ABCB11 - ATP binding cassette subfamily B member 11 Gene

Also Known as BSEP; PGY4; SPGP; ABC16; BRIC2; PFIC2; PFIC-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8647

About ABCB11

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:168,915,390-169,031,324 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 217 orthologues, 10 paralogues and is associated with 6 phenotypes. Biased expression in liver (RPKM 10.4), testis (RPKM 2.0) and 1 other tissue.

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]

ABCB11 Products (1)

mRNA	Protein	Name
NM_003742.4	NP_003733.2	bile salt export pump

ABCB11 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
1321 a.a.

Protein Preferred Names	Protein Names
bile salt export pump	ABC member 16, MDR/TAP subfamily

ABCB11 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABCB11	O95342	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	ABCB11	O95342	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	ABCB11	O95342	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cholestasis, Progressive Familial Intrahepatic, 2	PFIC2 Cholestasis, Progressive Familial Intrahepatic 2 Progressive Familial Intrahepatic Cholestasis Type 2 Progressive Familial Intrahepatic Cholestasis 2 Bsep Deficiency Recurrent Familial Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis 2 Severe Abcb11 Deficiency Bric2 Cholestasis, Benign Recurrent Intrahepatic 2 Mild Abcb11 Deficiency Cholestasis, Intrahepatic, Familial, Progressive, Type 2
Cholestasis, Benign Recurrent Intrahepatic, 2	BRIC2 Benign Recurrent Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis Type 2 Bric Type 2 Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 Cholestasis, Benign Recurrent Intrahepatic 2
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Cholestasis, Intrahepatic, Of Pregnancy 3	ICP3 Cholestasis, Intrahepatic, Of Pregnancy, 3 Intrahepatic Cholestasis Of Pregnancy 3 Pregnancy Related Cholestasis 3 Cholestasis Of Pregnancy, Intrahepatic 3 Cholestasis, Intrahepatic, Of Pregnancy, Type 3
Cholestasis, Progressive Familial Intrahepatic, 3	PFIC3 Cholestasis, Progressive Familial Intrahepatic 3 Mdr3 Deficiency Progressive Familial Intrahepatic Cholestasis Type 3 Progressive Familial Intrahepatic Cholestasis 3 Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Cholestasis, Benign Recurrent Intrahepatic, 1	Benign Recurrent Intrahepatic Cholestasis BRIC1 Summerskill Syndrome Bric Summerskill-Walshe-Tygstrup Syndrome Cholestasis, Benign Recurrent Intrahepatic Benign Recurrent Intrahepatic Cholestasis 1 Benign Recurrent Intrahepatic Cholestasis Type 1 Bric Type 1 Low Gamma-Gt Familial Intrahepatic Cholestasis Recurrent Familial Intrahepatic Cholestasis Cholestasis, Benign Recurrent Intrahepatic 1 Mild Atp8b1 Deficiency Recurrent Familial Intrahepatic Cholestasis 1 Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Bric - [Benign Recurrent Intrahepatic Cholestasis]
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis
Familial Intrahepatic Cholestasis
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Colchicine Resistance	Colchicine Sensitivity Clcs
Atp8b1 Deficiency	Fic1 Deficiency Progressive Intrahepatic Cholestasis
Cholangitis	Acute Cholangiolitis Ascending Cholangitis Cholangiolitis Cholangitis Nos Chronic Cholangiolitis Hepatic Duct Inflammation Acute Cholangitis Bile Duct Inflammation
