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Aliases for ABCG8 Gene

Aliases for ABCG8 Gene

  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 2 3
  • Sterolin 2 2 3
  • Sterolin-2 3 4
  • GBD4 3 6
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 (Sterolin 2) 2
  • ATP-Binding Cassette, Subfamily G, Member 8 3
  • ATP-Binding Cassette Sub-Family G Member 8 3
  • Gallbladder Disease 4 2
  • STSL 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, Sub-Family G (WHITE), Member 8) is a Protein Coding gene. Diseases associated with ABCG8 include gallbladder disease 4 and sitosterolemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein heterodimerization activity and cholesterol transporter activity. An important paralog of this gene is ABCG2.

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

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

Genomics for ABCG8 Gene

Regulatory Elements for ABCG8 Gene

Genomic Location for ABCG8 Gene

Start:
43,838,964 bp from pter
End:
43,878,808 bp from pter
Size:
39,845 bases
Orientation:
Plus strand

Genomic View for ABCG8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9H221-ABCG8_HUMAN
    Recommended name:
    ATP-binding cassette sub-family G member 8
    Protein Accession:
    Q9H221
    Secondary Accessions:
    • Q53QN8

    Protein attributes for ABCG8 Gene

    Size:
    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

    Alternative splice isoforms for ABCG8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG8 Gene

Proteomics data for ABCG8 Gene at MOPED

Post-translational modifications for ABCG8 Gene

  • Glycosylation at Asn619
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCG8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCG8 Gene

Domains for ABCG8 Gene

Gene Families for ABCG8 Gene

HGNC:
  • ABCG :ATP binding cassette transporters / subfamily G
IUPHAR :

Protein Domains for ABCG8 Gene

Suggested Antigen Peptide Sequences for ABCG8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H221

UniProtKB/Swiss-Prot:

ABCG8_HUMAN :
  • Q9H221
Domain:
  • Contains 1 ABC transmembrane type-2 domain.
  • Contains 1 ABC transporter domain.
Family:
  • 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

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 --
GO:0016887 contributes_to ATPase activity IDA 16893193
GO:0017127 contributes_to cholesterol transporter activity IGI 14504269
genes like me logo Genes that share ontologies with ABCG8: view
genes like me logo Genes that share phenotypes with ABCG8: view

Animal Models for ABCG8 Gene

MGI Knock Outs for ABCG8:

Animal Model Products

CRISPR Products

miRNA for ABCG8 Gene

miRTarBase miRNAs that target ABCG8

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ABCG8 Gene COMPARTMENTS Subcellular localization image for ABCG8 gene
Compartment Confidence
plasma membrane 3
extracellular 2
peroxisome 2
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ABCG8 Gene

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

Pathways for ABCG8 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0007584 response to nutrient IEA --
GO:0007588 excretion 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

Compounds for ABCG8 Gene

(10) Novoseek inferred chemical compound relationships for ABCG8 Gene

Compound -log(P) Hits PubMed IDs
sterol 89.2 40
sitosterol 83.9 4
lathosterol 80.7 2
ezetimibe 78.7 2
cholesterol 74.7 65

(1) PharmGKB related drug/compound annotations for ABCG8 Gene

Drug/compound Annotation
atorvastatin CA
genes like me logo Genes that share compounds with ABCG8: view

Transcripts for ABCG8 Gene

mRNA/cDNA for ABCG8 Gene

Unigene Clusters for ABCG8 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCG8

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ABCG8

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ABCG8 Gene

GeneLoc Exon Structure for
ABCG8
ECgene alternative splicing isoforms for
ABCG8

Expression for ABCG8 Gene

mRNA expression in normal human tissues for ABCG8 Gene

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

This gene is overexpressed in Liver (46.0).

