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Abcg8 Gene Detail
Summary
  • Symbol
    Abcg8
  • Name
    ATP binding cassette subfamily G member 8
  • Synonyms
    1300003C16Rik, Sterolin-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914720
    NCBI Gene: 67470
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:84983730-85007761 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 55.02 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    906 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914720
 protein coding gene Chr17:84983730-85007761 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024082
 protein coding gene Chr17:87864033-87881178 (+)
A/J MGP_AJ_G0024041
 protein coding gene Chr17:85071812-85089878 (+)
AKR/J MGP_AKRJ_G0024010
 protein coding gene Chr17:86464188-86482917 (+)
BALB/cJ MGP_BALBcJ_G0024042
 protein coding gene Chr17:84923140-84941025 (+)
C3H/HeJ MGP_C3HHeJ_G0023807
 protein coding gene Chr17:87308759-87327182 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024487
 protein coding gene Chr17:90977001-90997723 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021926
 protein coding gene Chr17:80276624-80293837 (+)
CAST/EiJ MGP_CASTEiJ_G0023286
 protein coding gene Chr17:88105011-88127092 (+)
CBA/J MGP_CBAJ_G0023781
 protein coding gene Chr17:94733435-94761696 (+)
DBA/2J MGP_DBA2J_G0023909
 protein coding gene Chr17:83552549-83570469 (+)
FVB/NJ MGP_FVBNJ_G0023875
 protein coding gene Chr17:83036939-83055472 (+)
LP/J MGP_LPJ_G0023993
 protein coding gene Chr17:88626445-88648329 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023903
 protein coding gene Chr17:94809395-94829565 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024532
 protein coding gene Chr17:86953841-86971746 (+)
PWK/PhJ MGP_PWKPhJ_G0023031
 protein coding gene Chr17:83127693-83145620 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022842
 protein coding gene Chr17:83751987-83783229 (+)
WSB/EiJ MGP_WSBEiJ_G0023352
 protein coding gene Chr17:87819451-87838606 (+)



Homology
more
  • Human Ortholog
    ABCG8, ATP binding cassette subfamily G member 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCG8, ATP binding cassette subfamily G member 8
  • Synonyms
    GBD4, STSL, STSL1
  • Links
    NCBI Gene ID: 64241
    neXtProt AC: NX_Q9H221
    UniProt: Q9H221

  • Chr Location
    2p21; chr2:43831942-43882988 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abcg8 mouse models; 4 with human ABCG8 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotypes from multigenic genotypes
    42 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.
Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    46
  • GO References
    11
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
    934
  • Tissues
    158
  • cDNA Data
    13
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67470 NCBI Gene Model | MGI Sequence Detail 24032 C57BL/6J ±  kb
    transcript NM_026180 RefSeq | MGI Sequence Detail 3684 ZRU/MplStud  
    polypeptide Q9DBM0 UniProt | EBI | MGI Sequence Detail 673 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 2
      cDNA 13
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146794
    References
    more
    • Summaries
      All 96
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 11
      Phenotypes 42
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:358603 Yamanashi Y, et al., Dietary phytosterols induce infertility in female mice via epigenomic modulations. Commun Biol. 2024 Nov 19;7(1):1535
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory