1. Gene
  2. ABCB4 - ATP binding cassette subfamily B member 4 Gene

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

ABCB4 Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (58 - 347)

ABC_tran

ABC_tran: ABC transporter (412 - 561)

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (712 - 987)

ABC_tran

ABC_tran: ABC transporter (1052 - 1210)

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  • 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

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

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