Abcb4 ATP-binding cassette, sub-family B member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcb4provided by MGI
Official Full Name: ATP-binding cassette, sub-family B member 4provided by MGI
Primary source: MGI:MGI:97569
See related: Ensembl:ENSMUSG00000042476 AllianceGenome:MGI:97569
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mdr2; Pgy2; Pgy-2; mdr-2
Summary: Predicted to enable ATPase-coupled transmembrane transporter activity and phosphatidylcholine floppase activity. Involved in bile acid secretion and response to fenofibrate. Located in intercellular canaliculus and plasma membrane. Is expressed in alimentary system and liver. Used to study cholecystitis; cholestasis; hepatocellular carcinoma; intrahepatic cholestasis; and primary sclerosing cholangitis. Human ortholog(s) of this gene implicated in cholestasis (multiple) and liver cirrhosis (multiple). Orthologous to human ABCB4 (ATP binding cassette subfamily B member 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver adult (RPKM 22.1), liver E18 (RPKM 18.3) and 5 other tissues See more
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Genomic context

Location:: 5 A1; 5 3.43 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (8943614..9009226)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (8893614..8959226)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Insights of Cholestasis in MDR2 Knockout Murine Liver Organoids.
Title: Molecular Insights of Cholestasis in MDR2 Knockout Murine Liver Organoids.
Role of ABCB1 and ABCB4 in renal and biliary excretion of perfluorooctanoic acid in mice.
Title: Role of ABCB1 and ABCB4 in renal and biliary excretion of perfluorooctanoic acid in mice.
The inhibition of YAP Signaling Prevents Chronic Biliary Fibrosis in the Abcb4[-/-] Model by Modulation of Hepatic Stellate Cell and Bile Duct Epithelium Cell Pathophysiology.
Title: The inhibition of YAP Signaling Prevents Chronic Biliary Fibrosis in the Abcb4(-/-) Model by Modulation of Hepatic Stellate Cell and Bile Duct Epithelium Cell Pathophysiology.
Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
Title: Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
Cholangiopathy aggravation is caused by VDR ablation and alleviated by VDR-independent vitamin D signaling in ABCB4 knockout mice.
Title: Cholangiopathy aggravation is caused by VDR ablation and alleviated by VDR-independent vitamin D signaling in ABCB4 knockout mice.
The pro-oncogenic effect of the lncRNA H19 in the development of chronic inflammation-mediated hepatocellular carcinoma.
Title: The pro-oncogenic effect of the lncRNA H19 in the development of chronic inflammation-mediated hepatocellular carcinoma.
Administration of Human MSC-Derived Extracellular Vesicles for the Treatment of Primary Sclerosing Cholangitis: Preclinical Data in MDR2 Knockout Mice.
Title: Administration of Human MSC-Derived Extracellular Vesicles for the Treatment of Primary Sclerosing Cholangitis: Preclinical Data in MDR2 Knockout Mice.
Knockout of the Tachykinin Receptor 1 in the Mdr2(-/-) (Abcb4(-/-)) Mouse Model of Primary Sclerosing Cholangitis Reduces Biliary Damage and Liver Fibrosis.
Title: Knockout of the Tachykinin Receptor 1 in the Mdr2(-/-) (Abcb4(-/-)) Mouse Model of Primary Sclerosing Cholangitis Reduces Biliary Damage and Liver Fibrosis.
Cholangiocytes, but not hepatocytes, from stem cell factor (SCF) Mismatch Mdr2(-/-) mice have increased SCF expression and secretion. Inhibition of SCF in Mdr2(-/-) mice reduced (i) hepatic damage; (ii) mast cell migration; (iii) histamine and SCF serum levels.
Title: Downregulation of hepatic stem cell factor by Vivo-Morpholino treatment inhibits mast cell migration and decreases biliary damage/senescence and liver fibrosis in Mdr2(-/-) mice.
Taurohyodeoxycholate strongly enhances biliary phosphatidylcholine (PC) secretion in Abcb4+/+ mice. Taurohyodeoxycholate has no effect on biliary PC secretion in Abcb4-/- mice.
Title: Enhancing effect of taurohyodeoxycholate on ABCB4-mediated phospholipid efflux.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylcholine floppase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine floppase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine floppase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in bile acid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to bile acid	ISO Inferred from Sequence Orthology more info
involved_in cellular response to bile acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid translocation	IEA Inferred from Electronic Annotation more info
involved_in phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cholesterol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phospholipid translocation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phospholipid transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phospholipid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to fenofibrate	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in xenobiotic transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intercellular canaliculus	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: phosphatidylcholine translocator ABCB4

Names: ATP-binding cassette, sub-family B (MDR/TAP), member 4; P glycoprotein 2; P-glycoprotein 3; multidrug resistance protein 2; multidrug resistance protein 3

NP_032856.2

EC 7.6.2.1

XP_006503614.1

EC 7.6.2.1

XP_006503615.1

EC 7.6.2.1

XP_006503617.1

EC 7.6.2.1

XP_036020767.1

EC 7.6.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008830.2 → NP_032856.2 phosphatidylcholine translocator ABCB4

See identical proteins and their annotated locations for NP_032856.2

Status: VALIDATED

Source sequence(s)

AA239419, AK050345, AK144024, CB951185, CJ071650, CX204859

Consensus CDS

CCDS19086.1

UniProtKB/Swiss-Prot

B9EK77, P21440, Q6LCL9

Related

ENSMUSP00000003717.9, ENSMUST00000003717.13

Conserved Domains (3) summary

cd03249
Location:392 → 628

ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins

PTZ00265
Location:30 → 1269

PTZ00265; multidrug resistance protein (mdr1); Provisional

pfam00664
Location:58 → 342

ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

8943614..9009226

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503552.2 → XP_006503615.1 phosphatidylcholine translocator ABCB4 isoform X2

Conserved Domains (1) summary

PTZ00265
Location:1 → 1216

PTZ00265; multidrug resistance protein (mdr1); Provisional
XM_006503551.5 → XP_006503614.1 phosphatidylcholine translocator ABCB4 isoform X1

Conserved Domains (2) summary

cd03249
Location:392 → 628

ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins

PTZ00265
Location:30 → 1203

PTZ00265; multidrug resistance protein (mdr1); Provisional
XM_036164874.1 → XP_036020767.1 phosphatidylcholine translocator ABCB4 isoform X3

Conserved Domains (1) summary

PTZ00265
Location:14 → 1111

PTZ00265; multidrug resistance protein (mdr1); Provisional
XM_006503554.4 → XP_006503617.1 phosphatidylcholine translocator ABCB4 isoform X4

Conserved Domains (1) summary

PTZ00265
Location:37 → 1052

PTZ00265; multidrug resistance protein (mdr1); Provisional