ABCB4 - ATP binding cassette subfamily B member 4 Gene

Also Known as GBD1; ICP3; MDR2; MDR3; PGY3; ABC21; MDR2/3; PFIC-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5244

About ABCB4

Cytogenetic location: 7q21.12 Genomic coordinates (GRCh38): 7:87,365,896-87,476,027 (from NCBI)

This gene has 12 transcripts (splice variants), 189 orthologues, 10 paralogues and is associated with 6 phenotypes. Biased expression in liver (RPKM 23.8), adrenal (RPKM 3.1) and 3 other tissues.

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 as well as antigen presentation. This gene encodes a full transporter and member of the P-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of Phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]

ABCB4 Products (3)

mRNA	Protein	Name
NM_000443.4	NP_000434.1	phosphatidylcholine translocator ABCB4 isoform A
NM_018849.3	NP_061337.1	phosphatidylcholine translocator ABCB4 isoform B
NM_018850.3	NP_061338.1	phosphatidylcholine translocator ABCB4 isoform C

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	17523162	GOA
enables ATPase-coupled transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	8898203	GOA
NOT enables ceramide floppase activity	IDA IDA: Inferred from direct assay	8898203	GOA
enables phosphatidylcholine floppase activity	IDA IDA: Inferred from direct assay	8898203	GOA
enables phosphatidylcholine floppase activity	IMP IMP: Inferred from mutant phenotype	24045840	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19674157	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to bile acid	IDA IDA: Inferred from direct assay	17523162	GOA
NOT involved in ceramide translocation	IDA IDA: Inferred from direct assay	8898203	GOA
involved in lipid homeostasis	IDA IDA: Inferred from direct assay	17523162	GOA
involved in phospholipid translocation	IDA IDA: Inferred from direct assay	8898203	GOA
involved in phospholipid translocation	IMP IMP: Inferred from mutant phenotype	24806754	GOA
involved in positive regulation of cholesterol transport	IDA IDA: Inferred from direct assay	17523162	GOA
involved in positive regulation of cholesterol transport	IMP IMP: Inferred from mutant phenotype	24045840	GOA
involved in positive regulation of phospholipid translocation	IDA IDA: Inferred from direct assay	17523162	GOA
involved in positive regulation of phospholipid transport	IDA IDA: Inferred from direct assay	8898203	GOA
involved in positive regulation of phospholipid transport	IMP IMP: Inferred from mutant phenotype	24045840	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	8898203	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24045840	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24045840	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCB4 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
200
400
600
800
1000
1200
1286 a.a.

Protein Preferred Names	Protein Names
phosphatidylcholine translocator ABCB4	ATP-binding cassette sub-family B member 4

ABCB4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811289	ABCB4 Antibody	WB, ICC/IF	Human, Mouse

Related Diseases

Diseases	Alias
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
Gallbladder Disease 1	Gallstones GBD1 Lpac Low Phospholipid-Associated Cholelithiasis Cholecystitis Cholelithiasis Low Phospholipid Associated Cholelithiasis Cholelithiasis, Low Phospholipid-Associated Abcb4-Related Cholelithiasis Gallbladder Disease, Type 1 Cholecystolithiasis
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
Cholecystitis	Acute Cholecystitis Chronic Cholecystitis Acalculous Cholecystitis Acute And Chronic Cholecystitis Acute On Chronic Cholecystitis Gallstone Cholecystitis Cholecystitis, Acute Calculus Of Gallbladder With Cholecystitis Gallbladder Inflammation Acute Cholecystitis Infection Acute Acalculous Cholecystitis Chronic Acalculous Cholecystitis Nonfunctioning Gallbladder
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
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]
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]
Cholelithiasis
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
Cholangitis	Acute Cholangiolitis Ascending Cholangitis Cholangiolitis Cholangitis Nos Chronic Cholangiolitis Hepatic Duct Inflammation Acute Cholangitis Bile Duct Inflammation
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
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
Choledocholithiasis
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
Gallbladder Disease	Gallbladder Diseases Gall Bladder Gall Bladder Diseases Abnormal Gallbladder Function
Pericholangitis
Chronic Cholangitis
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
Prolymphocytic Leukemia	Pll Prolymphocytic Leukaemia Leukemia Prolymphocytic Leukemia, Prolymphocytic
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
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
Suppurative Cholangitis
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
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
Sclerosing Cholangitis	Fibrosing Cholangitis Cholangitis, Sclerosing Primary Sclerosing Cholangitis
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
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
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
Bile Duct Disease	Bile Duct Diseases Bile Duct Disorder Disorder Of Bile Duct
Extrahepatic Cholestasis	Cholestasis, Extrahepatic Extrahepatic Biliary Stasis Extrahepatic Obstructive Biliary Disease Cholestasis Extrahepatic
Caroli Disease	Caroli Disease Isolated Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts Cystic Dilatation Of The Intrahepatic Biliary Tree Caroli Syndrome Carolis Disease
Biliary Tract Disease	Biliary Tract Diseases Biliary Tract Abnormality
Acute Cholangitis
Ascending Cholangitis
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]
Cholecystolithiasis
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
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Tinea Unguium	Dermatophytosis Of Nail Onychomycosis Due To Dermatophyte Cellulitis And Abscess Cellulitis And Abscess Of Buttock Cellulitis And Abscess Of Face Cellulitis And Abscess Of Finger Cellulitis And Abscess Of Finger And Toe Cellulitis And Abscess Of Gluteal Region Cellulitis And Abscess Of Trunk Cellulitis And Abscess Of Upper Arm And Forearm Dermatophytic Onychia Dermatophytic Onychomycosis Onychomycosis Ringworm Of Nails Tinea Of Nail
Autoimmune Cholangitis	Autoimmune Cholangiopathy
Hepatic Vascular Disease	Vascular Disorder Of Liver
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell

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 (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-183032	ABC transporter modulator-1	Activator	96.30%	Unkown
HY-183033	ABC transporter modulator-2	Activator	96.89%	Unkown
HY-183034	ABC transporter modulator-3	Activator	97.0%	Unkown
HY-183035	ABC transporter modulator-4	Modulator	/	Unkown
HY-183036	ABC transporter modulator-5	Modulator	/	Unkown
HY-RS00051	ABCB4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21466	Abcb4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27984	Abcb4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCB4	VGNC	VGNC:108142
Canis familiaris	ABCB4	VGNC	VGNC:37434
Bos taurus	ABCB4	VGNC	VGNC:53628
Rattus norvegicus	ABCB4	RGD	RGD:620248
Mus musculus	ABCB4	MGD	MGI:97569
Others	ABCB4	NCBI