Property Summary

NCBI Gene PubMed Count 111
Grant Count 227
R01 Count 70
Funding $36,972,358.08
PubMed Score 639.87
PubTator Score 445.11

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
posterior fossa group A ependymoma 1.400 0.000
ulcerative colitis -1.200 0.003

Synonym

Accession O95342 Q53TL2 Q9UNB2
Symbols BSEP
PGY4
SPGP
ABC16
BRIC2
PFIC2
PFIC-2

Gene

Gene RIF (109)

PMID Text
27050426 GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year
26735860 Report highly specific expression of BSEP and MDR3 in hepatocellular carcinoma.
26019035 Liver nuclear receptors, FXR and SHP, and bile acid transporters, NTCP and BSEP, are associated with the progression of NAFLD.
25771912 Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders.
25735837 Similar molecular features between MRP4 and BSEP inhibitors may partially explain why various drugs have affinity for both transporters.
25713208 ABCB11 444A had slightly reduced transport activity.
25661339 The aim of this study was the evaluation of some single nucleotide polymorphisms of genes (ABCB1, SLC28A2/3, SLC29A1) involved in telaprevir (TLV) and ribavirin transport and their correlation with plasma TLV drug exposure at 1 month of therapy.
25392597 BSEP rs473351 was closely associated with the susceptibility of primary biliary cirrhosis and resistance to ursodeoxycholic acid treatment.
25378077 In malignant tumours in the liver, BSEP marking was 100% specific and 90% sensitive for hepatocellular carcinoma.
25332267 Variants of ABCB11 were not associated with bosentan-induced liver injury.
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AA Sequence

MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAF      1 - 70
LHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIK     71 - 140
FASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKIN    141 - 210
DAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVV    211 - 280
ADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLD    281 - 350
EGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEI    351 - 420
EFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLN    421 - 490
IQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMS    491 - 560
GGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAADTIIGFE    561 - 630
HGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSK    631 - 700
SQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTP    701 - 770
LYAFLFSQILGTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAML    771 - 840
GQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPF    841 - 910
LALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANI    911 - 980
YGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAAR    981 - 1050
FFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKS   1051 - 1120
TSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIA   1121 - 1190
AAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVA   1191 - 1260
LDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS            1261 - 1321
//

Text Mined References (114)

PMID Year Title
27050426 2016 The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
26735860 2016 BSEP and MDR3: Useful Immunohistochemical Markers to Discriminate Hepatocellular Carcinomas From Intrahepatic Cholangiocarcinomas and Hepatoid Carcinomas.
26019035 The nuclear receptor FXR, but not LXR, up-regulates bile acid transporter expression in non-alcoholic fatty liver disease.
25771912 2015 Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
25735837 2015 Toward predicting drug-induced liver injury: parallel computational approaches to identify multidrug resistance protein 4 and bile salt export pump inhibitors.
25713208 2015 No contribution of the ABCB11 p.444A polymorphism in Japanese patients with drug-induced cholestasis.
25661339 2015 ABCB11 and ABCB1 gene polymorphisms impact on telaprevir pharmacokinetic at one month of therapy.
25392597 2014 The association between bile salt export pump single-nucleotide polymorphisms and primary biliary cirrhosis susceptibility and ursodeoxycholic acid response.
25378077 2015 Bile salt export pump: a sensitive and specific immunohistochemical marker of hepatocellular carcinoma.
25332267 Genetic susceptibility to hepatoxicity due to bosentan treatment in pulmonary hypertension.
More...