About   Help   FAQ
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(8)
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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ABCG5
Gene Tree: Abcg5

Human
homologs
ABCG5, ATP-binding cassette, sub-family G (WHITE), member 5
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 64240
neXtProt AC: NX_Q9H222

Human Synonyms: STSL

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

Disease Associations: (1) Diseases Associated with Human ABCG5

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Spontaneous(1) Targeted(5) Transgenic(1)
Genomic Mutations involving Abcg5 (1)
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 in Mice Using Abcg5 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Abcg5 interacts with 48 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process cholesterol efflux, cholesterol homeostasis, ...
Component apical part of cell, apical plasma membrane, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (127)    Tissues (97)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 127
cDNA source data(16)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase abcg5    NEW 
Molecular
reagents
All nucleic(16) cDNA(16)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000036704 (Evidence)
Ensembl Gene Model ENSMUSG00000040505 (Evidence)
Entrez Gene 27409 (Evidence)
UniGene 289590
DFCI TC1584447
DoTS DT.489458, DT.97333051
NIA Mouse Gene Index U038113
Consensus CDS Project CCDS29001.1
International Mouse Phenotyping Consortium Status Abcg5
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:215443 Wang J, et al., Relative Roles of ABCG5/ABCG8 in Liver and Intestine. J Lipid Res. 2014 Nov 6;
All references(58)
Disease annotation references (3)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory