ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 [Homo sapiens] - Gene

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Summary

Official Symbol: ABCC2provided by HGNC
Official Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 2provided by HGNC
Primary source: HGNC:53
Locus tag: RP11-114F7.2
See related: Ensembl:ENSG00000023839; HPRD:03065; MIM:601107; Vega:OTTHUMG00000018895
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; KIAA1010
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]

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Genomic context

Location :: 10q24

Sequence :: Chromosome: 10; NC_000010.10 (101542463..101611662)

See ABCC2 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Study examined associations between functional variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes in patients with epithelial ovarian/primary peritoneal cancer (EOC/PPC) following platinum and taxane-based chemotherapy.
Title: Common variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes among women with advanced stage ovarian cancer treated with platinum and taxane-based chemotherapy: a Gynecologic Oncology Group study.
We found that the frequencies of polymorphisms and haplotypes of ABCB1, SLCO1B1 and ABCC2 were similar in patients with ATD-induced hepatitis and ATD-tolerant controls.
Title: Polymorphisms in drug transporter genes (ABCB1, SLCO1B1 and ABCC2) and hepatitis induced by antituberculosis drugs.
Ezrin is required for the apical cell surface localization of MRP2 during Salmonella typhimurium infection.
Title: The ERM protein, ezrin, regulates neutrophil transmigration by modulating the apical localization of MRP2 in response to the SipA effector protein during Salmonella Typhimurium infection.
Expression of MRP2 and Bcl-2 was significantly higher in esophageal squamous cell carcinoma than in normal mucosa.
Title: Expression and significance of tumor drug resistance related proteins and beta-catenin in esophageal squamous cell carcinoma.
Study generated transporter protein MRP2 fused with the S-peptide of ribonuclease for use as standard in immunoquantification in human liver and small intestine.
Title: Absolute immunoquantification of the expression of ABC transporters P-glycoprotein, breast cancer resistance protein and multidrug resistance-associated protein 2 in human liver and duodenum.
The protein expression levels of multidrug resistance-associated protein (MRP) 2 were downregulated by As(III) in chorion cells, but not in amnion cells.
Title: Contribution of aquaporin 9 and multidrug resistance-associated protein 2 to differential sensitivity to arsenite between primary cultured chorion and amnion cells prepared from human fetal membranes.
these results suggest that ABCC2 genotype may also modulate the response to anticonvulsants
Title: Impact of ABCC2 genotype on antiepileptic drug response in Caucasian patients with childhood epilepsy.
review focuses on genetic polymorphisms of ABCB1 and ABCC2 and critically analyses important publications dealing with the influence of ABCB1 and/or ABCC2 polymorphisms on drug disposition [review]
Title: Genetic polymorphisms of ATP-binding cassette transporters ABCB1 and ABCC2 and their impact on drug disposition.
SNPs in the MRP2 nucleotide-binding domains (S789F in the D-loop of NBD1, or A1450T near the ABC signature motif of NBD2) variably decreased the transport of all substrates
Title: Functional analysis of nonsynonymous single nucleotide polymorphisms of multidrug resistance-associated protein 2 (ABCC2).
Phenotype-genotype relationships were studied in 74 healthy subjects by measuring individual urinary coproporphyrin ratio and by analyzing five common single nucleotide polymorphisms in ABCC2 gene.
Title: Urinary elimination of coproporphyrins is dependent on ABCC2 polymorphisms and represents a potential biomarker of MRP2 activity in humans.

Submit: New GeneRIF Correction See all (122)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q92887	P27824	CANX	HPRD	PubMed
Q92887	Q86UT5	PDZD3	HPRD	PubMed
Q92887	Q5T2W1	PDZK1	HPRD	PubMed
Q92887	P35241	RDX	HPRD	PubMed
Q92887	O14745	SLC9A3R1	HPRD	PubMed
BioGRID:107647	BioGRID:122940	PDZD3	BioGRID	PubMed	Reconstituted Complex
BioGRID:107647	BioGRID:111200	PDZK1	BioGRID	PubMed	Two-hybrid
BioGRID:107647	BioGRID:202845	Rdx	BioGRID	PubMed	Reconstituted Complex
BioGRID:107647	BioGRID:114769	SLC9A3R1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107647	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATPase activity	IEA Inferred from Electronic Annotation more info
ATPase activity, coupled to transmembrane movement of substances	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
organic anion transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
organic anion transport	TAS Traceable Author Statement more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
integral to plasma membrane	IEA Inferred from Electronic Annotation more info
intercellular canaliculus	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: canalicular multispecific organic anion transporter 1

Names: canalicular multispecific organic anion transporter 1; canalicular multidrug resistance protein; multidrug resistance-associated protein 2; ATP-binding cassette sub-family C member 2

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NCBI Reference Sequences (RefSeq)

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_011798.1 RefSeqGene

Range

5001..74200

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000392.3 → NP_000383.1 canalicular multispecific organic anion transporter 1

Status: REVIEWED

Source sequence(s)

BM765259, CB120555, U49248, U63970

Consensus CDS

CCDS7484.1

UniProtKB/Swiss-Prot

Q92887

Related

ENSP00000359478, OTTHUMP00000020267, ENST00000370449, OTTHUMT00000049825

Conserved Domains (4) summary

cd03244
Location:1298 – 1518
Blast Score: 964

ABCC_MRP_domain2; Domain 2 of the ABC subfamily C. This family is also known as MRP (mulrtidrug resisitance-associated protein). Some of the MRP members have five additional transmembrane segments in their N-terminus, but the function of these additional ...

cd03250
Location:637 – 838
Blast Score: 825

ABCC_MRP_domain1; Domain 1 of the ABC subfamily C. This family is also known as MRP (mulrtidrug resisitance-associated protein). Some of the MRP members have five additional transmembrane segments in their N-terminas, but the function of these additional ...

TIGR00957
Location:8 – 1537
Blast Score: 3826

MRP_assoc_pro; multi drug resistance-associated protein (MRP)

cl00549
Location:976 – 1256
Blast Score: 340

ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

101542463..101611662

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

95169835..95239503

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF144630.1	AAD47599.1
genomic	AJ132244.1	CAB45309.1
genomic	AL133353.6	CAI14502.1
		CAI14503.1
genomic	AL392107.17	CAI11010.1
genomic	CH471066.2	EAW49852.1
		EAW49853.1
genomic	CS172499.1	CAJ33679.1
genomic	GM000488.1	CAS97349.1
mRNA	BC136419.1	AAI36420.1
mRNA	BM765259.1	None
mRNA	CB120555.1	None
mRNA	U49248.1	AAB09422.1
mRNA	U63970.1	AAB39892.1
mRNA	U66683.1	None
mRNA	X96395.2	CAA65259.2

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q5TCZ5	GenPept	UniProtKB/TrEMBL:Q5TCZ5
Q92887.3	GenPept	UniProtKB/Swiss-Prot:Q92887
Q9UN90	GenPept	UniProtKB/TrEMBL:Q9UN90