Property Summary

NCBI Gene PubMed Count 108
Grant Count 160
R01 Count 42
Funding $33,223,503.92
PubMed Score 749.41
PubTator Score 496.18

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P21439 A0A2V7 A4D1D3 A4D1D4 A4D1D5 D6W5P3 D6W5P4 Q14813
Symbols GBD1
ICP3
MDR2
MDR3
PGY3
ABC21
MDR2/3
PFIC-3

Gene

Gene RIF (105)

PMID Text
26789121 Interaction of ABCB4 with EBP50 through its PDZ-like motif plays a critical role in the regulation of ABCB4 expression and stability at the canalicular plasma membrane.
26735860 Report highly specific expression of BSEP and MDR3 in hepatocellular carcinoma.
26474921 most severe phenotypes appreciated by the duration of transplant-free survival were caused by ABCB4 variants that were markedly retained in the endoplasmic reticulum and expressed in a homozygous status
26410236 A mutation of ABCB4 protein as a cause of liver disease
26324191 A mutant ABCB4 genotype is related to the clinical expression of cholestatic liver disease.
26256905 Case Report: liver fibrosis associated with MDR3 deficiency can be reversed by long-term treatment with UDCA, at least when there is residual expression of the protein.
26153658 There are varying effects of ABCB4 missense mutations but even a modest reduction in MDR3 activity may contribute or predispose to the onset of Cholestatic liver disease in the pediatric age.
25888430 The exome-sequencing of 3 family members identified 7 potential mutations: of these, rs58238559, a rare missense genetic variant in the ABCB4 gene was carried by all affected members; rs58238559 in ABCB4 is a rare missense variant with a significant effect on the development of atrial flutter or atrial fibrillation.
25882097 variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype.
25807286 several mutations in ABCB4 increase risk of liver diseases.
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AA Sequence

MDLEAAKNGTAWRPTSAEGDFELGISSKQKRKKTKTVKMIGVLTLFRYSDWQDKLFMSLGTIMAIAHGSG      1 - 70
LPLMMIVFGEMTDKFVDTAGNFSFPVNFSLSLLNPGKILEEEMTRYAYYYSGLGAGVLVAAYIQVSFWTL     71 - 140
AAGRQIRKIRQKFFHAILRQEIGWFDINDTTELNTRLTDDISKISEGIGDKVGMFFQAVATFFAGFIVGF    141 - 210
IRGWKLTLVIMAISPILGLSAAVWAKILSAFSDKELAAYAKAGAVAEEALGAIRTVIAFGGQNKELERYQ    211 - 280
KHLENAKEIGIKKAISANISMGIAFLLIYASYALAFWYGSTLVISKEYTIGNAMTVFFSILIGAFSVGQA    281 - 350
APCIDAFANARGAAYVIFDIIDNNPKIDSFSERGHKPDSIKGNLEFNDVHFSYPSRANVKILKGLNLKVQ    351 - 420
SGQTVALVGSSGCGKSTTVQLIQRLYDPDEGTINIDGQDIRNFNVNYLREIIGVVSQEPVLFSTTIAENI    421 - 490
CYGRGNVTMDEIKKAVKEANAYEFIMKLPQKFDTLVGERGAQLSGGQKQRIAIARALVRNPKILLLDEAT    491 - 560
SALDTESEAEVQAALDKAREGRTTIVIAHRLSTVRNADVIAGFEDGVIVEQGSHSELMKKEGVYFKLVNM    561 - 630
QTSGSQIQSEEFELNDEKAATRMAPNGWKSRLFRHSTQKNLKNSQMCQKSLDVETDGLEANVPPVSFLKV    631 - 700
LKLNKTEWPYFVVGTVCAIANGGLQPAFSVIFSEIIAIFGPGDDAVKQQKCNIFSLIFLFLGIISFFTFF    701 - 770
LQGFTFGKAGEILTRRLRSMAFKAMLRQDMSWFDDHKNSTGALSTRLATDAAQVQGATGTRLALIAQNIA    771 - 840
NLGTGIIISFIYGWQLTLLLLAVVPIIAVSGIVEMKLLAGNAKRDKKELEAAGKIATEAIENIRTVVSLT    841 - 910
QERKFESMYVEKLYGPYRNSVQKAHIYGITFSISQAFMYFSYAGCFRFGAYLIVNGHMRFRDVILVFSAI    911 - 980
VFGAVALGHASSFAPDYAKAKLSAAHLFMLFERQPLIDSYSEEGLKPDKFEGNITFNEVVFNYPTRANVP    981 - 1050
VLQGLSLEVKKGQTLALVGSSGCGKSTVVQLLERFYDPLAGTVFVDFGFQLLDGQEAKKLNVQWLRAQLG   1051 - 1120
IVSQEPILFDCSIAENIAYGDNSRVVSQDEIVSAAKAANIHPFIETLPHKYETRVGDKGTQLSGGQKQRI   1121 - 1190
AIARALIRQPQILLLDEATSALDTESEKVVQEALDKAREGRTCIVIAHRLSTIQNADLIVVFQNGRVKEH   1191 - 1260
GTHQQLLAQKGIYFSMVSVQAGTQNL                                               1261 - 1286
//

Text Mined References (114)

PMID Year Title
26789121 2016 A PDZ-Like Motif in the Biliary Transporter ABCB4 Interacts with the Scaffold Protein EBP50 and Regulates ABCB4 Cell Surface Expression.
26735860 2016 BSEP and MDR3: Useful Immunohistochemical Markers to Discriminate Hepatocellular Carcinomas From Intrahepatic Cholangiocarcinomas and Hepatoid Carcinomas.
26474921 2016 A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
26410236 2015 A letter on ABCB4 from Iceland: On the highway to liver disease.
26324191 2016 ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
26256905 Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3.
26153658 2016 Heterozygous ABCB4 mutations in children with cholestatic liver disease.
25888430 2015 Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
25882097 2015 Analysis of functional variants reveals new candidate genes associated with alexithymia.
25807286 2015 Large-scale whole-genome sequencing of the Icelandic population.
More...