Entity Details

Primary name ABCG5
Entity type gene
Source Source Link

Details

PrimaryID64240
RefseqGeneNG_008883
SymbolABCG5
NameATP binding cassette subfamily G member 5
Chromosome2
Location2p21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-12
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsABCG5_HUMAN

GO terms

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GOName
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006869 lipid transport
GO:0007584 response to nutrient
GO:0007588 excretion
GO:0010212 response to ionizing radiation
GO:0010949 negative regulation of intestinal phytosterol absorption
GO:0014850 response to muscle activity
GO:0015918 sterol transport
GO:0016324 apical plasma membrane
GO:0030299 intestinal cholesterol absorption
GO:0030522 intracellular receptor signaling pathway
GO:0033344 cholesterol efflux
GO:0038183 bile acid signaling pathway
GO:0042493 response to drug
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042632 cholesterol homeostasis
GO:0043190 ATP-binding cassette (ABC) transporter complex
GO:0043235 receptor complex
GO:0045796 negative regulation of intestinal cholesterol absorption
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0070328 triglyceride homeostasis
GO:0120020 cholesterol transfer activity

Diseases

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Disease IDSourceNameDescription
618666 OMIMSitosterolemia 2 (STSL2)A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ABCG5ABCG8BioGRID, DIP, HPRD, MINT12208867 16870176 27144356 details
ABCG5NCK1IntAct17474147 details
ABCG5PIK3R1IntAct17474147 details
ABCG5ABCG1MINT16870176 details