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Abcb4 Gene Detail
Summary
  • Symbol
    Abcb4
  • Name
    ATP-binding cassette, sub-family B member 4
  • Synonyms
    mdr-2, Mdr2, Pgy-2, Pgy2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97569
    NCBI Gene: 18670
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:8943717-9009231 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 3.43 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1895 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97569
 protein coding gene Chr5:8943614-9009231 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029288
 protein coding gene Chr5:5883483-5951153 (+)
A/J MGP_AJ_G0029251
 protein coding gene Chr5:5732045-5799934 (+)
AKR/J MGP_AKRJ_G0029200
 protein coding gene Chr5:5820857-5890478 (+)
BALB/cJ MGP_BALBcJ_G0029268
 protein coding gene Chr5:5913630-5979472 (+)
C3H/HeJ MGP_C3HHeJ_G0028988
 protein coding gene Chr5:6051780-6121172 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029718
 protein coding gene Chr5:6420496-6508779 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026961
 protein coding gene Chr5:5471718-5533045 (+)
CAST/EiJ MGP_CASTEiJ_G0028401
 protein coding gene Chr5:5869201-5945927 (+)
CBA/J MGP_CBAJ_G0028949
 protein coding gene Chr5:6561802-6635998 (+)
DBA/2J MGP_DBA2J_G0029103
 protein coding gene Chr5:5843244-5909062 (+)
FVB/NJ MGP_FVBNJ_G0029065
 protein coding gene Chr5:5595446-5664354 (+)
LP/J MGP_LPJ_G0029192
 protein coding gene Chr5:6021487-6098104 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029093
 protein coding gene Chr5:6550019-6623760 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029749
 protein coding gene Chr5:5818797-5895675 (+)
PWK/PhJ MGP_PWKPhJ_G0028123
 protein coding gene Chr5:5620829-5692908 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027956
 protein coding gene Chr5:6006426-6075550 (+)
WSB/EiJ MGP_WSBEiJ_G0028481
 protein coding gene Chr5:5846958-5916975 (+)



Homology
more
  • Human Ortholog
    ABCB4, ATP binding cassette subfamily B member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCB4, ATP binding cassette subfamily B member 4
  • 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; chr7:87365896-87480435 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with Abcb4 mouse models; 6 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
      
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    82 phenotypes from 2 alleles in 7 genetic backgrounds
    21 phenotypes from multigenic genotypes
    145 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    46
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    805
  • Tissues
    99
  • cDNA Data
    25
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042476 Ensembl Gene Model | MGI Sequence Detail 65515 C57BL/6J ±  kb
    transcript ENSMUST00000003717 Ensembl | MGI Sequence Detail 4079 Not Applicable  
    polypeptide ENSMUSP00000003717 Ensembl | MGI Sequence Detail 1276 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • 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 213
      Developmental Gene Expression 5
      Diseases 7
      Gene Ontology 13
      Phenotypes 145
    • 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:357391 Furukawa K, et al., Role of ABCB1 and ABCB4 in renal and biliary excretion of perfluorooctanoic acid in mice. Environ Health Prev Med. 2024;29:21
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory