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Abcg5 Gene Detail
Summary
  • Symbol
    Abcg5
  • Name
    ATP-binding cassette, sub-family G (WHITE), member 5
  • Synonyms
    cmp, Sterolin-1, tac, trac
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351659
    NCBI Gene: 27409
  • Gene Overview
    MyGene.info: ABCG5
Location & Maps
more
  • Sequence Map
    Chr17:84658234-84683011 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24778 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 55.02 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    ABCG5, ATP binding cassette subfamily G member 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCG5, ATP binding cassette subfamily G member 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    STSL
  • Links
    NCBI Gene ID: 64240
    neXtProt AC: NX_Q9H222

  • Chr Location
    2p21; chr2:43806155-43838865 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 31909
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ABCG5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Abcg5 mouse models; 1 with human ABCG5 associations

Human Disease Mouse Models
       Sitosterolemia   OMIM: 210250 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 2 alleles in 3 genetic backgrounds
    22 phenotypes from multigenic genotypes
    29 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
    9
  • Spontaneous
    1
  • Targeted
    5
  • Transgenic
    3
  • Genomic Mutations
    1 involving Abcg5
  • Incidental Mutations
Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death.
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 OTTMUSG00000036704 VEGA Gene Model | MGI Sequence Detail 24778 C57BL/6J ±  kb
transcript OTTMUST00000094038 VEGA | MGI Sequence Detail 2351 Not Applicable  
polypeptide OTTMUSP00000052239 VEGA | MGI Sequence Detail 652 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    301 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000003572 ATP-binding cassette sub-family G member 5
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR013525 ABC-2 type transporter
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 16
    cDNA 16

    Microarray probesets 3
Other
Accession IDs
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MGI:2147047, MGI:2156894
References
more
  • Summaries
    All 55
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 6
    Phenotypes 29
  • Earliest
    J:72524 Lu K, et al., Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001 Aug;69(2):278-90
  • Latest
    J:215443 Wang J, et al., Relative Roles of ABCG5/ABCG8 in Liver and Intestine. J Lipid Res. 2014 Nov 6;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory