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Abcg5 Gene Detail
Summary
  • Symbol
    Abcg5
  • Name
    ATP binding cassette subfamily G member 5
  • Synonyms
    cmp, Sterolin-1, tac, trac
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351659
    NCBI Gene: 27409
  • Alliance
  • Transcription Start Sites
    4 TSS
  • Candidate for QTL
    5 QTL
Location &
Maps
more
  • Sequence Map
    Chr17:84965662-84990439 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 55.02 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    913 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351659
protein coding gene Chr17:84965602-84990439 (-)
129S1/SvImJ ENSMUSG00200023496
protein coding gene Chr17:80366089-80391329 (-)
A/J ENSMUSG00195028586
protein coding gene Chr17:81739476-81764729 (-)
AKR/J ENSMUSG00220013567
protein coding gene Chr17:80697098-80722347 (-)
BALB/cJ ENSMUSG00180024113
protein coding gene Chr17:81413941-81439207 (-)
C3H/HeJ ENSMUSG00175006540
protein coding gene Chr17:80677799-80703051 (-)
C57BL/6NJ ENSMUSG00215009481
protein coding gene Chr17:80407414-80432682 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021925
protein coding gene Chr17:80252603-80276514 (-)
CAST/EiJ ENSTCUG00005011613
protein coding gene Chr17:81242555-81267887 (-)
CBA/J ENSMUSG00210019671
protein coding gene Chr17:80536513-80561763 (-)
DBA/2J ENSMUSG00185019702
protein coding gene Chr17:83355908-83381111 (-)
FVB/NJ ENSMUSG00205006034
protein coding gene Chr17:81173783-81198964 (-)
JF1/MsJ ENSUMUG00000010759
protein coding gene Chr17:83088710-83113898 (-)
LP/J ENSMUSG00230008669
protein coding gene Chr17:84384524-84409770 (-)
NOD/ShiLtJ ENSMUSG00190009551
protein coding gene Chr17:80441459-80466640 (-)
NZO/HlLtJ ENSMUSG00225030275
protein coding gene Chr17:86643807-86669067 (-)
PWK/PhJ ENSLUMG00010005367
protein coding gene Chr17:80303458-80327875 (-)
SPRET/EiJ ENSMSPG00010008581
protein coding gene Chr17:80874429-80898897 (-)
WSB/EiJ ENSIUOG00005020744
protein coding gene Chr17:81357603-81382789 (-)



Homology
more
  • Human Ortholog
    ABCG5, ATP binding cassette subfamily G member 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCG5, ATP binding cassette subfamily G member 5
  • Synonyms
    STSL, STSL2
  • Links
    NCBI Gene ID: 64240
    UniProt: Q9H222

  • Chr Location
    2p21; chr2:43806211-43839231 (-)  GRCh38

Human Diseases
more
  • Diseases
    3 with human ABCG5 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 3 alleles in 4 genetic backgrounds
    12 phenotypes from multigenic genotypes
    36 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.
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
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
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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
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040505 Ensembl Gene Model | MGI Sequence Detail 24778 C57BL/6J ±  kb
    transcript ENSMUST00000066175 Ensembl | MGI Sequence Detail 2351 Not Applicable  
    polypeptide ENSMUSP00000069495 Ensembl | MGI Sequence Detail 652 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2147047, MGI:2156894
    References
    more
    • Summaries
      All 116
      Developmental Gene Expression 4
      Gene Ontology 11
      Phenotypes 36
    • 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:373839 Anspach GB, et al., ABCG5 ABCG8-independent mechanisms fail to maintain sterol balance in mice fed a high cholesterol diet. J Lipid Res. 2025 Sep 16;:100902

    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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    last database update
    09/15/2026
    MGI 6.29
    The Jackson Laboratory