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

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
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: mouse all
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Genomic context

Location:: 10q24.2

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	10	NC_000010.11 (99782602..99853741)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (101542397..101612351)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster.
Title: Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster.
Protein expression of ABCC2 and SLC22A3 associates with prognosis of pancreatic adenocarcinoma.
Title: Protein expression of ABCC2 and SLC22A3 associates with prognosis of pancreatic adenocarcinoma.
Association of ABCC2 with levels and toxicity of methotrexate in Malaysian Childhood Acute Lymphoblastic Leukemia (ALL).
Title: Association of <i>ABCC2</i> with levels and toxicity of methotrexate in Malaysian Childhood Acute Lymphoblastic Leukemia (ALL).
ABCC2 c.-24 C>T single-nucleotide polymorphism was associated with the pharmacokinetic variability of deferasirox in Chinese subjects.
Title: ABCC2 c.-24 C>T single-nucleotide polymorphism was associated with the pharmacokinetic variability of deferasirox in Chinese subjects.
Identification of MRP2 as a targetable factor limiting oxaliplatin accumulation and response in gastrointestinal cancer.
Title: Identification of MRP2 as a targetable factor limiting oxaliplatin accumulation and response in gastrointestinal cancer.
Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3.
Title: Coadministration of vindesine with high-dose methotrexate therapy increases acute kidney injury via BCRP, MRP2, and OAT1/OAT3.
Clinical Implications of Cancer Stem Cell Markers and ABC Transporters as a Predictor of Prognosis in Colorectal Cancer Patients.
Title: Clinical Implications of Cancer Stem Cell Markers and ABC Transporters as a Predictor of Prognosis in Colorectal Cancer Patients.
Bmal1 coordinates temporal expressions of DBP (a MRP2 activator), REV-ERBalpha (an E4BP4 repressor) and E4BP4 (a MRP2 repressor), generating diurnal MRP2 expression.
Title: The Circadian Clock Gene <i>Bmal1</i> Controls Intestinal Exporter MRP2 and Drug Disposition.
High expression of MRP2 is associated with Hepatocellular Carcinoma and in Cholangiocarcinoma.
Title: Immunohistochemical Assessment of the Expression of Biliary Transportation Proteins MRP2 and MRP3 in Hepatocellular Carcinoma and in Cholangiocarcinoma.
associations between ABCC2 genotype, mercury levels, and neurological effects support the hypothesis that some ABCC2 genotypes may have a higher neurotoxic potential, although further functional studies are needed to prove causation
Title: Polymorphisms in potential mercury transporter ABCC2 and neurotoxic symptoms in populations exposed to mercury vapor from goldmining.

Submit: New GeneRIF Correction See all GeneRIFs (240)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dubin-Johnson syndrome MedGen: C0022350 OMIM: 237500 GeneReviews: Not available	Compare labs
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2421 (e-PCR)
- UniSTS:43031

ABCC2 (e-PCR)
- UniSTS:480048

RH119574 (e-PCR)
- UniSTS:132657

SHGC-154232 (e-PCR)
- UniSTS:178029

G49565 (e-PCR)
- UniSTS:109234

D10S2172 (e-PCR)
- UniSTS:28638

Homology

Homologs of the ABCC2 gene: The ABCC2 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, and frog.
Orthologs from Annotation Pipeline: 336 organisms have orthologs with human gene ABCC2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ABC-type xenobiotic transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
ATP binding	IEA Inferred from Electronic Annotation more info
ATPase activity	IEA Inferred from Electronic Annotation more info
ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ATPase-coupled transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
bilirubin transmembrane transporter activity	TAS Traceable Author Statement more info
organic anion transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein domain specific binding	IEA Inferred from Electronic Annotation more info
xenobiotic transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
benzylpenicillin metabolic process	IEA Inferred from Electronic Annotation more info
bile acid and bile salt transport	IMP Inferred from Mutant Phenotype more info	PubMed
bile acid signaling pathway	IEA Inferred from Electronic Annotation more info
bilirubin transport	IEA Inferred from Electronic Annotation more info
canalicular bile acid transport	IEA Inferred from Electronic Annotation more info
cellular chloride ion homeostasis	IEA Inferred from Electronic Annotation more info
cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
cellular response to drug	IEA Inferred from Electronic Annotation more info
cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
cellular response to interleukin-6	IEA Inferred from Electronic Annotation more info
cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
drug export	IMP Inferred from Mutant Phenotype more info	PubMed
drug transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
female pregnancy	IEA Inferred from Electronic Annotation more info
inflammatory response	IEA Inferred from Electronic Annotation more info
leukotriene transport	IEA Inferred from Electronic Annotation more info
mercury ion transport	IEA Inferred from Electronic Annotation more info
negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
prostaglandin transport	IEA Inferred from Electronic Annotation more info
regulation of bile acid secretion	IEA Inferred from Electronic Annotation more info
response to 17alpha-ethynylestradiol	IEA Inferred from Electronic Annotation more info
response to antineoplastic agent	IEA Inferred from Electronic Annotation more info
response to arsenic-containing substance	IEA Inferred from Electronic Annotation more info
response to estradiol	IEA Inferred from Electronic Annotation more info
response to estrogen	IEA Inferred from Electronic Annotation more info
response to glucagon	IEA Inferred from Electronic Annotation more info
response to heat	IEA Inferred from Electronic Annotation more info
response to methotrexate	IEA Inferred from Electronic Annotation more info
response to oxidative stress	IEA Inferred from Electronic Annotation more info
thyroid hormone transport	IEA Inferred from Electronic Annotation more info
transepithelial transport	ISS Inferred from Sequence or Structural Similarity more info
transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info
transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
xenobiotic catabolic process	IEA Inferred from Electronic Annotation more info
xenobiotic detoxification by transmembrane export across the plasma membrane	IEA Inferred from Electronic Annotation more info
xenobiotic transport across blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
brush border membrane	IEA Inferred from Electronic Annotation more info
cell surface	HDA more info	PubMed
cell surface	IDA Inferred from Direct Assay more info	PubMed
integral component of plasma membrane	IEA Inferred from Electronic Annotation more info
intercellular canaliculus	IEA Inferred from Electronic Annotation more info
intracellular canaliculus	IEA Inferred from Electronic Annotation more info
membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: canalicular multispecific organic anion transporter 1

Names: ATP-binding cassette, sub-family C (CFTR/MRP), member 2; canalicular multidrug resistance protein; multidrug resistance-associated protein 2

NP_000383.2

EC 7.6.2.2

XP_006717693.1

EC 7.6.2.2

XP_006717694.1

EC 7.6.2.2

XP_011537593.1

EC 7.6.2.2

XP_016871164.1

EC 7.6.2.2

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

NG_011798.2 RefSeqGene

Range

5043..74997

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1208

mRNA and Protein(s)

NM_000392.5 → NP_000383.2 canalicular multispecific organic anion transporter 1

Status: REVIEWED

Source sequence(s)

AL133353, AL392107, U49248, U63970

Consensus CDS

CCDS7484.1

Related

ENSP00000497274.1, ENST00000647814.1

Conserved Domains (1) summary

cl26602
Location:8 → 1537

SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p13 Primary Assembly

Range

99782602..99853741

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539291.3 → XP_011537593.1 canalicular multispecific organic anion transporter 1 isoform X2

Conserved Domains (3) summary

cd03250
Location:637 → 838

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

COG1132
Location:310 → 857

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

cl00549
Location:326 → 593

ABC_membrane; ABC transporter transmembrane region
XM_006717631.4 → XP_006717694.1 canalicular multispecific organic anion transporter 1 isoform X3

Conserved Domains (3) summary

cd03250
Location:637 → 838

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

COG1132
Location:310 → 857

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

cl00549
Location:326 → 593

ABC_membrane; ABC transporter transmembrane region
XM_017015675.2 → XP_016871164.1 canalicular multispecific organic anion transporter 1 isoform X4
XM_006717630.3 → XP_006717693.1 canalicular multispecific organic anion transporter 1 isoform X1

Conserved Domains (5) summary

cd03244
Location:1066 → 1286

ABCC_MRP_domain2; ATP-binding cassette domain 2 of multidrug resistance-associated protein

cd03250
Location:405 → 606

ABCC_MRP_domain1; ATP-binding cassette domain 1 of multidrug resistance-associated protein, subfamily C

TIGR01271
Location:78 → 1290

CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

pfam00664
Location:751 → 1017

ABC_membrane; ABC transporter transmembrane region

cl00549
Location:94 → 361

ABC_membrane; ABC transporter transmembrane region