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    ABCG8 ATP binding cassette subfamily G member 8 [ Homo sapiens (human) ]

    Gene ID: 64241, updated on 9-Sep-2018

    Summary

    Official Symbol
    ABCG8provided by HGNC
    Official Full Name
    ATP binding cassette subfamily G member 8provided by HGNC
    Primary source
    HGNC:HGNC:13887
    See related
    Ensembl:ENSG00000143921 MIM:605460; Vega:OTTHUMG00000128756
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GBD4; STSL
    Summary
    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]
    Expression
    Biased expression in small intestine (RPKM 17.4), duodenum (RPKM 17.0) and 1 other tissue See more
    Orthologs

    Genomic context

    See ABCG8 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (43831942..43880051)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44066103..44105947)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374571 Neighboring gene RNA, 7SK small nuclear pseudogene 66 Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene uncharacterized LOC102725159 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene leucine rich pentatricopeptide repeat containing Neighboring gene RNA, 7SL, cytoplasmic 455, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Gallbladder disease 4
    MedGen: C1969115 OMIM: 611465 GeneReviews: Not available
    Compare labs
    Sitosterolemia
    MedGen: C0342907 OMIM: 210250 GeneReviews: Sitosterolemia
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    NHGRI GWA Catalog
    Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
      Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Fat digestion and absorption, organism-specific biosystem (from KEGG)
      Fat digestion and absorption, organism-specific biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Fat digestion and absorption, conserved biosystem (from KEGG)
      Fat digestion and absorption, conserved biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Liver X Receptor Pathway, organism-specific biosystem (from WikiPathways)
      Liver X Receptor Pathway, organism-specific biosystemThe liver X receptor (LXR) is a nuclear receptor involved in the regulation of liver-specific processes, such as cholesterol, fatty acid and glucose homeostasis.
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    • Trafficking of dietary sterols, organism-specific biosystem (from REACTOME)
      Trafficking of dietary sterols, organism-specific biosystemNPC1L1 protein mediates the uptake of dietary sterols from the gut lumen. These include cholesterol and plant sterols (phytosterols). Half to two-thirds of the 250-500 milligrams of cholesterol consu...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Vitamin A and Carotenoid Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin A and Carotenoid Metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC142217

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to cholesterol transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to cholesterol transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    drug transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cholesterol efflux IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    excretion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    intestinal cholesterol absorption IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of intestinal cholesterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of intestinal phytosterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ATP-binding cassette (ABC) transporter complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family G member 8
    Names
    ATP-binding cassette, sub-family G (WHITE), member 8
    sterolin 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008884.1 RefSeqGene

      Range
      5001..44503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001357321.1NP_001344250.1  ATP-binding cassette sub-family G member 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1
      Source sequence(s)
      AC108476, AF324494, BC143564
      Conserved Domains (2) summary
      cd03234
      Location:60295
      ABCG_White; White pigment protein homolog of ABCG transporter subfamily
      cl28180
      Location:88662
      PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
    2. NM_022437.2NP_071882.1  ATP-binding cassette sub-family G member 8 isoform 1

      See identical proteins and their annotated locations for NP_071882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF320294, AF324494
      Consensus CDS
      CCDS1815.1
      UniProtKB/Swiss-Prot
      Q9H221
      Related
      ENSP00000272286.2, OTTHUMP00000158952, ENST00000272286.3, OTTHUMT00000250671
      Conserved Domains (3) summary
      cd03234
      Location:60295
      ABCG_White; White pigment protein homolog of ABCG transporter subfamily
      TIGR00955
      Location:88663
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:402606
      ABC2_membrane; ABC-2 type transporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      43831942..43880051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533029.2XP_011531331.1  ATP-binding cassette sub-family G member 8 isoform X1

      Conserved Domains (3) summary
      cd03234
      Location:64299
      ABCG_White; White pigment protein homolog of ABCG transporter subfamily
      TIGR00955
      Location:92667
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:406610
      ABC2_membrane; ABC-2 type transporter
    2. XM_011533030.2XP_011531332.1  ATP-binding cassette sub-family G member 8 isoform X2

      Conserved Domains (3) summary
      cd03234
      Location:64299
      ABCG_White; White pigment protein homolog of ABCG transporter subfamily
      TIGR00955
      Location:92666
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:405609
      ABC2_membrane; ABC-2 type transporter

    RNA

    1. XR_939707.2 RNA Sequence

    2. XR_001738891.1 RNA Sequence

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