substrate, inducer HIV protease inhibitor 941
Sulfinpyrazone Approved Pharma Target, Transporter, inhibitor, substrate, modulator 0

(49) Additional Compounds for ABCC2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3',4'-Dihydrodiol
O-Desmethylverapamil (D-702)

(4) ApexBio Compounds for ABCC2 Gene

Compound Action Cas Number
CP 100356 hydrochloride 142715-48-8
Fumitremorgin C 118974-02-0
KS 176 1253452-78-6
Vinblastine sulfate Anti-mitotic agent 143-67-9
genes like me logo Genes that share compounds with ABCC2: view

Transcripts for ABCC2 Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for ABCC2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(76) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCC2

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC2 Gene

No ASD Table

Relevant External Links for ABCC2 Gene

GeneLoc Exon Structure for
ABCC2
ECgene alternative splicing isoforms for
ABCC2

Expression for ABCC2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCC2 Gene

mRNA expression in normal human tissues for ABCC2 Gene
mRNA expression by BioGPS for ABCC2 GenemRNA expression by GTEx for ABCC2 Gene

mRNA differential expression in normal tissues according to GTEx for ABCC2 Gene

This gene is overexpressed in Liver (x33.3) and Kidney - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for ABCC2 Gene

This gene is overexpressed in Oral epithelium (25.5), Liver (17.0), and Plasma (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCC2 Gene



Protein tissue co-expression partners for ABCC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCC2 Gene:

ABCC2

SOURCE GeneReport for Unigene cluster for ABCC2 Gene:

Hs.368243

mRNA Expression by UniProt/SwissProt for ABCC2 Gene:

Q92887-MRP2_HUMAN
Tissue specificity: Expressed by polarized cells in liver, kidney and intestine. The highest expression is found in liver.

Evidence on tissue expression from TISSUES for ABCC2 Gene

  • Liver(4.8)
  • Intestine(3.1)
  • Kidney(3)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • eye
  • head
  • mouth
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • stomach
General:
  • skin
genes like me logo Genes that share expression patterns with ABCC2: view

Orthologs for ABCC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCC2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia ABCC2 32
  • 86.86 (n)
MRP2 33
  • 83 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ABCC2 33 32
  • 86.09 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Abcc2 32
  • 81.16 (n)
mouse
(Mus musculus)
 Mammalia Abcc2 17 33 32
  • 80.9 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ABCC2 33
  • 66 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ABCC2 33
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ABCC2 33 32
  • 65.47 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ABCC2 33
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia abcc2 32
  • 64.17 (n)
zebrafish
(Danio rerio)
 Actinopterygii abcc2 33 32
  • 60.73 (n)
 OneToOne
zgc66072 32
fruit fly
(Drosophila melanogaster)
 Insecta Sur 34
  • 46 (a)
MRP 33
  • 45 (a)
 ManyToMany
CG6214 34
  • 43 (a)
worm
(Caenorhabditis elegans)
 Secernentea mrp-2 34
  • 41 (a)
mrp-8 34
  • 40 (a)
mrp-3 33
  • 37 (a)
 ManyToMany
mrp-7 34
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YCF1 33
  • 37 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons MRP1 32
  • 50.33 (n)
wheat
(Triticum aestivum)
 Liliopsida Ta.9148 32
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 46 (a)
 ManyToMany
Species where no ortholog for ABCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ABCC2 Gene

ENSEMBL:
Gene Tree for ABCC2 (if available)
TreeFam:
Gene Tree for ABCC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCC2: view image

Paralogs for ABCC2 Gene

Paralogs for ABCC2 Gene

(20) SIMAP similar genes for ABCC2 Gene using alignment to 2 proteins:

  • MRP2_HUMAN
  • Q5TCZ5_HUMAN

Pseudogenes.org Pseudogenes for ABCC2 Gene

genes like me logo Genes that share paralogs with ABCC2: view

Variants for ABCC2 Gene

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Sequence variations from dbSNP and Humsavar for ABCC2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1054194575 uncertain-significance, Dubin-Johnson syndrome 99,831,976(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, splice_acceptor_variant
rs112339372 likely-benign, not specified, not provided 99,830,781(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs112758556 uncertain-significance, likely-benign, Dubin-Johnson syndrome, not specified, not provided 99,830,429(+) C/A/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs113646094 benign, likely-benign, uncertain-significance, not specified, Dubin-Johnson syndrome, not provided 99,804,255(+) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1137968 likely-benign, Dubin-Johnson syndrome 99,847,104(+) G/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ABCC2 Gene

Variant ID Type Subtype PubMed ID
dgv506n106 CNV deletion 24896259
esv3423829 CNV duplication 20981092
nsv1046030 CNV loss 25217958
nsv1137953 CNV deletion 24896259
nsv825539 CNV loss 20364138
nsv825540 CNV gain 20364138
nsv831960 CNV gain 17160897

Variation tolerance for ABCC2 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCC2 Gene

Human Gene Mutation Database (HGMD)
ABCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC2 Gene

Disorders for ABCC2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ABCC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dubin-johnson syndrome
  • djs
bilirubin metabolic disorder
  • hereditary hyperbilirubinemia
cholestasis
  • bile occlusion
intrahepatic cholestasis of pregnancy
  • gravidic intrahepatic cholestasis
hyperbilirubinemia, rotor type
  • hblrr
- elite association - COSMIC cancer census association via MalaCards
Search ABCC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MRP2_HUMAN
  • Dubin-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:11093739, ECO:0000269 PubMed:11266082, ECO:0000269 PubMed:11477083, ECO:0000269 PubMed:22290738, ECO:0000269 PubMed:25336012, ECO:0000269 PubMed:9425227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ABCC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCC2: view

No data available for Genatlas for ABCC2 Gene

Publications for ABCC2 Gene

  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. (PMID: 11500505) Ito K … Cole SP (The Journal of biological chemistry 2001) 3 4 23 26 56
  2. A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation. (PMID: 8797578) Taniguchi K … Kuwano M (Cancer research 1996) 2 3 4 23 56
  3. A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy. (PMID: 20216337) Kim WJ … Lee MG (Pharmacogenetics and genomics 2010) 3 23 43 56
  4. Telmisartan pharmacokinetics in Japanese renal transplant recipients. (PMID: 18838068) Miura M … Suzuki T (Clinica chimica acta; international journal of clinical chemistry 2009) 3 23 43 56
  5. Multidrug resistance-related protein 2 genotype of the donor affects kidney graft function. (PMID: 19214140) Grisk O … Rettig R (Pharmacogenetics and genomics 2009) 3 23 43 56

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