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Aliases for ABCG8 Gene

Aliases for ABCG8 Gene

  • ATP Binding Cassette Subfamily G Member 8 2 3 5
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 2 3
  • Sterolin 2 2 3
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 (Sterolin 2) 2
  • ATP-Binding Cassette Sub-Family G Member 8 3
  • Gallbladder Disease 4 2
  • Sterolin-2 4
  • STSL 3
  • GBD4 3

External Ids for ABCG8 Gene

Previous GeneCards Identifiers for ABCG8 Gene

  • GC02P044065
  • GC02P044234
  • GC02P044040
  • GC02P043977
  • GC02P044066

Summaries for ABCG8 Gene

Entrez Gene Summary for ABCG8 Gene

  • 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]

GeneCards Summary for ABCG8 Gene

ABCG8 (ATP Binding Cassette Subfamily G Member 8) is a Protein Coding gene. Diseases associated with ABCG8 include Sitosterolemia and Gallbladder Disease 4. Among its related pathways are Fat digestion and absorption and Statin Pathway. GO annotations related to this gene include protein heterodimerization activity and cholesterol transporter activity. An important paralog of this gene is ABCG5.

UniProtKB/Swiss-Prot for ABCG8 Gene

  • Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.

Gene Wiki entry for ABCG8 Gene

Additional gene information for ABCG8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCG8 Gene

Genomics for ABCG8 Gene

Regulatory Elements for ABCG8 Gene

Enhancers for ABCG8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H043884 0.7 ENCODE 11.3 +55.9 55853 0.2 SOX13 GATAD2A FOXA2 TEAD1 FOXA3 HLF FOXA1 GATA3 JUND CEBPA ABCG5 ABCG8 PLEKHH2 LRPPRC GC02P043893 LOC102725159
GH02H043818 0.9 Ensembl ENCODE 0.4 -9.6 -9627 2.4 ATF1 L3MBTL2 JUN BHLHE40 MAX USF2 MNT REST FOSL1 ZNF589 DYNC2LI1 ABCG8 LOC105374571
GH02H043773 1.1 ENCODE 0.2 -54.7 -54681 1.7 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF207 ZNF143 DEK SP3 ZHX2 THADA DYNC2LI1 PLEKHH2 LOC105374571 ABCG8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCG8 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABCG8 Gene

Genomic Locations for ABCG8 Gene
51,236 bases
Plus strand

Genomic View for ABCG8 Gene

Genes around ABCG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCG8 Gene

Proteins for ABCG8 Gene

  • Protein details for ABCG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family G member 8
    Protein Accession:
    Secondary Accessions:
    • Q53QN8

    Protein attributes for ABCG8 Gene

    673 amino acids
    Molecular mass:
    75679 Da
    Quaternary structure:
    • May form heterodimers with ABCG5 or be tightly coupled to ABCG5 along a pathway regulating diatery-sterol absorption and excretion.

    Three dimensional structures from OCA and Proteopedia for ABCG8 Gene

    Alternative splice isoforms for ABCG8 Gene


neXtProt entry for ABCG8 Gene

Post-translational modifications for ABCG8 Gene

  • Glycosylation at posLast=619619
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCG8 Gene

No data available for DME Specific Peptides for ABCG8 Gene

Domains & Families for ABCG8 Gene

Gene Families for ABCG8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCG8 Gene

Suggested Antigen Peptide Sequences for ABCG8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
genes like me logo Genes that share domains with ABCG8: view

Function for ABCG8 Gene

Molecular function for ABCG8 Gene

UniProtKB/Swiss-Prot Function:
Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile.

Phenotypes From GWAS Catalog for ABCG8 Gene

Gene Ontology (GO) - Molecular Function for ABCG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16870176
GO:0005524 contributes_to ATP binding IDA 16893193
GO:0015248 sterol transporter activity IEA --
GO:0016887 contributes_to ATPase activity IDA 16893193
GO:0017127 contributes_to cholesterol transporter activity IGI,IEA 14504269
genes like me logo Genes that share ontologies with ABCG8: view
genes like me logo Genes that share phenotypes with ABCG8: view

Human Phenotype Ontology for ABCG8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCG8 Gene

MGI Knock Outs for ABCG8:

miRNA for ABCG8 Gene

miRTarBase miRNAs that target ABCG8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ABCG8 Gene

Localization for ABCG8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCG8 gene
Compartment Confidence
plasma membrane 5
peroxisome 3
extracellular 2
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA,IMP 14504269
GO:0043190 ATP-binding cassette (ABC) transporter complex IDA 16893193
genes like me logo Genes that share ontologies with ABCG8: view

Pathways & Interactions for ABCG8 Gene

genes like me logo Genes that share pathways with ABCG8: view

Gene Ontology (GO) - Biological Process for ABCG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007584 response to nutrient IEA --
GO:0007588 excretion IEA,IGI 14504269
GO:0010949 negative regulation of intestinal phytosterol absorption IMP 11099417
GO:0015914 phospholipid transport IEA --
genes like me logo Genes that share ontologies with ABCG8: view

No data available for SIGNOR curated interactions for ABCG8 Gene

Drugs & Compounds for ABCG8 Gene

(5) Drugs for ABCG8 Gene - From: DrugBank, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezetimibe Approved Pharma Transporter, substrate Cholesterol transport inhibitor 283
atorvastatin Approved Pharma Competitive, Inhibitor 0

(6) Additional Compounds for ABCG8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCG8: view

Transcripts for ABCG8 Gene

mRNA/cDNA for ABCG8 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABCG8 Gene

ATP-binding cassette, sub-family G (WHITE), member 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCG8 Gene

No ASD Table

Relevant External Links for ABCG8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCG8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCG8 Gene

mRNA differential expression in normal tissues according to GTEx for ABCG8 Gene

This gene is overexpressed in Liver (x46.0).

NURSA nuclear receptor signaling pathways regulating expression of ABCG8 Gene:


SOURCE GeneReport for Unigene cluster for ABCG8 Gene:


mRNA Expression by UniProt/SwissProt for ABCG8 Gene:

Tissue specificity: Strongly expressed in the liver, lower levels in the small intestine and colon. Detectable in a wide variety of human tissues.

Evidence on tissue expression from TISSUES for ABCG8 Gene

  • Liver(4.7)
  • Intestine(3.1)
  • Gall bladder(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCG8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • skeleton
Head and neck:
  • ear
  • heart
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ABCG8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ABCG8 Gene

Orthologs for ABCG8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCG8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCG8 33 34
  • 99.36 (n)
(Bos Taurus)
Mammalia ABCG8 33 34
  • 85 (n)
(Canis familiaris)
Mammalia ABCG8 33 34
  • 84.55 (n)
(Mus musculus)
Mammalia Abcg8 33 16 34
  • 82.09 (n)
(Rattus norvegicus)
Mammalia Abcg8 33
  • 81.99 (n)
(Monodelphis domestica)
Mammalia ABCG8 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia ABCG8 34
  • 63 (a)
(Gallus gallus)
Aves ABCG8 33 34
  • 65.58 (n)
(Anolis carolinensis)
Reptilia ABCG8 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg8 33
  • 64.14 (n)
(Danio rerio)
Actinopterygii abcg8 33 34
  • 62.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta E23 35
  • 38 (a)
CG11069 35 34
  • 37 (a)
st 35
  • 28 (a)
CG31121 34
  • 16 (a)
(Caenorhabditis elegans)
Secernentea C16C10.12 35
  • 26 (a)
C10C6.5 35
  • 25 (a)
abch-1 34
  • 19 (a)
abcx-1 34
  • 16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOL075C 33
  • 42.24 (n)
ADP1 34
  • 16 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04477g 33
  • 42.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G01320 33
  • 42.66 (n)
(Oryza sativa)
Liliopsida Os01g0121700 33
  • 42.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
Species where no ortholog for ABCG8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCG8 Gene

Gene Tree for ABCG8 (if available)
Gene Tree for ABCG8 (if available)

Paralogs for ABCG8 Gene

Paralogs for ABCG8 Gene

(2) SIMAP similar genes for ABCG8 Gene using alignment to 4 proteins: Pseudogenes for ABCG8 Gene

genes like me logo Genes that share paralogs with ABCG8: view

Variants for ABCG8 Gene

Sequence variations from dbSNP and Humsavar for ABCG8 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs137852988 other, Sitosterolemia (STSL) [MIM:210250] 43,875,377(+) TCGCC(A/G)GGGGC nc-transcript-variant, reference, missense
rs137852990 Pathogenic, Sitosterolemia (STSL) [MIM:210250] 43,852,692(+) CAACC(A/G)GCTGG nc-transcript-variant, reference, missense
rs137852992 Pathogenic, Sitosterolemia (STSL) [MIM:210250] 43,877,591(+) CTTCC(G/T)GCGGT nc-transcript-variant, reference, missense
rs137852993 Pathogenic, Sitosterolemia (STSL) [MIM:210250] 43,852,483(+) GGAAC(A/C)CAGGT nc-transcript-variant, reference, missense
rs201690654 Sitosterolemia (STSL) [MIM:210250] 43,875,286(+) TGCAG(G/T)ATTAT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ABCG8 Gene

Variant ID Type Subtype PubMed ID
nsv829108 CNV gain 20364138
nsv581668 CNV gain 21841781
nsv581667 CNV gain 21841781
nsv581665 CNV loss 21841781
nsv581661 CNV gain 21841781
nsv519633 CNV loss 19592680
nsv516120 CNV loss 19592680
nsv470457 CNV gain 18288195
nsv457174 CNV gain 19166990
nsv1150416 CNV duplication 26484159
nsv1142273 CNV tandem duplication 24896259
nsv1123323 CNV deletion 24896259
nsv1078453 CNV duplication 25765185
nsv1012126 CNV gain 25217958
nsv1008510 CNV gain 25217958
nsv1007740 CNV gain 25217958
esv3590539 CNV loss 21293372
esv3555833 CNV deletion 23714750
esv3555822 CNV deletion 23714750
esv27861 CNV gain+loss 19812545
esv2719996 CNV deletion 23290073
esv2672341 CNV deletion 23128226
esv2662610 CNV deletion 23128226
dgv695e199 CNV deletion 23128226
dgv6831n54 CNV gain 21841781
dgv59n68 CNV gain 17160897
dgv216n21 CNV loss 19592680
dgv1899n106 CNV deletion 24896259
dgv1898n106 CNV duplication 24896259

Variation tolerance for ABCG8 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.46; 98.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCG8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCG8 Gene

Disorders for ABCG8 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ABCG8 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • phytosterolemia
gallbladder disease 4
  • gbd4
gallbladder disease
  • gallbladder dysfunction
  • arteriosclerosis
- elite association - COSMIC cancer census association via MalaCards
Search ABCG8 in MalaCards View complete list of genes associated with diseases


  • Gallbladder disease 4 (GBD4) [MIM:611465]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO:0000269 PubMed:17632509}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Sitosterolemia (STSL) [MIM:210250]: Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia 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. {ECO:0000269 PubMed:11099417, ECO:0000269 PubMed:11452359}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCG8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ABCG8: view

No data available for Genatlas for ABCG8 Gene

Publications for ABCG8 Gene

  1. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. (PMID: 17626266) Grünhage F … Lammert F (Hepatology (Baltimore, Md.) 2007) 2 3 22 45 60
  2. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. (PMID: 20172523) Garcia-Rios A … Perez-Jimenez F (Atherosclerosis 2010) 3 22 45 60
  3. Common sequence variants in pharmacodynamic and pharmacokinetic pathway-related genes conferring LDL cholesterol response to statins. (PMID: 20235787) Chien KL … Chen WJ (Pharmacogenomics 2010) 3 22 45 60
  4. ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia. (PMID: 18977479) Koeijvoets KC … Plat J (Atherosclerosis 2009) 3 22 45 60
  5. Long-term consumption of plant stanol and sterol esters, vascular function and genetic regulation. (PMID: 19019257) Gylling H … Miettinen TA (The British journal of nutrition 2009) 3 22 45 60

Products for ABCG8 Gene

Sources for ABCG8 Gene

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