ABCB11 (ATP binding cassette subfamily B member 11)

Gene

• Entrez ID: 8647
• Gene name: ATP binding cassette subfamily B member 11
• Gene symbol: ABCB11
• Synonyms: ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: 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, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2287617	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs11568360	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, synonymous variant, coding sequence variant
rs11568361	G>A,C	Uncertain-significance, pathogenic, likely-benign	Missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs11568362	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant
rs11568370	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs11568372	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs72549395	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72549396	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs72549397	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs72549398	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs72549399	C>T	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs72549401	G>A	Pathogenic	Coding sequence variant, stop gained
rs72549402	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs121908935	C>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs138800291	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs140138979	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs140587295	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs143484849	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs147649016	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs183214630	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs183390670	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs183406496	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs183621659	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs188824058	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs188996270	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs192375476	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs199649780	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs199940188	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs200087122	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200912109	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201087979	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs201240844	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201287126	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201881755	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs367874361	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs369104228	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs375137002	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, synonymous variant, coding sequence variant
rs387906354	T>G	Pathogenic	Genic upstream transcript variant, intron variant
rs387907317	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs750944055	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs750991541	G>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs752919965	->ATCTC	Pathogenic	Synonymous variant, frameshift variant, coding sequence variant, terminator codon variant
rs752992432	C>G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs756529333	G>A	Pathogenic	Stop gained, missense variant, coding sequence variant
rs758069019	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs760750012	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs763782349	C>T	Pathogenic	Coding sequence variant, missense variant
rs764296800	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, 5 prime UTR variant
rs764581483	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs765070028	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs769910565	A>C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Intron variant
rs770497192	C>A,G	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs772294884	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs774824767	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs776223452	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778992761	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886043703	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886043807	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs886043875	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886043935	C>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs886043986	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886044710	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs917981474	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1026511416	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant, upstream transcript variant, genic upstream transcript variant
rs1060499579	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1064797270	AA>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1258387740	A>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1459273753	C>T	Pathogenic	Splice donor variant
rs1553466082	C>T	Pathogenic	Splice acceptor variant
rs1553466489	A>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553469602	C>-	Pathogenic	Splice donor variant, genic upstream transcript variant, coding sequence variant
rs1553545923	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553546495	C>-	Pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant
rs1558894166	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558898789	A>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1558912774	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1558917090	C>A	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1558927163	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1559183490	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs1559183717	G>A	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1574415650	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574415738	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574445178	A>G	Likely-pathogenic	Splice donor variant
rs1574453486	CACAGGGGTCATAGAATCGCTGAATGAGTTGCAGTGCTGTACTTTTTCCAGCTCCACTGGGTCCTACCAGAGCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1574453508	->GAAGGAATCA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1574462504	->AT	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006901	hsa-miR-33a-5p	Luciferase reporter assay, qRT-PCR	22767443
MIRT519041	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519042	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519043	hsa-miR-5095	PAR-CLIP	23446348
MIRT519044	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT519045	hsa-miR-1538	PAR-CLIP	23446348
MIRT519046	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519047	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519048	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT519049	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT519050	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT519051	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT661008	hsa-miR-4307	HITS-CLIP	23824327
MIRT661010	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT661011	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT661012	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT661013	hsa-miR-1266-3p	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
NR1H4	Unknown	11387316
NR5A2	Unknown	18270374
RXRA	Unknown	11387316

