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ABCB11 Gene

protein-coding GIFtS: 60

GC02M169487

ATP-binding cassette, sub-family B (MDR/TAP), member 11
(Previous name: progressive familial intrahepatic cholestasis 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: BSEP, PFIC2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ABC16 ^¹, ²
BRIC2 ^², ⁵
BSEP ^², ³, ⁵
PFIC-2 ^¹, ²
PFIC2 ^², ⁵
PGY4 ^¹, ²
SPGP ^¹, ², ⁵

Descriptions
ABC member 16, MDR/TAP subfamily ^²
ATP-binding cassette sub-family B member 11 ^³
ATP-binding cassette, sub-family B (MDR/TAP), member 11 ^²
bile salt export pump ^²
progressive familial intrahepatic cholestasis 2 ^¹, ²
sister p-glycoprotein ^²

External Ids
HGNC: 42¹
Entrez Gene: 8647²
UniProtKB: O95342³
Ensembl: ENSG00000073734⁷

Search outside databases for aliases for ABCB11 gene

Previous GC identifers: GC02M167831 GC02M168321 GC02M169743 GC02M169981 GC02M169604

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCB11:

The membrane-associated 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 MDR/TAP subfamily. Members of the

MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the

major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive

familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic

liver disease from early infancy. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342

Function: Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCB11 gene

Entrez Gene cytogenetic band: 2q24 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q24

ABCB11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M169487: (about GC identifiers)

Start:	169,487,694 bp from pter
End:	169,596,079 bp from pter
Size:	108,386 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000002.10 NT_005403.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342 (See protein sequence)

Recommended Name: Bile salt export pump

Size: 1321 amino acids; 146393 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q9UNB2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_003733.2

ENSEMBL proteins:

ENSP00000263817

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for ABCB11
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ABCB11)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	TAS	9806540
GO:0005887	integral to plasma membrane	TAS	9806540
GO:0016020	membrane	IEA	--
GO:0045177	apical part of cell	IEA	--
GO:0046581	intercellular canaliculus	IEA	--

About this table

Antibodies for ABCB11:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ABCB11
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ABCB11), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCB11)
	Search Novus for antibodies for ABCB11

Assays for ABCB11:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry O95342

ProtoNet protein and cluster: O95342

UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342

Domain: Multifunctional polypeptide with two homologous halves, each containing an hydrophobic

membrane-anchoring domain and an ATP binding cassette (ABC) domain

Similarity: Belongs to the ABC transporter family. Multidrug resistance exporter (TC 3.A.1.201)

subfamily

Similarity: Contains 2 ABC transmembrane type-1 domains

Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCB11)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCB11)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003742

Applied Biosystems Silencer® siRNAs for ABCB11

Sigma-Aldrich siRNA and siRNA Panels for ABCB11

Sigma-Aldrich shRNA for ABCB11

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_003742
Myc/DDK tagged cDNA clone in CMV expression vector: NM_003742
untagged cDNA clones in CMV expression vector (see all 2): NM_003742

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_003742

UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342

Function: Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes

Biophysicochemical properties: Kinetic parameters: KM=30.4 uM for taurocholate; Vmax=232

pmol/min/mg enzyme for taurocholate transport;

Genatlas biochemistry entry for ABCB11:

ATP binding cassette superfamily,subfamily B (MDR/TAP) member 11,expressed in the canalicular

microvilli and subcanicular vesicles of the hepatocytes

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Abcb11):

growth/size

homeostasis/metabolism

liver/biliary system

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005215	transporter activity	TAS	9806540
GO:0005524	ATP binding	TAS	9806540
GO:0008554	sodium-exporting ATPase activity, phosphorylative mechanism	TAS	9806540
GO:0015432	bile acid-exporting ATPase activity	TAS	9806540

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

4 Sigma-Aldrich "Your Favorite Gene" Pathways for ABCB11 (Your Favorite Gene powered by Ingenuity)

FXR/RXR Activation
Hepatic Cholestasis
PXR/RXR Activation
LPS/IL-1 Mediated Inhibition of RXR Function

GeneDecks ABCB11 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for ABCB11

5/24 Interacting proteins for ABCB11 (ENSP00000263817³) via UniProtKB, MINT, and/or STRING (see all 24 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NR1H4	ENSP00000188403³	STRING (score=.977)
SLC10A1	ENSP00000216540³	STRING (score=.973)
SLCO1B1	ENSP00000256958³	STRING (score=.973)
SLCO1B3	ENSP00000370956³	STRING (score=.972)
ATP8B1	ENSP00000283684³	STRING (score=.968)

About this table

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	9806540

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCB11
10/30 Novoseek chemical compound relationships for ABCB11 gene (see all 30 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
bodipy-verapamil	84.25	2	1681415 (1), 15308763 (1)
azidopine	74.37	1	1360010 (1)
gf 120918	72.18	3	16940108 (1), 12384350 (1)
tariquidar	71.80	6	19034106 (3), 15986399 (2)
rhodamine 123	71.72	5	7646552 (1), 7504150 (1), 10617675 (1), 7929531 (1) (see all 5)
colchicine	68.78	4	9220975 (1), 15049699 (1), 7909160 (1), 9551613 (1)
vanadate	63.81	1	9482283 (1)
ly335979	62.16	1	16940108 (1)
atp	57.73	34	16505485 (2), 8093688 (2), 12404240 (2), 16489767 (2) (see all 25)
cholic acid	46.68	3	14684751 (3)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCB11)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCB11)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003742

Sigma-Aldrich siRNA and siRNA Panels for ABCB11

Sigma-Aldrich shRNA for ABCB11

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_003742

REFSEQ mRNAs for ABCB11 gene:

NM_003742.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_003742

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003742
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_003742
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_003742

Additional cDNA sequence:

AB012959.1 AF091582.1 AF136523.1 AK302540.1 AK303050.1

4 DOTS entries:

DT.92072028 DT.91751051 DT.97804514 DT.401532

21 AceView cDNA sequences:

AA718934 AI247467 NM_003742 AB012959 BV198883 CB161905 AF091582 BX110920

AA682405 BV198828 CD617437 BM312770 CD617439 BM312461 BX494965 BX494964

AA345915 AF136523 AI052627 CB161524 R91010

highest scoring ESTs for ABCB11:

AF091582 AF136523 CD617436 CD617437 CD617438 CD617439 NM_003742 AB012959 AV688259 BF876579

Unigene Cluster for ABCB11:

ATP-binding cassette, sub-family B (MDR/TAP), member 11

Hs.658439 [show with all ESTs]

Unigene Representative Sequence: AF091582

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000263817

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ABCB11 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCB11

¹ / ² / ³

5 probe-sets matching ABCB11 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31398_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AF091582	1.00	1.00	1.00	1
208288_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003742	0.60	1.00	0.82	1
211224_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF136523	0.80	1.00	0.91	1
208288_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211224_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AGCTTTCCAG

SOURCE GeneReport for Unigene cluster: Hs.658439
Expression variation in blood from EXPOLDB for ABCB11
UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342
Tissue specificity: Expressed predominantly, if not exclusively in the liver, where it was further
localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in
situ (By similarity)

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCB11 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCB11¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	89.07(n) 89.7(a)	488390 XM_545512.2 XP_545512.2
chimpanzee (Pan troglodytes)	ABCB11¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	99.22(n) 99.32(a)	470717 XM_526100.2 XP_526100.2
cow (Bos taurus)	ABCB11¹	--	ATP-binding cassette, sub-family B (MDR/TAP), member more	88.87(n) 88.27(a)	531150 XM_609636.3 XP_609636.3
mouse (Mus musculus)	Abcb11^{1, 5}	2 (38.40 cM)⁵	ATP-binding cassette, sub-family B (MDR/TAP), member more^{1, 5}	83.14(n)¹ 82.03(a)¹	27413¹ NM_021022.3¹ NP_066302.2¹ AA066341⁵ AF133903⁵ (see all 15)
zebrafish (Danio rerio)	Dr.28700²	--	Transcribed sequence with weak similarity to protein more	76.33(n)	57049999

About this table Species with no ortholog for ABCB11

ENSEMBL Gene Tree for ABCB11

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ABCB11 gene

ABCB1² SNRNP35² ABCB4²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/835 NCBI SNPs in ABCB11 are shown (see all 835 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 328)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2216504^1,2	A,C,F,H,O	169597354(-)	`TTTGCG/ATCAAC`	1	--	ng3¹		8	EU EA WA NA	1678
	rs478333^1,2	A,C,F,H,O	169487402(-)	`GATGCT/CACCTG`	1	--	ng5¹		11	EA MN EU WA	1202
	rs473351^1,2	A,C,F,H	169488142(-)	`TCCATA/C/G/T TGAGG`	1	--	ut3¹ ese³		12	EU EA WA NA	2358
	rs2287622^1,2	A,C,F,H	169538574(-)	`CATGGA/C/G/T CATTA`	3	V/D V/A V/G	mis¹ ese³		20	EA EU WA NA MN CSAM	3628
	rs3829888^1,2	A,C,F,H	169597088(-)	`ATTTCT/CGCAAA`	1	--	ng3¹ tfbs³		4	EU EA WA	410
	rs496550^1,2	A,C,F,H	169487958(-)	`GGTCTG/ATAACA`	1	--	ut3¹ ese³		19	NA EA MN EU WA CSAM	3014
	rs11568361^1,2	C,F,H	169578250(-)	`TTCATC/TAACTG`	1	S/L	mis¹ ese³		6	EU EA WA NA	648
--	rs495714^1,2	A,C,F	169488010(-)	`CAAGGG/ACAGAG`	1	--	ut3¹		5	MN CSAM EA	396
	rs2241338^1,2	C,F,H	169596214(-)	`CACACT/CCTGTG`	1	--	ng3¹		4	EU EA WA	370
	rs4148765^1,2	C,F,H	169597825(-)	`AGCACG/AATCAA`	1	--	ng3¹		15	NA EU EA WA	1394

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HapMap Linkage Disequilibrium images for ABCB11 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603201 disorders: 601847 605479

UniProtKB/Swiss-Prot: ABCBB_HUMAN, O95342

Defects in ABCB11 are the cause of progressive familial intrahepatic cholestasis type 2

(PFIC2) [MIM:601847]. PFIC2 is an inherited liver disease of childhood which is characterized by

cholestasis and normal serum gamma-glutamyltransferase activity. Defects in ABCB11 are also found

in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver

disease

Defects in ABCB11 are the cause of benign recurrent intrahepatic cholestasis type 2

(BRIC2) [MIM:605479]. BRIC is characterized by intermittent episodes of cholestasis without

progression to liver failure. There is initial elevation of serum bile acids, followed by

cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The

cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes,

both clinically and biochemically

Genetic variations in ABCB11 may play a role in drug-induced cholestasis causing liver

damage

10/30 Novoseek disease relationships for ABCB11 gene (see all 30 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pfic2	91.74	20	16039748 (4), 11172067 (3), 9806540 (2), 18487280 (1) (see all 8)
pfic3	85.52	2	17241866 (1)
cholestasis intrahepatic	83.57	33	16039748 (3), 11172067 (3), 11815775 (2), 11870371 (1) (see all 16)
byler disease	80.71	8	16819395 (1), 19133130 (1), 17241866 (1)
colchicine resistance	73.97	2	15049699 (1), 7909160 (1)
cholestasis	67.44	25	17264802 (4), 17108234 (1), 12739759 (1), 11230744 (1) (see all 11)
cancer	33.69	18	17640301 (2), 16875827 (1), 12678765 (1), 1681415 (1) (see all 16)
liver diseases	30.92	3	12536246 (1), 14699511 (1), 18509747 (1)
biliary cirrhosis primary	24.99	3	14999697 (2)
leukemia	23.66	2	10456672 (1), 7907642 (1)

About this table

GeneTests: ABCB11

Low Gamma-GT Familial Intrahepatic Cholestasis

Human Gene Mutation Database: ABCB11
Genetic Association Database: ABCB11
Human Genome Epidemiology Navigator: ABCB11 (15 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/319 PubMed articles for ABCB11 gene (see all 319 ):

