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; chr2:44039611-44065958 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ABCG5

Alleles and phenotypes

All alleles(3) : Targeted(2) Spontaneous(1)
 

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: (23 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 Type	Results
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 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 Knockout Project Status	Abcg5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036704	VEGA Gene Model | MGI Sequence Detail	24778	C57BL/6J
transcript	OTTMUST00000094038	VEGA | MGI Sequence Detail	2351	Not Applicable
polypeptide	OTTMUSP00000052239	VEGA | MGI Sequence Detail	652	Not Applicable

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

Resource	ID	Description
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:194476 McDaniel AL, et al., Phytosterol Feeding Causes Toxicity in ABCG5/G8 Knockout Mice. Am J Pathol. 2013 Apr;182(4):1131-8
All references(68)

Other accession IDs

MGI:2147047, MGI:2156894