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005215	Function	Transporter activity	TAS	9806540
GO:0005515	Function	Protein binding	IPI	22262466, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	ISS
GO:0005886	Component	Plasma membrane	IDA	22262466
GO:0005886	Component	Plasma membrane	IMP	20010382, 24643070, 29507376, 30431138
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	9806540
GO:0006631	Process	Fatty acid metabolic process	ISS
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006855	Process	Drug transmembrane transport	IMP	15901796, 18245269
GO:0006855	Process	Drug transmembrane transport	ISS
GO:0008206	Process	Bile acid metabolic process	IDA	32203132
GO:0008206	Process	Bile acid metabolic process	IMP	20010382, 29507376
GO:0008206	Process	Bile acid metabolic process	ISS
GO:0008554	Function	P-type sodium transporter activity	TAS	9806540
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	18245269
GO:0008559	Function	ABC-type xenobiotic transporter activity	ISS
GO:0009986	Component	Cell surface	IMP	15791618
GO:0015125	Function	Bile acid transmembrane transporter activity	IMP	20010382, 20398791, 29507376
GO:0015125	Function	Bile acid transmembrane transporter activity	ISS
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IBA	21873635
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IDA	32203132
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	IMP	22262466, 24711118
GO:0015126	Function	Canalicular bile acid transmembrane transporter activity	ISS
GO:0015432	Function	ABC-type bile acid transporter activity	IBA	21873635
GO:0015432	Function	ABC-type bile acid transporter activity	IDA	18985798, 32203132
GO:0015432	Function	ABC-type bile acid transporter activity	IMP	15791618, 15901796
GO:0015432	Function	ABC-type bile acid transporter activity	ISS
GO:0015432	Function	ABC-type bile acid transporter activity	TAS
GO:0015721	Process	Bile acid and bile salt transport	IDA	18985798
GO:0015721	Process	Bile acid and bile salt transport	IMP	15791618, 15901796, 19228692, 20010382, 29507376
GO:0015721	Process	Bile acid and bile salt transport	ISS
GO:0015721	Process	Bile acid and bile salt transport	TAS
GO:0015722	Process	Canalicular bile acid transport	IBA	21873635
GO:0015722	Process	Canalicular bile acid transport	IDA	32203132
GO:0015722	Process	Canalicular bile acid transport	IMP	20398791, 22262466
GO:0015722	Process	Canalicular bile acid transport	ISS
GO:0016020	Component	Membrane	TAS	9806540
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IMP	15791618
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016567	Process	Protein ubiquitination	IMP	18829893
GO:0016567	Process	Protein ubiquitination	ISS
GO:0016887	Function	ATPase activity	IEA
GO:0017144	Process	Drug metabolic process	IMP	18245269
GO:0017144	Process	Drug metabolic process	ISS
GO:0031998	Process	Regulation of fatty acid beta-oxidation	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042908	Process	Xenobiotic transport	IEA
GO:0046581	Component	Intercellular canaliculus	IEA
GO:0046618	Process	Drug export	IMP	18245269
GO:0046618	Process	Drug export	ISS
GO:0046691	Component	Intracellular canaliculus	ISS
GO:0055037	Component	Recycling endosome	ISS
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055088	Process	Lipid homeostasis	ISS
GO:0055091	Process	Phospholipid homeostasis	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0120189	Process	Positive regulation of bile acid secretion	ISS
GO:1904251	Process	Regulation of bile acid metabolic process	ISS

Other IDs

• MIM: 603201
• HGNC: 42
• e!Ensembl: ENSG00000073734

Protein

• UniProt ID: O95342
• Protein name: Bile salt export pump (EC 7.6.2.-) (ATP-binding cassette sub-family B member 11)
• Protein function: Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269).
• PDB: 6LR0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	62 → 371	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	438 → 587	ABC transporter	Domain
  PF00664	ABC_membrane	755 → 1029	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1096 → 1247	ABC transporter	Domain

• Sequence:

  MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIW
  LMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLN
  QNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFR
  RIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWK
  LTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKRE
  VERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLV
  QIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEI
  EFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVT
  VDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNF
  IMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEV
  LSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQG
  NQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKST
  YEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQIL
  GTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAML
  GQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKL
  SLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFI
  EALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRV
  ISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDF
  VDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMID
  GHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDF
  VMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVA
  LDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPI
  S

• Sequence length: 1321