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

    Gene ID: 64241, updated on 8-Jul-2021

    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
    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; STSL1
    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
    NEW
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    Genomic context

    See ABCG8 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (43831942..43882988)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44066110..44110127)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374571 Neighboring gene RN7SK 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
    GeneReviews: Not available
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    GeneReviews: Not available
    Gallbladder disease 4
    MedGen: C1969115 OMIM: 611465 GeneReviews: Not available
    Compare labs
    Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    GeneReviews: Not available
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    GeneReviews: Not available
    Sitosterolemia 1
    MedGen: C5231390 OMIM: 210250 GeneReviews: Sitosterolemia
    Compare labs

    Pathways from PubChem

    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
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase-coupled transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to cholesterol transfer activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bile acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol efflux IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in excretion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intestinal cholesterol absorption IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of intestinal cholesterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of intestinal phytosterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of ATP-binding cassette (ABC) transporter complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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_008884.2 RefSeqGene

      Range
      12030..56047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1182

    mRNA and Protein(s)

    1. NM_001357321.2NP_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_022437.3NP_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)
      AC108476
      Consensus CDS
      CCDS1815.1
      UniProtKB/Swiss-Prot
      Q9H221
      Related
      ENSP00000272286.2, ENST00000272286.4
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      43831942..43882988
      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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