Cholestasis, Progressive Familial Intrahepatic, 4	PFIC4 Progressive Familial Intrahepatic Cholestasis 4 Cholestasis, Progressive Familial Intrahepatic 4 Tjp2 Deficit Progressive Familial Intrahepatic Cholestasis-4 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Progressive Familial Intrahepatic Cholestasis Type 4 Cholestasis, Intrahepatic, Familial, Progressive, Type 4 Bile Acid Synthesis Defect, Congenital, 1
Biliary Atresia	Congenital Biliary Atresia Isolated Biliary Atresia Isolated Atresia Of Bile Ducts Non-Syndromic Biliary Atresia Atresia Of Bile Duct Biliary Atresia, Congenital Atresia Of Bile Ducts Bile Duct Atresia Congenital Bile Duct Atresia Ba - [Biliary Atresia] Impervious Bile Duct Atresia Of Common Duct Biliary Duct Atresia Bile Ductal Atresia Cystic Duct Atresia
Pericholangitis
Bile Duct Disease	Bile Duct Diseases Bile Duct Disorder Disorder Of Bile Duct
Biliary Tract Disease	Biliary Tract Diseases Biliary Tract Abnormality
Glanders	Farcy Pipes Infection Due To Pseudomonas Mallei Burkholderia Mallei Burkholderia Mallei Infection Equina Equine Glanders Farcy Farcy Buds Farcy Cords Infection Due To Actinobacillus Mallei Infection Due To Malleomyces Mallei Maliasmus Malleus Farce Actinobacillosis Actinobacillus Infection
Cholestasis, Progressive Familial Intrahepatic, 5	PFIC5 Progressive Familial Intrahepatic Cholestasis 5 Nr1h4 Deficiency Progressive Familial Intrahepatic Cholestasis Type 5 Cholestasis, Intrahepatic, Familial, Progressive, Type 5
Dubin-Johnson Syndrome	DJS Chronic Idiopathic Jaundice Jaundice, Chronic Idiopathic Hyperbilirubinemia, Dubin-Johnson Type Hyperbilirubinemia Ii Hyperbilirubinemia Type 2 Conjugated Hyperbilirubinemia Dubin-Sprinz Disease Sprinz-Nelson Syndrome Hblrdj Dubin Johnson Syndrome Hyperbilirubinemia 2 Black Liver-Jaundice Syndrome Chronic Idiopathic Jaundice With Pigmented Liver Dubin-Sprinz Syndrome Hyperbilirubinaemia Type 2 Djs - [Dubin-Johnson Syndrome]
Extrahepatic Cholestasis	Cholestasis, Extrahepatic Extrahepatic Biliary Stasis Extrahepatic Obstructive Biliary Disease Cholestasis Extrahepatic
Bile Acid Synthesis Defect, Congenital, 2	Cholestasis With Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency CBAS2 Congenital Bile Acid Synthesis Defect 2 Congenital Bile Acid Synthesis Defect Type 2 Congenital Bile Acid Synthesis Defect, Type 2 Basd2 Bile Acid Synthesis Defect, Congenital, Type 2
Sclerosing Cholangitis	Fibrosing Cholangitis Cholangitis, Sclerosing Primary Sclerosing Cholangitis
Contagious Pustular Dermatitis	Ecthyma, Contagious Orf Ecthyma Contagiosum Scabby Mouth Sheep Pox Thistle Disease Contagious Pustular Dermatosis
Alagille Syndrome 1	Alagille Syndrome Arteriohepatic Dysplasia Alagille-Watson Syndrome Cholestasis With Peripheral Pulmonary Stenosis Hepatic Ductular Hypoplasia Alagille Syndrome Due To A Jag1 Point Mutation ALGS1 Algs Aws Syndromic Bile Duct Paucity Cardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndrome Paucity Of Interlobular Bile Ducts Watson-Miller Syndrome Alagille Syndrome Due To 20p12 Microdeletion Ahd Hepatic Ductular Hypoplasia, Syndromatic Watson Alagille Syndrome Alagille'S Syndrome Alagille Syndrome Due To Del(20)(P12) Alagille Syndrome Due To Monosomy 20p12 Alagille-Watson Syndrome Due To Monosomy 20p12 Arteriohepatic Dysplasia Due To Monosomy 20p12 Syndromic Bile Duct Paucity Due To Monosomy 20p12 Alagille-Watson Syndrome Due To A Jag1 Point Mutation Arteriohepatic Dysplasia Due To A Jag1 Point Mutation Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation Alagille Syndrome, Type 1
