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Abcb11 Gene Detail
Summary
  • Symbol
    Abcb11
  • Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 11
  • Synonyms
    ABC16, Bsep, Lith1, PFIC2, PGY4, sister of P-glycoprotein
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351619
    NCBI Gene: 27413
  • Gene Overview
    MyGene.info: ABCB11
Location & Maps
more
  • Sequence Map
    Chr2:69238282-69342614 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      104333 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ABCB11, ATP binding cassette subfamily B member 11
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCB11, ATP binding cassette subfamily B member 11
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC16, BRIC2, BSEP, PFIC2, PFIC-2, PGY4, SPGP
  • Links
    NCBI Gene ID: 8647
    neXtProt AC: NX_O95342

  • Chr Location
    2q24; chr2:168922802-169034890 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ABCB11 associations

Human Disease Mouse Models
       Cholestasis, Benign Recurrent Intrahepatic, 2; BRIC2   OMIM: 605479
Cholestasis, Progressive Familial Intrahepatic, 2; PFIC2   OMIM: 601847
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    1 images
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Targeted
    4
  • Transgenic
    3
  • Genomic Mutations
    1 involving Abcb11
  • Incidental Mutations
Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012983 VEGA Gene Model | MGI Sequence Detail 104333 C57BL/6J ±  kb
transcript OTTMUST00000031268 VEGA | MGI Sequence Detail 4893 Not Applicable  
polypeptide OTTMUSP00000013989 VEGA | MGI Sequence Detail 1321 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1007 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003549 bile salt export pump
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR011527 ABC transporter type 1, transmembrane domain
    IPR030278 Bile salt export pump
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 16
    Genomic 1
    cDNA 13
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:1341119
References
more
  • Summaries
    All 55
    Developmental Gene Expression 3
    Gene Ontology 9
    Phenotypes 18
  • Earliest
    J:54870 Lammert F, et al., Genetic mapping of Hepatocanalicular transporters establishes sister-p-glycoprotein (spgp) as a candidate for the major gallstone gene (Lith1). Hepatology. 1997;26:358A (Abstr.)
  • Latest
    J:227211 Zhang Y, et al., Maternal bile acid transporter deficiency promotes neonatal demise. Nat Commun. 2015;6:8186

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory