ABCB4 - ATP binding cassette subfamily B member 4 Gene

Homo sapiens

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

Gene ID: 5244 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00051	ABCB4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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