Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Canalicular multispecific organic anion transporter 1

The ABCC2 gene encodes an ATP dependent membrane transport protein. Mutations are associated with statin intolerance.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Dubin-Johnson syndrome
ABCC2

References:

1.

None (1993) Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis.

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2.

Xu K et al. (2012) miR-297 modulates multidrug resistance in human colorectal carcinoma by down-regulating MRP-2.

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3.

Materna V et al. (2003) Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.

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4.

Evers R et al. (1998) Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA.

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5.

Gopalan G et al. (1998) Chromosome localization of two new mammalian kinases related to yeast and fly chromosome segregation-regulators.

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6.

Taniguchi K et al. (1996) A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation.

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7.

Pacifico L et al. (2010) Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

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8.

Mor-Cohen R et al. (2001) Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.

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9.

Toh S et al. (1999) Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.

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10.

Kajihara S et al. (1998) A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.

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11.

Wada M et al. (1998) Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

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12.

van Kuijck MA et al. (1997) Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization.

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13.

Ito K et al. (1997) Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR.

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14.

Paulusma CC et al. (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene.

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15.

Shani M et al. (1970) Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases.

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16.

NCBI article

NCBI 1244 external link
17.

OMIM.ORG article

Omim 601107 external link
18.

Orphanet article

Orphanet ID 117652 external link
19.

Wikipedia article

Wikipedia EN (Multidrug_resistance-associated_protein_2) external link
Update: Aug. 14, 2020
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