Details for: ABCB4

Gene ID: 5244

Symbol: ABCB4

Ensembl ID: ENSG00000005471

Description: ATP binding cassette subfamily B member 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 25.4588
    Cell Significance Index: -3.9600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 17.2092
    Cell Significance Index: -4.3700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 10.1167
    Cell Significance Index: -4.1100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 9.1078
    Cell Significance Index: -4.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.4957
    Cell Significance Index: -4.3100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 3.1333
    Cell Significance Index: 52.7800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.3011
    Cell Significance Index: 18.8900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.1801
    Cell Significance Index: 61.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.1112
    Cell Significance Index: -4.3900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0899
    Cell Significance Index: 29.2100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.9801
    Cell Significance Index: 16.4900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8023
    Cell Significance Index: 159.2100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.6744
    Cell Significance Index: 2.5400
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.5314
    Cell Significance Index: 3.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4932
    Cell Significance Index: 93.8500
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 0.4897
    Cell Significance Index: 2.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4590
    Cell Significance Index: 35.2200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4253
    Cell Significance Index: 6.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3823
    Cell Significance Index: 37.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3117
    Cell Significance Index: 281.4700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2441
    Cell Significance Index: 168.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2411
    Cell Significance Index: 13.5300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.2164
    Cell Significance Index: 5.2800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1862
    Cell Significance Index: 30.2900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1476
    Cell Significance Index: 16.0600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1369
    Cell Significance Index: 3.5200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1198
    Cell Significance Index: 184.4800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1023
    Cell Significance Index: 1.5100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0917
    Cell Significance Index: 41.6300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0864
    Cell Significance Index: 1.3700
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.0720
    Cell Significance Index: 0.1900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0662
    Cell Significance Index: 4.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0513
    Cell Significance Index: 9.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0449
    Cell Significance Index: 61.1000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0387
    Cell Significance Index: 4.5600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0378
    Cell Significance Index: 4.8500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0363
    Cell Significance Index: 66.9300
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0359
    Cell Significance Index: 0.4700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0332
    Cell Significance Index: 0.4900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0326
    Cell Significance Index: 1.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0285
    Cell Significance Index: 0.8200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0228
    Cell Significance Index: 0.8000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0201
    Cell Significance Index: 0.3500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0190
    Cell Significance Index: 0.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0180
    Cell Significance Index: 3.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0180
    Cell Significance Index: 0.4500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0175
    Cell Significance Index: 0.5000
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.0089
    Cell Significance Index: 0.1300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0087
    Cell Significance Index: 0.5600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0084
    Cell Significance Index: 0.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0068
    Cell Significance Index: 0.3100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0018
    Cell Significance Index: 0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0014
    Cell Significance Index: 2.5600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0036
    Cell Significance Index: -2.6400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0050
    Cell Significance Index: -3.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0055
    Cell Significance Index: -3.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0058
    Cell Significance Index: -2.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0061
    Cell Significance Index: -4.6100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0062
    Cell Significance Index: -4.5100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0065
    Cell Significance Index: -4.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0067
    Cell Significance Index: -3.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0115
    Cell Significance Index: -1.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0128
    Cell Significance Index: -3.6800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0151
    Cell Significance Index: -0.9500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0170
    Cell Significance Index: -1.7700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0186
    Cell Significance Index: -2.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0189
    Cell Significance Index: -0.4100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0192
    Cell Significance Index: -4.0500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0211
    Cell Significance Index: -2.1600
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0221
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0237
    Cell Significance Index: -4.0500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0265
    Cell Significance Index: -3.6400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0285
    Cell Significance Index: -0.4300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0325
    Cell Significance Index: -3.7900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0339
    Cell Significance Index: -0.7100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0348
    Cell Significance Index: -2.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0353
    Cell Significance Index: -4.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0368
    Cell Significance Index: -1.1800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0388
    Cell Significance Index: -4.4500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0442
    Cell Significance Index: -0.6200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0455
    Cell Significance Index: -0.6800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0526
    Cell Significance Index: -2.7300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0539
    Cell Significance Index: -0.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0554
    Cell Significance Index: -1.1800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0573
    Cell Significance Index: -1.1500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0582
    Cell Significance Index: -3.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0601
    Cell Significance Index: -1.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0604
    Cell Significance Index: -4.5000
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.0660
    Cell Significance Index: -0.4800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0716
    Cell Significance Index: -3.3400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0717
    Cell Significance Index: -1.9200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0729
    Cell Significance Index: -1.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0753
    Cell Significance Index: -3.5400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0764
    Cell Significance Index: -3.3800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0768
    Cell Significance Index: -1.1000
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0807
    Cell Significance Index: -1.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0827
    Cell Significance Index: -4.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0842
    Cell Significance Index: -3.1900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0859
    Cell Significance Index: -3.0100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0883
    Cell Significance Index: -3.8400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The ABCB4 gene is a transmembrane transporter located in the apical plasma membrane of hepatocytes and intestinal epithelial cells. It is a member of the ABCB subfamily, which consists of proteins that transport a wide range of substrates, including phospholipids, cholesterol, and bile acids. The ABCB4 protein is characterized by its ability to pump phospholipids out of cells, thereby regulating lipid homeostasis and preventing the accumulation of toxic lipid species. The protein's structure consists of two transmembrane domains, which are connected by a cytoplasmic domain that interacts with regulatory proteins. **Pathways and Functions** The ABCB4 gene is involved in several key pathways, including: 1. **Lipid Homeostasis**: ABCB4 regulates the transport of phospholipids across cell membranes, maintaining lipid homeostasis and preventing the accumulation of toxic lipid species. 2. **Cholesterol Transport**: ABCB4 mediates the efflux of cholesterol from cells to the extracellular environment, regulating cholesterol transport and preventing the accumulation of toxic cholesterol species. 3. **Bile Acid Secretion**: ABCB4 plays a role in the secretion of bile acids from hepatocytes, which is essential for the digestion and absorption of dietary fats. 4. **Phospholipid Translocation**: ABCB4 regulates the translocation of phospholipids across cell membranes, which is essential for maintaining lipid homeostasis. **Clinical Significance** Mutations in the ABCB4 gene have been associated with several diseases, including: 1. **Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3)**: A rare genetic disorder characterized by progressive liver disease and cholestasis. 2. **Icterus Congenitus (ICP3)**: A rare genetic disorder characterized by severe jaundice and liver disease. 3. **Glycogen Storage Disease Type 1B (GDB1)**: A rare genetic disorder characterized by glycogen accumulation in the liver and kidneys. In addition to these diseases, mutations in the ABCB4 gene have also been associated with other conditions, including: 1. **Familial Cholestasis**: A group of rare genetic disorders characterized by cholestasis and liver disease. 2. **Bile Acid-Induced Liver Injury**: A condition characterized by liver damage caused by bile acid accumulation. Overall, the ABCB4 gene plays a critical role in regulating lipid homeostasis and preventing the accumulation of toxic lipid species. Mutations in the gene can lead to a range of diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2712483449

Symbol: MDR3_HUMAN

Name: N/A

UniProtKB Accession Codes:

P21439 A0A2V7 A4D1D3 A4D1D4 A4D1D5 D6W5P3 D6W5P4 Q14813

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChEBI 32 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 16 EMDB 4 Ensembl 4 ExpressionAtlas 1 GO 27 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 3 RefSeq 4 Rhea 8 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2906314

Title: Sequence of mdr3 cDNA encoding a human P-glycoprotein.

PubMed ID: 2906314

DOI: 10.1016/0378-1119(88)90057-1

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 7893760

Title: Characterization of the promoter region of the human MDR3 P-glycoprotein gene.

PubMed ID: 7893760

DOI: 10.1016/0167-4781(94)00214-n

PubMed ID: 2892668

Title: The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver.

PubMed ID: 2892668

DOI: 10.1002/j.1460-2075.1987.tb02653.x

PubMed ID: 2002063

Title: Structure of the human MDR3 gene and physical mapping of the human MDR locus.

PubMed ID: 2002063

DOI: 10.1016/s0021-9258(19)67788-4

PubMed ID: 7957936

Title: The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice.

PubMed ID: 7957936

DOI: 10.1016/0014-5793(94)01135-4

PubMed ID: 8898203

Title: MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine.

PubMed ID: 8898203

DOI: 10.1016/s0092-8674(00)81370-7

PubMed ID: 9366571

Title: Hepatic secretion of phospholipid vesicles in the mouse critically depends on mdr2 or MDR3 P-glycoprotein expression. Visualization by electron microscopy.

PubMed ID: 9366571

DOI: 10.1172/jci119799

PubMed ID: 9419367

Title: Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

PubMed ID: 9419367

DOI: 10.1073/pnas.95.1.282

PubMed ID: 15258199

Title: Bezafibrate stimulates canalicular localization of NBD-labeled PC in HepG2 cells by PPARalpha-mediated redistribution of ABCB4.

