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Abcg5
Gene Detail
 Symbol
Name
ID
Abcg5
ATP-binding cassette, sub-family G (WHITE), member 5
MGI:1351659
Synonyms cmp, Sterolin-1, tac, trac
Feature Type protein coding gene
Genetic Map
Chromosome 17
55.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr17:84658234-84683011 bp, - strand
From VEGA annotation of GRCm38

  24778 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:31909  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Abcg5

Human
homologs
Human Homolog ABCG5, ATP-binding cassette, sub-family G (WHITE), member 5
NCBI Gene ID 64240
neXtProt AC  NX_Q9H222
Human Synonyms  STSL
Human Chr (Location)  2p21; chr2:43806130-43838900 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ABCG5
Alleles
and
phenotypes
All alleles(5) : Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Abcg5 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process ATP catabolic process, cholesterol efflux, ...
Component apical part of cell, apical plasma membrane, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (127)    Tissues (97)    Images (20)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 127
cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(16) cDNA(16)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000036704 (Evidence)
Ensembl Gene ModelENSMUSG00000040505 (Evidence)
Entrez Gene27409 (Evidence)
UniGene289590
DFCITC1584447
DoTSDT.489458, DT.97333051
NIA Mouse Gene IndexU038113
Consensus CDS ProjectCCDS29001.1
International Mouse Knockout Project StatusAbcg5
Sequences
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 sequences
All sequences(33) RefSeq(2) UniProt(4)
Polymorphisms SNPs within 2kb(303 from dbSNP Build 137)    SNPs within 2kb including multiple locations(305)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
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:000003572 ATP-binding cassette sub-family G member 5
References (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: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(69)
Other
accession IDs
MGI:2147047, MGI:2156894

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
07/15/2014
MGI 5.18
The Jackson Laboratory