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Aliases for ABCG5 Gene

Aliases for ABCG5 Gene

  • ATP Binding Cassette Subfamily G Member 5 2 3 5
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 5 2 3
  • Sterolin 1 2 3
  • ATP-Binding Cassette Sub-Family G Member 5 3
  • Sterolin-1 4
  • STSL 3

External Ids for ABCG5 Gene

Previous GeneCards Identifiers for ABCG5 Gene

  • GC02M044038
  • GC02M044208
  • GC02M044014
  • GC02M043951
  • GC02M043893
  • GC02M044039

Summaries for ABCG5 Gene

Entrez Gene Summary for ABCG5 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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCG5 Gene

ABCG5 (ATP Binding Cassette Subfamily G Member 5) is a Protein Coding gene. Diseases associated with ABCG5 include Sitosterolemia and Homozygous Familial Hypercholesterolemia. Among its related pathways are Nuclear Receptors in Lipid Metabolism and Toxicity and Fat digestion and absorption. GO annotations related to this gene include protein heterodimerization activity and cholesterol transporter activity. An important paralog of this gene is ABCG8.

UniProtKB/Swiss-Prot for ABCG5 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 ABCG5 Gene

Additional gene information for ABCG5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCG5 Gene

Genomics for ABCG5 Gene

Regulatory Elements for ABCG5 Gene

Enhancers for ABCG5 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 -45.9 -45942 0.2 SOX13 GATAD2A FOXA2 TEAD1 FOXA3 HLF FOXA1 GATA3 JUND CEBPA ABCG5 ABCG8 PLEKHH2 LRPPRC GC02P043893 LOC102725159
GH02H043844 0.7 ENCODE 4.8 -5.8 -5832 1.4 TAF1 ZMYM3 MAX REST RAD21 NR2F2 YY1 JUND ATF3 HNF4G DYNC2LI1 RN7SKP66 ABCG5 LOC102725159 GC02P043893
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCG5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABCG5 Gene

Genomic Locations for ABCG5 Gene
32,711 bases
Minus strand

Genomic View for ABCG5 Gene

Genes around ABCG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCG5 Gene

Proteins for ABCG5 Gene

  • Protein details for ABCG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-binding cassette sub-family G member 5
    Protein Accession:
    Secondary Accessions:
    • Q2T9G2
    • Q96QZ2
    • Q96QZ3

    Protein attributes for ABCG5 Gene

    651 amino acids
    Molecular mass:
    72504 Da
    Quaternary structure:
    • May form heterodimers with ABCG8 or be tightly coupled to ABCG8 along a pathway regulating diatery-sterol absorption and excretion.

    Three dimensional structures from OCA and Proteopedia for ABCG5 Gene

    Alternative splice isoforms for ABCG5 Gene


neXtProt entry for ABCG5 Gene

Post-translational modifications for ABCG5 Gene

  • Glycosylation at posLast=584584 and Asn591
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCG5 Gene

Domains & Families for ABCG5 Gene

Gene Families for ABCG5 Gene

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

Protein Domains for ABCG5 Gene

Suggested Antigen Peptide Sequences for ABCG5 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 ABCG5: view

Function for ABCG5 Gene

Molecular function for ABCG5 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 ABCG5 Gene

Gene Ontology (GO) - Molecular Function for ABCG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16870176
GO:0005524 contributes_to ATP binding IDA,IEA 16893193
GO:0016887 contributes_to ATPase activity IDA,IEA 16893193
GO:0017127 contributes_to cholesterol transporter activity IGI,IEA 14504269
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA --
genes like me logo Genes that share ontologies with ABCG5: view
genes like me logo Genes that share phenotypes with ABCG5: view

Human Phenotype Ontology for ABCG5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCG5 Gene

MGI Knock Outs for ABCG5:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ABCG5 Gene

Localization for ABCG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG5 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 ABCG5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 2
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCG5 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 ABCG5: view

Pathways & Interactions for ABCG5 Gene

genes like me logo Genes that share pathways with ABCG5: view

Gene Ontology (GO) - Biological Process for ABCG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006855 drug transmembrane transport IBA --
GO:0007584 response to nutrient IEA --
GO:0007588 excretion IGI,IEA 14504269
GO:0010212 response to ionizing radiation IEA --
genes like me logo Genes that share ontologies with ABCG5: view

No data available for SIGNOR curated interactions for ABCG5 Gene

Drugs & Compounds for ABCG5 Gene

(4) Drugs for ABCG5 Gene - From: DrugBank and Novoseek

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

(4) Additional Compounds for ABCG5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCG5: view

Transcripts for ABCG5 Gene

Unigene Clusters for ABCG5 Gene

ATP-binding cassette, sub-family G (WHITE), member 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCG5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP2: - - -

Relevant External Links for ABCG5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABCG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCG5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCG5 Gene

This gene is overexpressed in Liver (x48.3).