SOURCE GeneReport for Unigene cluster for ABCG8 Gene Hs.413931

mRNA Expression by UniProt/SwissProt for ABCG8 Gene

Q9H221-ABCG8_HUMAN
Tissue specificity: Strongly expressed in the liver, lower levels in the small intestine and colon. Detectable in a wide variety of human tissues
genes like me logo Genes that share expressions with ABCG8: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia ABCG8 35
  • 99.36 (n)
  • 99.11 (a)
ABCG8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCG8 35
  • 85 (n)
  • 82.21 (a)
ABCG8 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG8 35
  • 84.55 (n)
  • 82.81 (a)
ABCG8 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg8 35
  • 82.09 (n)
  • 81.85 (a)
Abcg8 16
Abcg8 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCG8 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG8 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg8 35
  • 81.99 (n)
  • 79.91 (a)
chicken
(Gallus gallus)
Aves ABCG8 35
  • 65.58 (n)
  • 66.72 (a)
ABCG8 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCG8 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg8 35
  • 64.14 (n)
  • 64.14 (a)
zebrafish
(Danio rerio)
Actinopterygii abcg8 35
  • 62.71 (n)
  • 62.25 (a)
abcg8 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11069 36
  • 24 (a)
ManyToMany
CG31121 36
  • 16 (a)
ManyToMany
CG11069 37
  • 37 (a)
E23 37
  • 38 (a)
st 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea abch-1 36
  • 19 (a)
ManyToMany
abcx-1 36
  • 16 (a)
ManyToMany
C10C6.5 37
  • 25 (a)
C16C10.12 37
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 36
  • 16 (a)
OneToMany
YOL075C 35
  • 42.24 (n)
  • 32.87 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04477g 35
  • 42.16 (n)
  • 33.07 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G01320 35
  • 42.66 (n)
  • 32.63 (a)
rice
(Oryza sativa)
Liliopsida Os01g0121700 35
  • 42.59 (n)
  • 33.27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
Species with no ortholog for ABCG8:
  • 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

ENSEMBL:
Gene Tree for ABCG8 (if available)
TreeFam:
Gene Tree for ABCG8 (if available)

Paralogs for ABCG8 Gene

Paralogs for ABCG8 Gene

Selected SIMAP similar genes for ABCG8 Gene using alignment to 4 proteins:

Pseudogenes.org 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 MAF
rs2954801 -- 43,878,918(+) TCCGA(C/T)GGTTT downstream-variant-500B
rs2955282 -- 43,872,725(+) aCAGC(A/C)TTGTT intron-variant
rs3795860 -- 43,871,716(-) GAAAG(A/G)GTAGA intron-variant
rs3820734 -- 43,871,655(-) CAGAG(C/T)AAGAG intron-variant
rs3841852 -- 43,874,510(-) GGGGG(-/AG/G/GG/GGG/GGGG)CACTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv59n68 CNV Gain 17160897
nsv457174 CNV Gain 19166990
nsv873981 CNV Loss 21882294
nsv519633 CNV Loss 19592680
dgv216n21 CNV Loss 19592680
esv267396 CNV Insertion 20981092
esv274645 CNV Insertion 20981092
esv27861 CNV Gain+Loss 19812545
nsv829108 CNV Gain 20364138
dgv695e199 CNV Deletion 23128226
esv2719996 CNV Deletion 23290073
nsv470457 CNV Gain 18288195
nsv516120 CNV Loss 19592680
esv2662610 CNV Deletion 23128226
esv2672341 CNV Deletion 23128226

Relevant External Links for ABCG8 Gene

HapMap Linkage Disequilibrium report
ABCG8
Human Gene Mutation Database (HGMD)
ABCG8

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

Disorders for ABCG8 Gene

(2) OMIM Diseases for ABCG8 Gene (605460)

UniProtKB/Swiss-Prot

ABCG8_HUMAN
  • 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. 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.

(2) University of Copenhagen DISEASES for ABCG8 Gene

(4) Novoseek inferred disease relationships for ABCG8 Gene

Disease -log(P) Hits PubMed IDs
sitosterolemia 97.6 31
hypercholesterolemia 61.3 6
atherosclerosis 41.6 6
cardiovascular diseases 11.2 1

Relevant External Links for ABCG8

Genetic Association Database (GAD)
ABCG8
Human Genome Epidemiology (HuGE) Navigator
ABCG8
genes like me logo Genes that share disorders with ABCG8: view

Publications for ABCG8 Gene

  1. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. (PMID: 17626266) GrA1nhage F. … Lammert F. (Hepatology 2007) 2 3 23 48
  2. Single nucleotide polymorphisms in ABCG5 and ABCG8 are associated with changes in cholesterol metabolism during weight loss. (PMID: 17827468) Santosa S. … Jones P.J. (J. Lipid Res. 2007) 3 23 48
  3. Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children. (PMID: 16980816) Viturro E. … Garces C. (Genet. Med. 2006) 3 23 48
  4. Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. (PMID: 17098593) Acalovschi M. … Lammert F. (Eur. J. Intern. Med. 2006) 3 23 48
  5. Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. (PMID: 15520451) Plat J. … Mensink R.P. (J. Lipid Res. 2005) 3 23 48

Products for ABCG8 Gene

Sources for ABCG8 Gene

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