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; 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: mouse all
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Genomic context

Location:: 10q24.2

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (99782640..99852594)
RS_2023_03	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_000010.11 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?

Genetic variations in ABC transporter genes as a predictive biomarker for toxicity in North Indian lung cancer patients undergoing platinum-based doublet chemotherapy.
Title: Genetic variations in ABC transporter genes as a predictive biomarker for toxicity in North Indian lung cancer patients undergoing platinum-based doublet chemotherapy.
Association Between ABCG2, ABCB1, ABCC2 Efflux Transporter Single-Nucleotide Variants and Irinotecan Adverse Effects in Patients With Colorectal Cancer: A Real-Life Study.
Title: Association Between ABCG2, ABCB1, ABCC2 Efflux Transporter Single-Nucleotide Variants and Irinotecan Adverse Effects in Patients With Colorectal Cancer: A Real-Life Study.
Impact of ABCC2 1249G>A and -24C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China.
Title: Impact of ABCC2 1249G>A and -24C>T Polymorphisms on Lacosamide Efficacy and Plasma Concentrations in Uygur Pediatric Patients With Epilepsy in China.
Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.
Title: Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.
Effects of splicing-regulatory polymorphisms in ABCC2, ABCG2, and ABCB1 on methotrexate exposure in Chinese children with acute lymphoblastic leukemia.
Title: Effects of splicing-regulatory polymorphisms in ABCC2, ABCG2, and ABCB1 on methotrexate exposure in Chinese children with acute lymphoblastic leukemia.
In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.
Title: In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.
Multidrug resistance-associated protein 2 (MRP2) is an efflux transporter of EGCG and its metabolites in the human small intestine.
Title: Multidrug resistance-associated protein 2 (MRP2) is an efflux transporter of EGCG and its metabolites in the human small intestine.
Contribution of child ABC-transporter genetics to prenatal MeHg exposure and neurodevelopment.
Title: Contribution of child ABC-transporter genetics to prenatal MeHg exposure and neurodevelopment.
The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review.
Title: The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review.
Slug Mediates MRP2 Expression in Non-Small Cell Lung Cancer Cells.
Title: Slug Mediates MRP2 Expression in Non-Small Cell Lung Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (261)

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

EBI GWAS Catalog

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

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

Gene Ontology Provided by GOA

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

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 leukotriene transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
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 more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in intercellular canaliculus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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

EC 7.6.2.2

EC 7.6.2.3

XP_006717693.1

EC 7.6.2.2

EC 7.6.2.3

XP_006717694.1

EC 7.6.2.2

EC 7.6.2.3

XP_011537593.1

EC 7.6.2.2

EC 7.6.2.3

XP_016871164.1

EC 7.6.2.2

EC 7.6.2.3

XP_047280554.1

EC 7.6.2.2

EC 7.6.2.3

XP_054220766.1

EC 7.6.2.2

EC 7.6.2.3

XP_054220767.1

EC 7.6.2.2

EC 7.6.2.3

XP_054220768.1

EC 7.6.2.2

EC 7.6.2.3

XP_054220769.1

EC 7.6.2.2

EC 7.6.2.3

XP_054220770.1

EC 7.6.2.2

EC 7.6.2.3

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 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:8 → 1537

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

99782640..99852594

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424598.1 → XP_047280554.1 ATP-binding cassette sub-family C member 2 isoform X2
XM_011539291.4 → XP_011537593.1 ATP-binding cassette sub-family C member 2 isoform X3

Conserved Domains (1) summary

TIGR00957
Location:8 → 914

MRP_assoc_pro; multi drug resistance-associated protein (MRP)
XM_006717631.5 → XP_006717694.1 ATP-binding cassette sub-family C member 2 isoform X4

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_017015675.3 → XP_016871164.1 ATP-binding cassette sub-family C member 2 isoform X5
XM_006717630.4 → XP_006717693.1 ATP-binding cassette sub-family C member 2 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

RNA

XR_945604.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

100665562..100736331

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364792.1 → XP_054220767.1 ATP-binding cassette sub-family C member 2 isoform X2
XM_054364793.1 → XP_054220768.1 ATP-binding cassette sub-family C member 2 isoform X3
XM_054364794.1 → XP_054220769.1 ATP-binding cassette sub-family C member 2 isoform X4
XM_054364795.1 → XP_054220770.1 ATP-binding cassette sub-family C member 2 isoform X5
XM_054364791.1 → XP_054220766.1 ATP-binding cassette sub-family C member 2 isoform X1