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 func... See more...

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
  • ATP-Binding Cassette Sub-Family G Member 8 3 4
  • Sterolin 2 2 3
  • GBD4 2 3
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 (Sterolin 2) 2
  • Gallbladder Disease 4 2
  • Sterolin-2 4
  • EC 7.6.2.- 4
  • STSL1 3
  • ABCG8 5
  • STSL 3

External Ids for ABCG8 Gene

Previous GeneCards Identifiers for ABCG8 Gene

  • GC02P044065
  • GC02P044234
  • GC02P044040
  • GC02P043977
  • GC02P043802
  • 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 1 and Gallbladder Disease 4. Among its related pathways are Statin Pathway and Metabolism. Gene Ontology (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 Summary for ABCG8 Gene

  • ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential 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 (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).

Gene Wiki entry for ABCG8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCG8 Gene

Genomics for ABCG8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCG8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J043837 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 250.4 +6.7 6670 1.6 KLF9 YY1 KLF11 CHD2 THAP11 RXRA SAP130 ETV4 DMAP1 GABPB1 ABCG5 RF00017-2871 ABCG8 LRPPRC
GH02J043831 Promoter 0.4 Ensembl 250.7 0.0 -41 1 RBFOX2 ABCG8 RN7SKP66 DYNC2LI1 ABCG5 HSALNG0014561
GH02J043805 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 -24.2 -24176 4 ZMYM3 CEBPA ATF3 YY1 MXD4 HOMEZ KMT2B THAP11 FOXA2 KDM6A HSALNG0014558 ABCG5 ABCG8 DYNC2LI1 RN7SKP66 PLEKHH2 NONHSAG027615.2
GH02J043884 Enhancer 0.6 ENCODE 11.3 +52.9 52865 0.2 CEBPA JUND FOXA2 CUX1 BCL6 FOXA1 ARID3A HLF GATAD2A EP300 HSALNG0014565 piR-59425-020 ABCG5 ABCG8 PLEKHH2 LRPPRC
GH02J043773 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -57.5 -57521 2 ZNF207 IKZF1 SIX5 ZNF592 POLR2A ZIC2 MXD4 CEBPB KLF11 SMAD5 DYNC2LI1 HSALNG0014550 LOC105374571 RNU6-1048P THADA PLEKHH2 HSALNG0014551 ABCG8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCG8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCG8

Top Transcription factor binding sites by QIAGEN in the ABCG8 gene promoter:
  • AML1a
  • ATF6
  • c-Myb
  • Evi-1
  • HOXA3
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for ABCG8 Gene

Latest Assembly
chr2:43,831,942-43,882,988
(GRCh38/hg38)
Size:
51,047 bases
Orientation:
Plus strand

Previous Assembly
chr2:44,066,110-44,110,127
(GRCh37/hg19 by Entrez Gene)
Size:
44,018 bases
Orientation:
Plus strand

chr2:44,066,103-44,105,605
(GRCh37/hg19 by Ensembl)
Size:
39,503 bases
Orientation:
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:
    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
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimer with ABCG8.
    Miscellaneous:
    • [Isoform 2]: Minor form detected in approximately 10% of the cDNA clones.

    Three dimensional structures from OCA and Proteopedia for ABCG8 Gene

    Alternative splice isoforms for ABCG8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG8 Gene

Post-translational modifications for ABCG8 Gene

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

HGNC:
IUPHAR :
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

GenScript: Design optimal peptide antigens:
  • Sterolin-2 (ABCG8_HUMAN)
  • ABCG8 protein (B7ZL41_HUMAN)
  • ATP-binding cassette, sub-family G (WHITE), member 8 (Q14CR0_HUMAN)
  • Sterolin 2 (Q96A01_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H221

UniProtKB/Swiss-Prot:

ABCG8_HUMAN :
  • A functional Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. The essential Lys in this region is not conserved in ABCG8 (G-S-S-G-C-R-A-S) and is not required for transport activity mediated by the heterodimer with ABCG5.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
Domain:
  • A functional Walker motif (consensus sequence G-X-X-G-X-G-K-[ST]-T) is expected to bind ATP. The essential Lys in this region is not conserved in ABCG8 (G-S-S-G-C-R-A-S) and is not required for transport activity mediated by the heterodimer with ABCG5.
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:
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential 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 (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H(+) + phosphate; Xref=Rhea:RHEA:39051, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:Q9DBM0};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(24R)-ethylcholest-5-en-3beta-ol(in) + ATP + H2O = (24R)-ethylcholest-5-en-3beta-ol(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:39103, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27693, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:Q9DBM0};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The ATPase activity of the heterodimer is stimulated by cholate. Taurocholate, glycocholate, taurochenodeoxycholate, glycochenodeoxycholate and taurodeoxycholate also stimulate ATPase activity, but to a lower degree. Glycodeoxycholate has no significant effect on ATPase activity. ATPase activity is inhibited by vanadate and by berillium fluoride.

Enzyme Numbers (IUBMB) for ABCG8 Gene

Phenotypes From GWAS Catalog for ABCG8 Gene

Gene Ontology (GO) - Molecular Function for ABCG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 16870176
GO:0005524 contributes_to ATP binding IDA 16893193
GO:0016887 contributes_to ATPase activity IDA 16893193
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IDA 27144356
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCG8

No data available for Transcription Factor Targets and HOMER Transcription for ABCG8 Gene

Localization for ABCG8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG8 Gene

Cell membrane. Multi-pass membrane protein. Apical cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 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:0005887 integral component of plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IMP,ISS --
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

SIGNOR curated interactions for ABCG8 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ABCG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid 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:0014850 response to muscle activity IEA --
genes like me logo Genes that share ontologies with ABCG8: view

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
Tocofersolan Approved Pharma Transporter, substrate 0
Atorvastatin Approved Pharma 928

(7) 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

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCG8

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

No ASD Table

Relevant External Links for ABCG8 Gene

GeneLoc Exon Structure for
ABCG8

Expression for ABCG8 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)
  • Liver (Hepatobiliary System)

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCG8

SOURCE GeneReport for Unigene cluster for ABCG8 Gene:

Hs.413931

mRNA Expression by UniProt/SwissProt for ABCG8 Gene:

Q9H221-ABCG8_HUMAN
Tissue specificity: Predominantly expressed in the liver (PubMed:11099417, PubMed:11452359). Low expression levels in the small intestine and colon (PubMed:11099417). Very low levels in other tissues, including brain, heart and spleen (PubMed:11452359).

Evidence on tissue expression from TISSUES for ABCG8 Gene

  • Liver(4.7)
  • Intestine(3.1)
  • Gall bladder(2.9)
  • Blood(2.2)
  • Nervous system(2.2)
  • Thyroid gland(2.1)
  • Adrenal gland(2.1)

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

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

Primer products for research

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia ABCG8 29 30
  • 99.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCG8 29 30
  • 85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCG8 29 30
  • 84.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abcg8 29 16 30
  • 82.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abcg8 29
  • 81.99 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABCG8 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCG8 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABCG8 29 30
  • 65.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABCG8 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abcg8 29
  • 64.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii abcg8 29 30
  • 62.71 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta E23 31
  • 38 (a)
st 31
  • 28 (a)
CG11069 30 31
  • 24 (a)
ManyToMany
CG31121 30
  • 16 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C16C10.12 31
  • 26 (a)
C10C6.5 31
  • 25 (a)
abch-1 30
  • 19 (a)
ManyToMany
abcx-1 30
  • 16 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOL075C 29
  • 42.24 (n)
ADP1 30
  • 16 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04477g 29
  • 42.16 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G01320 29
  • 42.66 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0121700 29
  • 42.59 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
ManyToMany
Species where no ortholog for ABCG8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCG8: view image
Alliance of Genome Resources:
Additional Orthologs for ABCG8

Paralogs for ABCG8 Gene

Paralogs for ABCG8 Gene

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

  • ABCG8_HUMAN
  • B7ZL41_HUMAN
  • Q14CR0_HUMAN
  • Q96A01_HUMAN

Pseudogenes.org Pseudogenes for ABCG8 Gene

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

Variants for ABCG8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCG8 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1010351 Uncertain Significance: Sitosterolemia 43,838,564(+) C/T
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp)
MISSENSE
1011797 Uncertain Significance: not provided 43,852,653(+) A/G
NM_022437.3(ABCG8):c.749A>G (p.Asn250Ser)
MISSENSE
1016519 Uncertain Significance: not provided 43,871,988(+) G/A
NM_022437.3(ABCG8):c.977G>A (p.Ser326Asn)
MISSENSE
1028260 Uncertain Significance: Sitosterolemia 1 43,832,056(+) GC/CA
NM_022436.3(ABCG5):c.292_293delinsTG (p.Ala98Cys)
MISSENSE
1042102 Uncertain Significance: Sitosterolemia 43,838,678(+) A/G
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr)
INITIATIOR_CODON_VARIANT,MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABCG8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for ABCG8 Gene

Human Gene Mutation Database (HGMD)
ABCG8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCG8
Leiden Open Variation Database (LOVD)
ABCG8

SNP Genotyping and Copy Number Assays for research

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

Disorders for ABCG8 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ABCG8 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
sitosterolemia 1
  • stsl1
gallbladder disease 4
  • gbd4
sitosterolemia
  • phytosterolemia
sitosterolemia 2
  • stsl2
gallbladder disease
  • gall bladder
- elite association - COSMIC cancer census association via MalaCards
Search ABCG8 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:17632509}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
  • Sitosterolemia 1 (STSL1) [MIM:210250]: 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. {ECO:0000269 PubMed:11099417, ECO:0000269 PubMed:11452359, ECO:0000269 PubMed:15054092}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ABCG8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ABCG8: view

No data available for Genatlas for ABCG8 Gene

Publications for ABCG8 Gene

  1. 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 40 72
  2. 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 40
  3. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. (PMID: 17632509) Buch S … Hampe J (Nature genetics 2007) 3 4 40 72
  4. 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. (PMID: 11452359) Lu K … Patel SB (American journal of human genetics 2001) 3 4 22 72
  5. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. (PMID: 11099417) Berge KE … Hobbs HH (Science (New York, N.Y.) 2000) 2 3 4 72

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