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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 Aortic Atherosclerosis. Among its related pathways are Statin Pathway and Metabolism. 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

No data available for 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
GH02F043805 1 ENCODE 17.2 +31.1 31099 4.0 MLX ARID4B DMAP1 YY1 MXD4 PPARG KAT8 SREBF1 MIER3 ATF4 ABCG5 ABCG8 DYNC2LI1 RN7SKP66 PLEKHH2 LOC105374571
GH02F043884 0.7 ENCODE 11.3 -45.9 -45942 0.3 SOX13 GATAD2A TEAD1 HLF FOXA3 CEBPB JUND CEBPA BCL6 CUX1 ABCG5 ABCG8 PLEKHH2 LRPPRC GC02P043893 LOC102725159
GH02F043844 0.7 ENCODE 4.8 -5.8 -5832 1.4 JUNB ZMYM3 RAD21 NR2F2 YY1 ATF3 HNF4G ZBTB33 ETV6 CREM DYNC2LI1 RN7SKP66 ABCG5 LOC102725159 GC02P043893
GH02F043837 1.1 Ensembl ENCODE 0.8 +0.2 224 1.6 ELF3 TBP ATF1 ZFP64 ARID4B DMAP1 THRB ZNF48 ZBTB40 RAD21 LRPPRC ABCG5 ABCG8
GH02F043831 0.4 Ensembl 0.4 +6.8 6764 0.6 ATF3 RN7SKP66 DYNC2LI1 ABCG8 ABCG5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCG5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCG5 Gene

Chromosome:
2
Start:
43,806,155 bp from pter
End:
43,838,865 bp from pter
Size:
32,711 bases
Orientation:
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:
    Q9H222-ABCG5_HUMAN
    Recommended name:
    ATP-binding cassette sub-family G member 5
    Protein Accession:
    Q9H222
    Secondary Accessions:
    • Q2T9G2
    • Q96QZ2
    • Q96QZ3

    Protein attributes for ABCG5 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG5 Gene

Post-translational modifications for ABCG5 Gene

  • Glycosylation at Asn 584 and Asn 591
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ABCG5

No data available for DME Specific Peptides for ABCG5 Gene

Domains & Families for ABCG5 Gene

Gene Families for ABCG5 Gene

Protein Domains for ABCG5 Gene

Suggested Antigen Peptide Sequences for ABCG5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H222

UniProtKB/Swiss-Prot:

ABCG5_HUMAN :
  • Contains 1 ABC transmembrane type-2 domain.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
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 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.

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 IEA,IDA 16893193
GO:0016887 contributes_to ATPase activity IEA,IDA 16893193
GO:0017127 contributes_to cholesterol transporter activity IEA,IGI 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

Inhibitory RNA Products

Flow Cytometry 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

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 ABCG5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 2
nucleus 1
endoplasmic reticulum 1
cytosol 1

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 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:0007584 response to nutrient IEA --
GO:0007588 excretion IGI 14504269
GO:0010212 response to ionizing radiation IEA --
GO:0010949 negative regulation of intestinal phytosterol absorption IMP 11099417
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 272

(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:

Inhibitory RNA Products

Flow Cytometry 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
SP1:
SP2: - - -

Relevant External Links for ABCG5 Gene

GeneLoc Exon Structure for
ABCG5
ECgene alternative splicing isoforms for
ABCG5

Expression for ABCG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

ABCG5

SOURCE GeneReport for Unigene cluster for ABCG5 Gene:

Hs.132992

mRNA Expression by UniProt/SwissProt for ABCG5 Gene:

Q9H222-ABCG5_HUMAN
Tissue specificity: Strongly expressed in the liver, lower levels in the small intestine and colon.
genes like me logo Genes that share expression patterns with ABCG5: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ABCG5 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia ABCG5 34 35
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia ABCG5 34 35
  • 86.03 (n)
mouse
(Mus musculus)
Mammalia Abcg5 34 16 35
  • 81.36 (n)
rat
(Rattus norvegicus)
Mammalia Abcg5 34
  • 81.16 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCG5 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG5 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCG5 34 35
  • 66.3 (n)
lizard
(Anolis carolinensis)
Reptilia ABCG5 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg5 34
  • 63.04 (n)
zebrafish
(Danio rerio)
Actinopterygii abcg5 34 35
  • 62.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002051 34
  • 44.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11069 36 34 35
  • 44.27 (n)
E23 36
  • 36 (a)
st 36
  • 28 (a)
CG31121 35
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C10C6.5 36
  • 29 (a)
C16C10.12 36
  • 28 (a)
F02E11.1 36
  • 26 (a)
abch-1 35
  • 21 (a)
ManyToMany
abcx-1 35
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ABCG5 (if available)
TreeFam:
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 Sitosterolemia (STSL) [MIM:210250], Sitosterolemia (STSL) [MIM:210250], Pathogenic 43,823,981(-) GGACC(A/C/G)CGTAG intron-variant, downstream-variant-500B, reference, missense
rs119480069 Sitosterolemia (STSL) [MIM:210250], Pathogenic 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)
ABCG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCG5 Gene

Disorders for ABCG5 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

ABCG5_HUMAN
  • 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)
ABCG5
Human Genome Epidemiology (HuGE) Navigator
ABCG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCG5
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 S.B. (Am. J. Hum. Genet. 2001) 2 3 4 22 64
  2. Long-term consumption of plant stanol and sterol esters, vascular function and genetic regulation. (PMID: 19019257) Gylling H. … Miettinen T.A. (Br. J. Nutr. 2009) 3 22 46 64
  3. The metabolism of plant sterols is disturbed in postmenopausal women with coronary artery disease. (PMID: 19217458) Gylling H. … Miettinen T.A. (Metab. Clin. Exp. 2009) 3 22 46 64
  4. Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. (PMID: 18457353) Kuo K.K. … Hsiao P.J. (Br J Surg 2008) 3 22 46 64
  5. Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls. (PMID: 19012522) CaamaA+o J.M. … Salazar L.A. (Clin. Chem. Lab. Med. 2008) 3 22 46 64

Products for ABCG5 Gene

Sources for ABCG5 Gene

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