PubMed ID: 15258199

DOI: 10.1194/jlr.m400132-jlr200

PubMed ID: 17523162

Title: Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4.

PubMed ID: 17523162

DOI: 10.1002/hep.21591

PubMed ID: 19674157

Title: Receptor for activated C-kinase 1 regulates the cellular localization and function of ABCB4.

PubMed ID: 19674157

DOI: 10.1111/j.1872-034x.2009.00544.x

PubMed ID: 21820390

Title: Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity.

PubMed ID: 21820390

DOI: 10.1053/j.gastro.2011.07.042

PubMed ID: 23468132

Title: Bile salt-stimulated phospholipid efflux mediated by ABCB4 localized in nonraft membranes.

PubMed ID: 23468132

DOI: 10.1194/jlr.m032425

PubMed ID: 24122873

Title: Peroxisome proliferator-activated receptor alpha activates human multidrug resistance transporter 3/ATP-binding cassette protein subfamily B4 transcription and increases rat biliary phosphatidylcholine secretion.

PubMed ID: 24122873

DOI: 10.1002/hep.26894

PubMed ID: 24806754

Title: Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

PubMed ID: 24806754

DOI: 10.1002/hep.26970

PubMed ID: 31873305

Title: Structure of the human lipid exporter ABCB4 in a lipid environment.

PubMed ID: 31873305

DOI: 10.1038/s41594-019-0354-3

PubMed ID: 10767346

Title: Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

PubMed ID: 10767346

DOI: 10.1093/hmg/9.8.1209

PubMed ID: 11313315

Title: The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

PubMed ID: 11313315

DOI: 10.1053/gast.2001.23984

PubMed ID: 11313316

Title: MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

PubMed ID: 11313316

DOI: 10.1053/gast.2001.23947

PubMed ID: 12671900

Title: A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.

PubMed ID: 12671900

DOI: 10.1053/gast.2003.50144

PubMed ID: 12891548

Title: ABCB4 gene mutation-associated cholelithiasis in adults.

PubMed ID: 12891548

DOI: 10.1016/s0016-5085(03)00898-9

PubMed ID: 12746424

Title: ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.

PubMed ID: 12746424

DOI: 10.1136/jmg.40.5.e70

PubMed ID: 15077010

Title: 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

DOI: 10.1097/00008571-200402000-00003

PubMed ID: 16763017

Title: Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).

PubMed ID: 16763017

DOI: 10.1124/dmd.105.008854

PubMed ID: 17726488

Title: Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

PubMed ID: 17726488

DOI: 10.1038/sj.ejhg.5201908

PubMed ID: 17264802

Title: Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.

PubMed ID: 17264802

DOI: 10.1097/01.fpc.0000230418.28091.76

PubMed ID: 19261551

Title: A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

PubMed ID: 19261551

DOI: 10.1016/j.dld.2008.12.101

PubMed ID: 21119540

Title: Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

PubMed ID: 21119540

DOI: 10.1097/mpg.0b013e3181f50363

PubMed ID: 22331132

Title: Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

PubMed ID: 22331132

DOI: 10.1007/s00428-012-1202-6

PubMed ID: 23533021

Title: Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

PubMed ID: 23533021

DOI: 10.1002/hep.26424

PubMed ID: 24045840

Title: Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

PubMed ID: 24045840

DOI: 10.1038/ejhg.2013.214

PubMed ID: 24723470

Title: Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

PubMed ID: 24723470

DOI: 10.1002/hep.27170

PubMed ID: 24594635

Title: Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

PubMed ID: 24594635

DOI: 10.1136/gutjnl-2014-306896

PubMed ID: 28012258

Title: Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

PubMed ID: 28012258

DOI: 10.1002/hep.28929

PubMed ID: 28587926

Title: Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

PubMed ID: 28587926

DOI: 10.1016/j.biocel.2017.05.028

Sequence Information:

  • Length: 1286
  • Mass: 141523
  • Checksum: 9A9066F2292F2CCF
  • Sequence:
    • MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG 
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY 
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD 
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA 
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS 
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA 
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ 
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV 
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR 
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI 
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS 
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA 
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG 
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA 
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI 
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA 
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY 
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ 
LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG 
DNSRVVSQDE IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP 
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH 
GTHQQLLAQK GIYFSMVSVQ AGTQNL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.