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Abcg8
Gene Detail
Symbol

Name
ID
Abcg8
ATP-binding cassette, sub-family G (WHITE), member 8
MGI:1914720
Synonyms
1300003C16Rik, Sterolin-2
Feature Type
protein coding gene
Genetic Map
Chromosome 17
55.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr17:84676302-84700333 bp, + strand
From VEGA annotation of GRCm38

  24032 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23361  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Abcg8

Human
homologs
Human Homolog ABCG8, ATP-binding cassette, sub-family G (WHITE), member 8
NCBI Gene ID 64241
neXtProt AC  NX_Q9H221
Human Synonyms  GBD4, STSL
Human Chr (Location)  2p21; chr2:43838964-43878808 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human ABCG8
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Genomic Mutations involving Abcg8 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels.
 
Human Diseases Modeled Using Mouse Abcg8 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Abcg8 interacts with 184 markers (Mir17, Mir18, Mir18b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process ATP catabolic process, cholesterol efflux, ...
Component apical plasma membrane, integral component of membrane, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(13)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000036685 (Evidence)
Ensembl Gene ModelENSMUSG00000024254 (Evidence)
Entrez Gene67470 (Evidence)
UniGene26581
DFCITC1584934
DoTSDT.483817, DT.101714114
NIA Mouse Gene IndexU018289
Consensus CDS ProjectCCDS29002.1, CCDS70849.1
International Mouse Knockout Project StatusAbcg8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036685 VEGA Gene Model | MGI Sequence Detail 24032 C57BL/6J ±  kb
transcript OTTMUST00000093990 VEGA | MGI Sequence Detail 3667 Not Applicable 
polypeptide OTTMUSP00000052216 VEGA | MGI Sequence Detail 673 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(7) UniProt(9)
Polymorphisms
SNPs within 2kb(214 from dbSNP Build 137)    SNPs within 2kb including multiple locations(216)
Protein-related
information
ResourceIDDescription
InterPro IPR013525 ABC-2 type transporter
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003573 ATP-binding cassette sub-family G member 8
References
(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:203271 Kanaji T, et al., Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. Blood. 2013 Oct 10;122(15):2732-42
All references(75)
Disease annotation references (2)
Other
accession IDs
MGI:2146794

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory