Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Dubin-Johnson syndrome
ABCC2

References:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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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7.

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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8.

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

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9.

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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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.

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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12.

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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13.

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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14.

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

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15.

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

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Update: Sept. 26, 2018