Homo sapiens Gene: ABCG8
Summary
InnateDB Gene IDBG-49307.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCG8
Gene Name ATP-binding cassette, sub-family G (WHITE), member 8
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000143921
Encoded Proteins
ATP-binding cassette, sub-family G (WHITE), member 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:43838964-43878466
Strand Forward strand
Band p21
Transcripts
ENST00000272286 ENSP00000272286
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015248 sterol transporter activity
GO:0016887 ATPase activity
GO:0017127 cholesterol transporter activity
GO:0046982 protein heterodimerization activity
Biological Process
GO:0006200 ATP catabolic process
GO:0007584 response to nutrient
GO:0007588 excretion
GO:0010949 negative regulation of intestinal phytosterol absorption
GO:0015914 phospholipid transport
GO:0015918 sterol transport
GO:0030299 intestinal cholesterol absorption
GO:0033344 cholesterol efflux
GO:0042493 response to drug
GO:0042632 cholesterol homeostasis
GO:0044281 small molecule metabolic process
GO:0045796 negative regulation of intestinal cholesterol absorption
GO:0055085 transmembrane transport
GO:0055092 sterol homeostasis
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Metabolism of lipids and lipoproteins pathway
ABCA transporters in lipid homeostasis pathway
ABC-family proteins mediated transport pathway
Trafficking of dietary sterols pathway
Metabolism pathway
Lipid digestion, mobilization, and transport pathway
KEGG
ABC transporters pathway
Fat digestion and absorption pathway
Bile secretion pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.413931
RefSeq NM_022437 XM_005264483 XM_006712075
HUGO
OMIM
CCDS CCDS1815
HPRD 05679
IMGT
EMBL
GenPept
RNA Seq Atlas