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Congenital Bile Acid Synthesis Defect	3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Cba Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency Basd Bile Acid Synthesis Defect, Congenital, 1
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Citrullinemia, Type Ii, Adult-Onset	Citrin Deficiency CTLN2 Citrullinemia Type Ii Adult-Onset Citrullinemia Type 2 Adult-Onset Type Ii Citrullinemia Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrin Deficiency Adult-Onset Citrullinemia Type Ii Citrullinemia Type 2 Citrullinemia 2 Citrullinemia, Type Ii
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Bile Duct Cysts	Choledochal Cyst Choledochal Cysts Choledochocele Biliary Cyst Congenital Choledochal Cyst Bile Duct Cyst Congenital Cystic Dilatation Of The Biliary Tract Congenital Bile Duct Dilatation
Common Bile Duct Disease	Common Bile Duct Diseases
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Obstructive Jaundice	Jaundice, Obstructive Cholestatic Jaundice Cholestatic Jaundice Syndrome Obstructive Hyperbilirubinemia Jaundice Obstructive Jaundice Cholestatic
Microvillus Inclusion Disease	Congenital Microvillous Atrophy Intractable Diarrhea Of Infancy Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities Davidson Disease Microvillous Inclusion Disease Congenital Microvillus Atrophy Mvid Diarrhea 2 With Microvillus Atrophy Mvd Congenital Familial Protracted Diarrhea Davidson'S Disease Familial Enteropathy, Microvillus Microvillus Atrophy, Congenital Congenital Enteropathy Familial Protracted Enteropathy Microvillous Atrophy Microvillus Atrophy With Diarrhea 2 Idi
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiency Otc Deficiency Ornithine Carbamoyltransferase Deficiency Disease OTCD Deficiency Of Citrulline Phosphorylase Oct Deficiency Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency Deficiency, Ornithine Carbamoyltransferase
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Choledocholithiasis
Drug-Induced Hepatitis	Drug-Induced Chronic Hepatitis Chemical And Drug Induced Liver Injury, Chronic Hepatitis, Drug-Induced Hepatitis, Chronic, Drug-Induced
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome Crigler-Najjar Syndrome Type 1 Bilirubin Udp Glucuronyl Transferase Deficiency Crigler Najjar Syndrome Crigler Najjar Syndrome, Type 1 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Bilirubin-Ugt Deficiency Hyperbilirubinemia, Crigler-Najjar Type I Hblrcn1 Familial Nonhemolytic Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemia Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 Bilirubin-Ugt Deficiency Type 1 Crigler-Najjar Syndrome 1 CN1 Cn-I Crigler-Najjar Syndrome Type I Hereditary Unconjugated Hyperbilirubinaemia Ugt Deficiency Bilirubin Glucuronosyltransferase Deficiency Crigler-Najjar Disease Or Syndrome Deficiency Of Glucuronosyltransferase Glucuronyl Transferase Deficiency Glucuronyltransferase Deficiency Udp Glucuronyl Transferase Deficiency Cns - [Crigler-Najjar Syndrome] Congenital Familial Nonhemolytic Jaundice
Gallbladder Disease	Gallbladder Diseases Gall Bladder Gall Bladder Diseases Abnormal Gallbladder Function

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00050	ABCB11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-D3304	Cholyl-L-lysine fluorescein disodium		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ABCB11	RGD	RGD:619930
Macaca mulatta	ABCB11	VGNC	VGNC:81339
Canis familiaris	ABCB11	VGNC	VGNC:37433
Felis catus	ABCB11	VGNC	VGNC:80126
Bos taurus	ABCB11	VGNC	VGNC:25463
Mus musculus	ABCB11	MGD	MGI:1351619
Others	ABCB11	NCBI