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. (PubMed id 15077010)^{1, 3, 4, 6} Pauli-Magnus C.... Kullak-Ublick G.A. (2004)
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. (PubMed id 9806540)^{1, 2, 3, 4} Strautnieks S.S.... Thompson R.J. (1998)
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. (PubMed id 16039748)^{1, 3, 4} Noe J.... Pauli-Magnus C. (2005)
BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. (PubMed id 14999697)^{1, 3, 6} Pauli-Magnus C....Meier P.J. (2004)
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. (PubMed id 17264802)^{1, 3, 4} Lang C.... Pauli-Magnus C. (2007)
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. (PubMed id 11815775)^{1, 3, 4} Chen H.-L.... Chang M.-H. (2002)
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). (PubMed id 16763017)^{3, 4} Lang T.... Kerb R. (2006)
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. (PubMed id 15300568)^{3, 4} van Mil S.W.C.... Klomp L.W.J. (2004)
Association of single nucleotide polymorphisms of the bile salt export pump gene with intrahepatic cholestasis of pregnancy. (PubMed id 12825874)^{3, 6} Eloranta M.L....Heinonen S. (2003)
Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. (PubMed id 11829140)^{3, 4} Saito S.... Nakamura Y. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 8647	HGNC: 42	AceView: ABCB11	Ensembl:ENSG00000073734	euGenes: HUgn8647
ECgene: ABCB11	H-InvDB: ABCB11

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=ABCB11

Licensable Technologies for ABCB11
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ABCB11:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ABCB11-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ABCB11		Antibodies for ABCB11
	Explore super-pooled esiRNAs		Proteins for ABCB11
	Lentivirus-delivered shRNAs for ABCB11		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
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	Custom Service for Rabbit Pab from Full-length Protein

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for ABCB11

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ABCB11 Gene at Home site.
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ABCB11 Gene

protein-coding GIFtS: 60

Aliases &
Descriptions
for ABCB11

Summaries
for ABCB11

Genomic Location
for ABCB11

Proteins
for ABCB11

Protein Domains/
Families
for ABCB11

Gene Function
for ABCB11

Pathways & Interactions
for ABCB11

Drugs & Compounds
for ABCB11

Transcripts
for ABCB11

Expression
for ABCB11

Orthologs
for ABCB11

Paralogs
for ABCB11

SNPs/Variants
for ABCB11

Disorders & Mutations
for ABCB11

Medical News
for ABCB11

Publications
for ABCB11

Search for ABCB11

Genome Databases showing ABCB11

Other Databases showing ABCB11

Specialized Databases showing ABCB11

Licensable Technologies
for ABCB11

Services
for ABCB11

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCB11 Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor ABCB11

Summariesfor ABCB11

Genomic Locationfor ABCB11

Proteinsfor ABCB11

Protein Domains/Familiesfor ABCB11

Gene Functionfor ABCB11

Pathways & Interactionsfor ABCB11

Drugs & Compoundsfor ABCB11

Transcriptsfor ABCB11

Expression for ABCB11

Orthologsfor ABCB11

Paralogsfor ABCB11

SNPs/Variantsfor ABCB11

Disorders & Mutationsfor ABCB11

Medical Newsfor ABCB11

Publicationsfor ABCB11

Search for ABCB11

Genome Databases showing ABCB11

Other Databases showing ABCB11

Specialized Databases showing ABCB11

Licensable Technologiesfor ABCB11

Servicesfor ABCB11

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCB11

Summaries
for ABCB11

Genomic Location
for ABCB11

Proteins
for ABCB11

Protein Domains/
Families
for ABCB11

Gene Function
for ABCB11

Pathways & Interactions
for ABCB11

Drugs & Compounds
for ABCB11

Transcripts
for ABCB11

Expression
for ABCB11

Orthologs
for ABCB11

Paralogs
for ABCB11

SNPs/Variants
for ABCB11

Disorders & Mutations
for ABCB11

Medical News
for ABCB11

Publications
for ABCB11

Licensable Technologies
for ABCB11

Services
for ABCB11