Protein differential expression in normal tissues from HIPED for ABCG5 Gene

This gene is overexpressed in Tlymphocyte (59.9) and CD4 Tcells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCG5 Gene

Protein tissue co-expression partners for ABCG5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCG5 Gene:


SOURCE GeneReport for Unigene cluster for ABCG5 Gene:


mRNA Expression by UniProt/SwissProt for ABCG5 Gene:

Tissue specificity: Strongly expressed in the liver, lower levels in the small intestine and colon.

Evidence on tissue expression from TISSUES for ABCG5 Gene

  • Liver(4.7)
  • Intestine(3.2)
  • Gall bladder(2.3)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCG5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • skeleton
Head and neck:
  • ear
  • heart
  • duodenum
  • intestine
  • liver
  • 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 ABCG5: view

Orthologs for ABCG5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCG5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABCG5 33 34
  • 99.01 (n)
(Canis familiaris)
Mammalia ABCG5 33 34
  • 87.66 (n)
(Bos Taurus)
Mammalia ABCG5 33 34
  • 86.03 (n)
(Mus musculus)
Mammalia Abcg5 33 16 34
  • 81.36 (n)
(Rattus norvegicus)
Mammalia Abcg5 33
  • 81.16 (n)
(Monodelphis domestica)
Mammalia ABCG5 34
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia ABCG5 34
  • 68 (a)
(Gallus gallus)
Aves ABCG5 33 34
  • 66.3 (n)
(Anolis carolinensis)
Reptilia ABCG5 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg5 33
  • 63.04 (n)
(Danio rerio)
Actinopterygii abcg5 33 34
  • 62.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002051 33
  • 44.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11069 35 33 34
  • 44.27 (n)
E23 35
  • 36 (a)
st 35
  • 28 (a)
CG31121 34
  • 14 (a)
(Caenorhabditis elegans)
Secernentea C10C6.5 35
  • 29 (a)
C16C10.12 35
  • 28 (a)
F02E11.1 35
  • 26 (a)
abch-1 34
  • 21 (a)
abcx-1 34
  • 17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
Species where no ortholog for ABCG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCG5 Gene

Gene Tree for ABCG5 (if available)
Gene Tree for ABCG5 (if available)

Paralogs for ABCG5 Gene

Paralogs for ABCG5 Gene

genes like me logo Genes that share paralogs with ABCG5: view

Variants for ABCG5 Gene

Sequence variations from dbSNP and Humsavar for ABCG5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs119479067 Pathogenic, Sitosterolemia (STSL) [MIM:210250], Sitosterolemia (STSL) [MIM:210250] 43,823,981(-) GGACC(A/C/G)CGTAG intron-variant, downstream-variant-500B, reference, missense
rs119480069 Pathogenic, Sitosterolemia (STSL) [MIM:210250] 43,824,071(-) TACGC(A/G)TCTCC intron-variant, downstream-variant-500B, reference, missense
rs575266356 Sitosterolemia (STSL) [MIM:210250] 43,823,926(+) ACAGC(A/C/G)TTCAG intron-variant, reference, synonymous-codon, missense
rs758551848 Sitosterolemia (STSL) [MIM:210250] 43,831,834(+) CGTCT(C/G)GCGCA intron-variant, upstream-variant-2KB, reference, missense
VAR_012248 Sitosterolemia (STSL) [MIM:210250]

Structural Variations from Database of Genomic Variants (DGV) for ABCG5 Gene

Variant ID Type Subtype PubMed ID
nsv998912 CNV gain 25217958
nsv581661 CNV gain 21841781
nsv457174 CNV gain 19166990
nsv1109245 CNV deletion 24896259
nsv1012126 CNV gain 25217958
nsv1007740 CNV gain 25217958
esv3891993 CNV gain 25118596
esv3364875 CNV insertion 20981092
esv3307569 CNV mobile element insertion 20981092
dgv59n68 CNV gain 17160897

Variation tolerance for ABCG5 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.13; 84.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCG5 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 ABCG5 Gene

Disorders for ABCG5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ABCG5 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • phytosterolemia
homozygous familial hypercholesterolemia
  • hofh
aortic atherosclerosis
  • atherosclerosis of aorta
artery disease
  • arteriopathic disease
- elite association - COSMIC cancer census association via MalaCards
Search ABCG5 in MalaCards View complete list of genes associated with diseases


  • 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:11138003, ECO:0000269 PubMed:11452359, ECO:0000269 PubMed:11668628}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCG5

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 ABCG5: view

No data available for Genatlas for ABCG5 Gene

Publications for ABCG5 Gene

  1. 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) 2 3 4 22 60
  2. 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
  3. The metabolism of plant sterols is disturbed in postmenopausal women with coronary artery disease. (PMID: 19217458) Gylling H … Miettinen TA (Metabolism: clinical and experimental 2009) 3 22 45 60
  4. Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. (PMID: 18457353) Kuo KK … Hsiao PJ (The British journal of surgery 2008) 3 22 45 60
  5. Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. (PMID: 18581044) Chen ZC … Hsiao PJ (Journal of human genetics 2008) 3 22 45 60

Products for ABCG5 Gene

Sources for ABCG5 Gene

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