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FLASH GENE

Symbol

ABCC2

contributors: mct - updated : 13-03-2009

HGNC name	ATP-binding cassette, sub-family C (CFTR/MRP), member 2
HGNC id	53

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DJS Dubin-Johnson syndrome
Location	10q24.2      Physical location : 101.542.462 - 101.611.662
Synonym name	canalicular multispecific organic anion transporter 1, rat ortholog
	canalicular multidrug resistance protein
	multidrug resistance protein 2
Synonym symbol(s)	KIAA1010, MRP2, CMOAT, ABC30, DJS, CMOAT1, CMRP

DNA

TYPE	functioning gene
STRUCTURE	69.20 kb     32 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	ARE (antioxidant-response element) in the promoter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000392 32 - 5051 NP_000383 174.1 1545 - 2008 19038257

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Homo sapiens

cell lineage
cell lines	hepatocellular carcinoma cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two tandemly repeated polytopic membrane-spanning domains (MSDs) typical of ABC transporters
	a third NH(2)-terminal MSD
	two ATP binding cassette (nucleotide binding fold) each containing three highly conserved motifs in ABC transporter Walker A, B, C
	three transmembrane (3TM) domains (3 x 6 segments), with alternative splicing
	the transmembrane domains involved in substrate recognition/transport
	a seven-amino-acid extension at its C-terminus with the last three amino acids (TKF) comprising a PDZ-interacting motif, a class I PDZ-binding motif STKF
	cytoplasmic loop 3 with a lysine-rich element that is essential for apical targeting, is important for interaction with both the glutathione and glucuronide conjugates

HOMOLOGY

interspecies	ortholog to rattus Abcc2
	homolog to murine Abcc2

Homologene

FAMILY	ABC transporter superfamily
	ABCC family
	conjugate transporter subfamily

CATEGORY

regulatory , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
text	canalicular apical membrane of hepatocyte and kidney proximal tubule

basic FUNCTION	ABC transporter, traffic ATPase exporting anionic conjugates across the apical membrane of polarized cells
	excretes amphiphilic organic anions into bile
	glutathione (GSH) conjugate (GS-x) pump or canalicular multispecific anion transporter, cellular cisplatin transporter
	having specific biologic functions in epidermal lipid reorganization during terminal keratinocyte differentiation
	localized at the canalicular membrane of hepatocytes and playing an important role in bile formation and detoxification

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	biliary transport

PATHWAY

metabolism

drug

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds NFE2L2 (regulation of ABCC2 expression via the ARE element located at the proximal region of the promoter in response to exposure to xenobiotics)
	can bind to SLC9A3R1, a PDZ protein that cross-links membrane proteins to actin filaments

cell & other

interaction with cholesterol (similarly affects the transport function of ABCC2 by interacting with its putative substrate-binding site and transport substrates)

REGULATION

Other

inverse of ABCC3

ASSOCIATED DISORDERS

corresponding disease(s)

DJS

Susceptibility

to nonalcoholic fatty liver disease to intrahepatic cholestasis of pregnancy (ICP)

Variant & Polymorphism other	variant for rs17222723 and rs8187710 increasing the risk of nonalcoholic fatty liver disease
	association between the rs3740066 in exon 28 of ABCC2 gene and ICP

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS