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Abcb4 Gene Detail
Summary
  • Symbol
    Abcb4
  • Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 4
  • Synonyms
    mdr-2, Mdr2, Pgy2, Pgy-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97569
    NCBI Gene: 18670
  • Gene Overview
    MyGene.info: ABCB4
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome 5, 3.43 cM
  • Mapping Data
    1 experiment
  • Sequence Tag
Homology
more
  • Human Ortholog
    ABCB4, ATP binding cassette subfamily B member 4
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ABCB4, ATP binding cassette subfamily B member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
  • Links
    NCBI Gene ID: 5244
    neXtProt AC: NX_P21439
    UniProt: P21439

  • Chr Location
    7q21.12; chr7:87399461-87475864 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    5 with Abcb4 mouse models; 2 with human ABCB4 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 2 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 1 allele in 6 genetic backgrounds
    20 phenotypes from multigenic genotypes
    73 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000054368 VEGA Gene Model | MGI Sequence Detail 65515 C57BL/6J ±  kb
    transcript OTTMUST00000134885 VEGA | MGI Sequence Detail 4079 Not Applicable  
    polypeptide OTTMUSP00000071491 VEGA | MGI Sequence Detail 1276 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      932 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 38
      Genomic 5
      cDNA 32
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13284, MGD-MRK-13287
    References
    more
    • Summaries
      All 133
      Developmental Gene Expression 5
      Diseases 7
      Gene Ontology 10
      Phenotypes 73
    • Earliest
      J:8447 Gros P, et al., Mammalian multidrug resistance gene: complete cDNA sequence indicates strong homology to bacterial transport proteins. Cell. 1986 Nov 7;47(3):371-80
    • Latest
      J:263853 Pacella I, et al., Fatty acid metabolism complements glycolysis in the selective regulatory T cell expansion during tumor growth. Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6546-E6555

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory