Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8647
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily B member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCB11
Synonyms (NCBI Gene) Gene synonyms aliases	ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BRIC2, PFIC2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(86)

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

Show/Hide all(60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006901	hsa-miR-33a-5p	Luciferase reporter assay, qRT-PCR	22767443
MIRT661013	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT661012	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT661011	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT661010	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT661008	hsa-miR-4307	HITS-CLIP	23824327
MIRT519051	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT519050	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT519049	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT519047	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519048	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT519046	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519045	hsa-miR-1538	PAR-CLIP	23446348
MIRT519044	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT519043	hsa-miR-5095	PAR-CLIP	23446348
MIRT519042	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519041	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT661013	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT661012	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT661011	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT661010	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT661008	hsa-miR-4307	HITS-CLIP	23824327
MIRT519051	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT519050	hsa-miR-449b-3p	PAR-CLIP	23446348
MIRT519049	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT519047	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519048	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT519046	hsa-miR-6720-3p	PAR-CLIP	23446348
MIRT519045	hsa-miR-1538	PAR-CLIP	23446348
MIRT519044	hsa-miR-4745-3p	PAR-CLIP	23446348
MIRT519043	hsa-miR-5095	PAR-CLIP	23446348
MIRT519042	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519041	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT755308	hsa-miR-199a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34774795
MIRT758121	hsa-miR-4422	CLIP-seq
MIRT758122	hsa-miR-4509	CLIP-seq
MIRT758123	hsa-miR-4643	CLIP-seq
MIRT758124	hsa-miR-466	CLIP-seq
MIRT758125	hsa-miR-4744	CLIP-seq
MIRT758126	hsa-miR-4789-3p	CLIP-seq
MIRT758127	hsa-miR-4795-3p	CLIP-seq
MIRT758128	hsa-miR-944	CLIP-seq
MIRT2165063	hsa-miR-3614-5p	CLIP-seq
MIRT2165064	hsa-miR-488	CLIP-seq
MIRT2467017	hsa-miR-204	CLIP-seq
MIRT2467018	hsa-miR-211	CLIP-seq
MIRT2467019	hsa-miR-4446-5p	CLIP-seq
MIRT2467020	hsa-miR-4469	CLIP-seq
MIRT2467021	hsa-miR-4727-5p	CLIP-seq
MIRT2467022	hsa-miR-4755-5p	CLIP-seq
MIRT2467023	hsa-miR-544	CLIP-seq
MIRT2467024	hsa-miR-623	CLIP-seq
MIRT2467017	hsa-miR-204	CLIP-seq
MIRT2467018	hsa-miR-211	CLIP-seq
MIRT2467019	hsa-miR-4446-5p	CLIP-seq
MIRT2467020	hsa-miR-4469	CLIP-seq
MIRT2467021	hsa-miR-4727-5p	CLIP-seq
MIRT2467022	hsa-miR-4755-5p	CLIP-seq
MIRT2467023	hsa-miR-544	CLIP-seq
MIRT2467024	hsa-miR-623	CLIP-seq

Transcription factors

Show/Hide all(3)

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

Show/Hide all(65)

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

MIM	HGNC	e!Ensembl
603201	42	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 in hepatic bile acid homeostasis an

PDB

6LR0 , 7DV5 , 7E1A , 8PM6 , 8PMD , 8PMJ

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

Tissue specificity

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.

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

Interactions

View interactions

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Benign Intrahepatic Cholestasis	benign recurrent intrahepatic cholestasis type 2	GenCC
Metabolic Syndrome	Metabolic Syndrome	GWAS
Intrahepatic Cholestasis Of Pregnancy	Intrahepatic Cholestasis Of Pregnancy	GWAS
Gout	Gout	GWAS

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Inhibit	35995956
Acute Disease	Associate	35894240
Alcoholism	Associate	22522591
Behcet Syndrome	Associate	28150711
Biliary Atresia	Associate	34964797, 35029214
Carcinoma Ductal	Associate	32203204
Carcinoma Hepatocellular	Associate	24462510, 28425419, 29138286, 36995996
Chemical and Drug Induced Liver Injury	Associate	12052824, 24154606, 24335466, 32634627, 37949847
Cholangiocarcinoma	Associate	18395098, 21691113
Cholangitis Sclerosing	Associate	31886153
Cholelithiasis	Associate	31538484, 33893772
Cholestasis	Associate	17241866, 18176959, 18395921, 20683201, 21490445, 23197899, 24115678, 24335466, 25022842, 27050426, 27493120, 27759057, 28027573, 28150711, 30934130 View all (10 more)
Cholestasis	Inhibit	27538918
Cholestasis Intrahepatic	Associate	12052824, 17241866, 22947535, 24969679, 26678486, 31538484, 31630127, 34016879
Cholestasis Intrahepatic	Inhibit	33893772
Cholestasis progressive familial intrahepatic 1	Associate	18798335, 20447715, 25022842, 26678486, 28476903, 29973134, 31296176, 31630127, 33899189, 38607191, 9326328
Cholestasis progressive familial intrahepatic 1	Stimulate	36995996
Cholestasis progressive familial intrahepatic 2	Associate	19750581, 20800306, 21490445, 21766090, 22609309, 24115678, 24969679, 26019043, 27114171, 27239116, 27493120, 28150711, 28425419, 33868646, 33899189, 34794484, 38607191 View all (2 more)
Cognition Disorders	Associate	28784620
Delayed Emergence from Anesthesia	Associate	24081232
Dermatitis Atopic	Associate	31630127
Diabetes Mellitus Type 2	Associate	19669124, 20628598
Digestive System Diseases	Associate	18395098, 20447715
Drug Related Side Effects and Adverse Reactions	Associate	30817750
Epilepsy Absence	Associate	20583290
Fabry Disease	Associate	27825144
Fatty Liver Alcoholic	Stimulate	26019035
Fibrosis	Associate	21490445, 28860020, 29755014, 34428046
Gallbladder Diseases	Inhibit	33893772
Gallstones	Associate	20447715
Genetic Diseases Inborn	Associate	19228886, 20583290
Hepatitis C	Associate	22681771, 28292275
Hepatitis C Chronic	Associate	28292275, 28860020, 29755014
Hepatitis Viral Human	Associate	22947535
Hepatolenticular Degeneration	Associate	34117631, 35029214
Hypercholanemia Familial	Associate	30250217
Hyperglycemia	Associate	20858683
Hyperglycinemia Transient Neonatal	Associate	32646411
Hypertension Portal	Associate	20447715
Hypoglycemia	Associate	19669124
Immunologic Deficiency Syndromes	Associate	20447715
Infant Newborn Diseases	Associate	32203204
Intellectual Disability	Associate	30250217
Intrahepatic Cholestasis of Pregnancy	Associate	18176959, 18798335, 19750581, 20447715, 22681771, 23197899, 24366234, 25218883, 26640927, 26678486, 27239116, 28924228, 29973134, 30091450, 31538484 View all (7 more)
Jaundice	Associate	38607191
Jaundice Chronic Idiopathic	Associate	28923092
Leukemia Myeloid Acute	Associate	39270538
Lithiasis	Associate	31538484
Liver Cirrhosis	Associate	27543206, 28860020, 29755014
Liver Cirrhosis Biliary	Associate	25392597
Liver Diseases	Associate	12052824, 28784620, 31538484, 34348275, 34794484, 35894240, 37208429, 37949847
Liver Diseases	Stimulate	36995996
Liver Failure	Associate	20010382, 24335466, 28150711, 32634627, 35029214
Metabolic Syndrome	Associate	19669124
Microvillus inclusion disease	Associate	29218485
Necrosis	Associate	21490445
Neoplasms	Associate	18395098, 34428046
Neoplastic Syndromes Hereditary	Associate	37697751
Non alcoholic Fatty Liver Disease	Associate	26019035, 34428046
Obesity	Associate	19265796
Ototoxicity	Associate	20010382, 27759057
Prostatic Neoplasms Castration Resistant	Associate	27883295
Pruritus	Associate	30250217, 36995996
Pyruvate Dehydrogenase E3 Binding Protein Deficiency	Associate	32203204
Renal Insufficiency Chronic	Associate	26806836
Sclerosis	Associate	32203204
Signs and Symptoms Digestive	Associate	27825144
Taste Disorders	Associate	18395098, 20583290, 26640927, 27493120, 28425419, 36995996
Taste Disorders	Inhibit	28150711
Urinary Retention	Associate	12052824
Weight Loss	Associate	24081232

ABCB11 (ATP binding cassette subfamily B member 11)