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Aliases for ABCG5 Gene

Aliases for ABCG5 Gene

  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 5 2 3
  • Sterolin 1 2 3
  • Sterolin-1 3 4
  • ATP-Binding Cassette, Subfamily G, Member 5 3
  • ATP-Binding Cassette Sub-Family G Member 5 3
  • 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, Sub-Family G (WHITE), Member 5) is a Protein Coding gene. Diseases associated with ABCG5 include sitosterolemia and aortic atherosclerosis. 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 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

Genomic Location for ABCG5 Gene

Start:
43,806,130 bp from pter
End:
43,838,900 bp from pter
Size:
32,771 bases
Orientation:
Minus strand

Genomic View for ABCG5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

    Alternative splice isoforms for ABCG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG5 Gene

Proteomics data for ABCG5 Gene at MOPED

Post-translational modifications for ABCG5 Gene

  • Glycosylation at Asn584 and Asn591
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCG5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCG5 Gene

Domains for ABCG5 Gene

Gene Families for ABCG5 Gene

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

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 :
  • Q9H222
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 IDA 16893193
GO:0016887 contributes_to ATPase activity IDA 16893193
GO:0017127 contributes_to cholesterol transporter activity IGI 14504269
GO:0046982 protein heterodimerization activity IPI 16870176
genes like me logo Genes that share ontologies with ABCG5: view
genes like me logo Genes that share phenotypes with ABCG5: view

Animal Models for ABCG5 Gene

MGI Knock Outs for ABCG5:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for ABCG5 Gene COMPARTMENTS Subcellular localization image for ABCG5 gene
Compartment Confidence
plasma membrane 3
extracellular 2
nucleus 2
endoplasmic reticulum 1
peroxisome 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 --
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 ABCG5: view

Pathways 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:0006200 obsolete ATP catabolic process --
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

Compounds for ABCG5 Gene

(8) Novoseek inferred chemical compound relationships for ABCG5 Gene

Compound -log(P) Hits PubMed IDs
sterol 88.8 28
sitosterol 84.3 2
ezetimibe 75.4 1
cholesterol 74.8 54
atp 43.9 11
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCG5

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ABCG5

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 for ABCG5 Gene

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

This gene is overexpressed in Liver (48.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCG5 Gene

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 expressions with ABCG5: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ABCG5 Gene

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 35
  • 99.01 (n)
  • 98.7 (a)
ABCG5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABCG5 35
  • 86.03 (n)
  • 82.9 (a)
ABCG5 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG5 35
  • 87.66 (n)
  • 84.49 (a)
ABCG5 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg5 35
  • 81.36 (n)
  • 80.18 (a)
Abcg5 16
Abcg5 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCG5 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG5 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcg5 35
  • 81.16 (n)
  • 79.42 (a)
chicken
(Gallus gallus)
Aves ABCG5 35
  • 66.3 (n)
  • 64.56 (a)
ABCG5 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCG5 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg5 35
  • 63.04 (n)
  • 62.4 (a)
zebrafish
(Danio rerio)
Actinopterygii abcg5 35
  • 62.7 (n)
  • 62.87 (a)
abcg5 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002051 35
  • 44.84 (n)
  • 31.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11069 35
  • 44.27 (n)
  • 32.22 (a)
CG11069 36
  • 25 (a)
ManyToMany
CG31121 36
  • 14 (a)
ManyToMany
CG11069 37
  • 30 (a)
E23 37
  • 36 (a)
st 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea abch-1 36
  • 21 (a)
ManyToMany
abcx-1 36
  • 17 (a)
ManyToMany
F02E11.1 37
  • 26 (a)
C10C6.5 37
  • 29 (a)
C16C10.12 37
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
ManyToMany
Species with no ortholog for ABCG5:
  • 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 MAF
rs3923911 -- 43,830,079(+) TTCCC(A/G)AGCCT intron-variant
rs3923912 -- 43,830,431(+) gattG(A/C)GAGGA intron-variant
rs4131228 -- 43,830,980(-) AGACA(C/T)AGTTA intron-variant
rs4131229 -- 43,830,928(-) GAATG(C/T)GCCTC intron-variant
rs4148174 -- 43,831,907(-) CCGCC(A/C)CGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv59n68 CNV Gain 17160897
nsv873979 CNV Loss 21882294
nsv457174 CNV Gain 19166990
nsv873980 CNV Loss 21882294
esv271843 CNV Insertion 20981092
nsv873981 CNV Loss 21882294

Relevant External Links for ABCG5 Gene

HapMap Linkage Disequilibrium report
ABCG5
Human Gene Mutation Database (HGMD)
ABCG5

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

Disorders for ABCG5 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ABCG5 Gene including...

Search for ABCG5 Gene in MalaCards »

(1) OMIM Diseases for ABCG5 Gene (605459)

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.

(2) University of Copenhagen DISEASES for ABCG5 Gene

(4) Novoseek inferred disease relationships for ABCG5 Gene

Disease -log(P) Hits PubMed IDs
sitosterolemia 97.9 38
hypercholesterolemia 57.1 5
atherosclerosis 47.8 4
rare disease 12.8 1

Relevant External Links for ABCG5

Genetic Association Database (GAD)
ABCG5
Human Genome Epidemiology (HuGE) Navigator
ABCG5
genes like me logo Genes that share disorders with ABCG5: view

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 23
  2. Role of ABCG1 and other ABCG family members in lipid metabolism. (PMID: 11590207) Schmitz G. … Heimerl S. (J. Lipid Res. 2001) 3 4 23
  3. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. (PMID: 11668628) Hubacek J.A. … Hobbs H.H. (Hum. Mutat. 2001) 3 4 23
  4. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. (PMID: 11138003) Lee M.-H. … Patel S.B. (Nat. Genet. 2001) 3 4 23
  5. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. (PMID: 15311998) HubA!cek J.A. … Poledne R. (Physiol Res 2004) 3 23 48

Products for ABCG5 Gene

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